bluuebunny/crossref_metadata_2025 huggingface dataset:
DS26 Review of 2-week suspected skin cancer activity shows a large increase in number of patients with basal cell carcinoma: implications for designing services and workforce planning
Authors: Schofield Julia , Scharrer Krisztina , Millbank Kimberley
Published: June 2023

The 2-week wait (2WW) suspected skin cancer referral pathway is for people with high-risk skin cancers in particular squamous cell carcinoma (SCC) and malignant melanoma (MM) but not for most basal cell carcinomas (BCC). Conversion rates reflecting the number of SCC and MM diagnosed via a 2WW pathway are around 8–12%. Prior to the COVID-19, pandemic people with straightforward low-risk BCCs would be referred on a routine pathway with an expectation that their management would be completed within 18 weeks. The postpandemic pressure on routine waiting lists has meant that managing patients with BCC in a timely fashion is challenging, and the impression is that these patients are now being referred on the 2WW pathway to avoid delays in treatment. The aim of this study was to review the 2WW referral activity between 2019 and 2022, particularly in relation to the number of patients with BCC. Data were obtained from the cancer team (Table 1). There has been a 68% increase in 2WW referral activity. The proportion of people discharged at first attendance and the MM and SCC conversion rate has remained fairly stable. Looking specifically at BCCs, there was an increase from 13.7% to 16.2%. The total number of tumours managed increased overall by 85% over the study period (Table 1). For BCC, the activity has doubled from 552 to 1108 patients (to the end of November 2022). These data confirm the large increase in the number of patients referred on the 2WW suspected skin cancer pathway. Although there is little change in the proportion of patients with different types of skin cancer being seen and managed, the total numbers reported here demonstrate a significant knock-on impact of additional workload for specialist teams, including the need for more skin surgery activity, histopathology and specialist skin cancer nursing services. This needs to be considered when developing skin lesion diagnostic and management pathways and confirms the importance of developing locally agreed BCC pathways and defining workforce requirements.Table 1Two-week wait (2WW) referral activity between 2019 and 2022Number of tumours managed2019202020212022 (to the end of November 2022)2WW referrals (n)4038480260636837Discharged at first attendance (%)56505454Melanoma (%)2.32.221.8SCC (%)5.98.47.65.8Conversion rate (SCC and MM) (%)8.210.69.69.6BCC (%)13.713.816.516.2Number of tumoursSCC237403461395Melanoma93104121124BCC5526629981108Total882116915801627
DS28 In search of salivation? Management of parotid duct injury following Mohs micrographic surgery
Authors: Bajwa Dalvir , Hunt William , Habaluyas Katrina , Fenwick Sarah , Tabor Dominic , Verykiou Stamatina , Brass David , Oliphant Thomas
Published: June 2023

Parotid duct injury is a rare complication of cutaneous surgery usually occurring after excision of deep infiltrating tumours on the cheek. The existing literature is limited to case reports. We present our experience of two cases encountered in our unit over the last 15 years. Our first patient was an 87-year-old man referred for Mohs excision of a biopsy-confirmed morphoeic basal cell carcinoma (BCC) on his right cheek. During tumour extirpation, it was necessary to sacrifice a short section of the parotid duct. This was confirmed by direct visualization of the duct and a visible salivary leak. Immediate referral was made to the plastic surgery department, who also noted ipsilateral weakness in the distribution of the buccal branch of the facial nerve. The parotid duct was repaired over a lacrimal stent secured to his buccal mucosa. The wound was reconstructed with a large rhombic transposition flap and the parotid gland infiltrated with botulinum toxin. Four weeks later, the salivary stent had spontaneously fallen out and fresh-looking saliva was noted emerging from the parotid ampulla. Our second patient was a 65-year-old man referred for Mohs excision of a 3-cm nodular BCC on the left cheek. During tumour extirpation, a short section of the parotid duct was resected, which was clearly visible in the Mohs layer. On this occasion, the patient was referred to colleagues in the maxillofacial surgery department who attended the dermatology surgical unit. Under local anaesthesia, the parotid duct was cannulated using an epidural catheter secured both intraorally and to the residual duct using an absorbable monofilament suture (intraoperative pictures will demonstrate the technique). The Mohs defect was reconstructed with a bilobed transposition flap. Hyoscine patches were supplied to help reduce salivary flow. Marked swelling of the parotid gland developed postoperatively, which settled without further intervention. After 4 weeks, the epidural catheter was removed, and saliva was noted to be flowing from the parotid ampulla. Weakness of the lip elevators was noted in keeping with facial nerve injury. Despite the infrequency of parotid duct injury, it is important that cutaneous surgeons/Mohs surgeons are aware of how to proceed in these cases. In cases where assistance is not available from other specialties, the technique could be undertaken by an appropriately trained dermatological surgeon/Mohs surgeon using local anaesthesia.
DE01 Swabs: a practical way to teach medical students about cutaneous infections
Authors: Mughal Avad
Published: June 2023

It is well established that dermatology is poorly understood among medical students and doctors of all grades. The combination of time allocated to teaching of dermatology, as well as the high impact of the hidden curriculum reinforcing dermatology as difficult and mysterious, lends itself to perpetuation of the zeitgeist. Cutaneous infections have a particularly high cognitive load due to their relatively short presentation time and wide varieties of manifestations. Investigation of cutaneous infections is also problematic with incorrect sampling undertaken for different infections. Junior doctors frequently default to black charcoal swabs for all skin infections, often getting feedback as inappropriate investigation after the patient has been discharged or are being read by different doctors altogether due to shift working. For 8 years, we have been running a practical tutorial session on skin infections at Swansea University Medical School. Old venesection prosthetic arms are decorated with simulation bacterial, fungal and viral infections. The bacterial pus is cold custard (or ‘pustard’) on swollen reddened sections. Herpetic vesicles are simulated with bubble wrap injected with Hibiscrub®. Tinea is simulated by dry polyvinyl acetate glue surrounded by red marker. The students have access to black charcoal swabs, red viral swabs, scalpels and fungal scraping cards. They also have dry universal containers and investigation forms. The 10–12 year-2 students are tasked with diagnosing each infective presentation with a short history and medical photography to back up the prosthetic representation. They then have to select the most appropriate investigative method and information to give to the microbiology department. Some students only have access to black charcoal swabs and need to improvise working out how to use the universal containers for their investigations. The knowledge is then shared at the end of the 40-min tutorial. This is conducted a day before the skin infection lecture, to reduce the cognitive load of that lecture. There has been consistently good feedback for this session, which allows students to think in real time about common clinical scenarios, making best use of laboratory services and improvising investigative techniques, where appropriate resources may not be available. The prosthetics have worked well year on year. Many of our first students are now practising doctors locally, and their dermatology knowledge is manifest in referrals. By practising the techniques in simulation, they are comfortable doing so in working life.
DE02 Honing in on clinician needs: a grassroots development of an educational resource for dermatologists
Authors: Blyth Rachel , Jiyad Zainab , Ferguson Leila , Pinder Vanessa
Published: June 2023

Keeping up with the influx of scientific research papers can feel overwhelming, especially alongside busy clinical responsibilities. A PubMed search of the term ‘dermatology’ produced 29 565 results for 2021 alone, and, consequently, clinicians face spending hours a week scanning journals just to stay up to date. This is coupled with increasing clinical demand due to rising waiting lists and skin cancer pressures. Innovative solutions to the problem include regular newsletters, which have been proven to be an effective tool in medical education in other specialities (Kolli A, Nguyen A, Portney D et al. The Lens: can a weekly newsletter improve medical student knowledge of the ophthalmology literature? J Surg Educ 2021; 78:1905–14). To address this challenge in dermatology, we created a newsletter to make dermatology research more accessible. Two consultant dermatologists created a system whereby clinically relevant articles are chosen following a review of ∼30 journals. These are condensed into short clinical summaries, containing relevant findings, limitations and applicability, emulating a journal club style. This was initially distributed within our local hospital, but the team and readership have since expanded. From January 2022, in addition to the written newsletter, a freely available podcast for each newsletter was created giving an opportunity to learn on the move (e.g. while commuting). At 12 months, the newsletter has 206 subscribers, and the podcast has achieved 810 total plays (with download locations ranging from the USA to India). More recently, we have reached new audiences via Instagram, with 1700 views and 123 likes of the content thus far. A survey was distributed to current subscribers to determine the usefulness of the newsletter as an educational resource. Eighteen responses were received, and 100% agreed that they felt more informed on recent publications in dermatology from reading the newsletter (83% strongly agreed; 17% agreed). In addition to this, 100% felt that the articles chosen were relevant to their clinical practice (78% strongly agreed; 22% agreed). Feedback included comments such as ‘it is a great way to keep informed on recent publications that may be of interest’ and ‘super useful bite-sized information’. The General Medical Council guidance on Good Medical Practice requires doctors to ‘keep professional knowledge and skills up to date’. We feel the interest in our grassroots journal club publication and the survey results (with all our respondents feeling more informed on dermatological research, particularly with articles relevant to their clinical practice) highlight an unmet need for accessible educational resources to enable busy dermatologists to become aware rapidly and efficiently of the latest clinical developments.
H01 Chloracne: historical perspectives on an occupational disease, often the result of notorious environmental poisoning
Authors: Manley Alice , Labbouz Sofia , Gawkrodger David
Published: June 2023

First described by the Heidelberg dermatologist Siegfried Bettman in 1897 as an occupational disease in chemical workers cleaning out towers filled with hydrochloric acid, chloracne—not a true acne, despite showing comedones, cysts and pustules, but the manifestation of systemic poisoning by halogenated aromatic compounds—has been the subject of several controversial environmental disasters for over a century (www.biusante.parisdescartes.fr/sfhd/wp-ontent/uploads/2021/05/chloracne.pdf). These disasters include the 1949 Monsanto plant explosion at Nitro, West Virginia, with 226 affected; the 1976 Seveso disaster, which released tetrachlorodibenzo-p-dioxin (TCDD) over a civilian population of around 100 000 (193 definite cases); and mass poisoning by cooking oils contaminated with polychlorinated biphenyls in Kyushu, Japan, in 1968 (> 2000 affected) and Taiwan in 1979 (> 2000 poisoned). Cases have even occurred in England. An explosion at the Coalite and Chemical Products Company works at Bolsover in 1968 released dioxin, leading to 79 cases of chloracne (https://api.parliament.uk/historic-hansard/lords/1980/mar/14/dioxin-escape-at-bolsover-april-1968). An outbreak in 1992 affected 17 workers in North Derbyshire at a plant manufacturing the herbicide dichloroaniline. Another incident occurred in 1997, when seven pharmaceutical chemists who manufactured triazoloquinoxalines, not previously known to be chloracnegenic but 100 times more powerful than dioxins, were affected. Perhaps the most notorious chloracne poisoning, with TCDD, was that of the Ukrainian president Viktor Yushchenko in 2004. Unless exposure is overwhelming, as it was in Seveso, chloracne takes a few weeks to manifest, and systemic changes can be found in the blood count and liver functions tests. Resolution typically takes about 3 years, although skin changes can be permanent. Dermatologists should be vigilant for new cases, especially at the time of industrial accidents, as the chloracnegenic potential of new chemicals is not always apparent.
H15 A treatment for leprosy developed on the edge of Europe: Vincent Barry (1908–1975)
Authors: Ralph James
Published: June 2023

Leprosy is the prototype of a biblical disease. Without an effective cure, it was deemed a ‘curse’ for millennia. It is an infection caused by Mycobacterium leprae and Mycobacterium lepromatosis. With an affinity for peripheral skin (due to lower temperatures), a rash is a common presenting feature. A tropism to infiltrate neural tissue causes a reduction in sensation leading to repeated injury, infection and disfigurement. Affected individuals were often shunned from society and sent to leper colonies. Treatment for leprosy only became effective in the mid-20th century. Initial treatment for leprosy was with promin and dapsone. Clofazimine and rifampicin were later added in the 1960s–70s. Treatment for leprosy consists of a multidrug therapy regime of rifampicin, dapsone and clofazimine for 6–12 months. This was first recommended by the World Health Organization (WHO) in 1981 and remains the recommended treatment. Clofazimine was developed in a laboratory in Trinity College Dublin by Vincent Barry and his scientific team. Vincent Barry was born in Cork, Ireland, and later graduated in chemistry from University College Dublin. He became associate professor of chemistry in Galway where he lectured bilingually in Irish and English and co-authored the first Irish-language textbook for chemistry (Ceimic). Barry spent time working in and observing leper colonies in both Zimbabwe and India. In 1943, he was given a fellowship by the Medical Research Council of Ireland to carry out research on the chemotherapy of tuberculosis (TB). However, as TB became more curable, he focused his attention on leprosy. His team were given laboratory space in Trinity College Dublin, and in 1957, they developed compound B663, clofazimine. Intended as an anti-TB medication, clofazimine showed more effectiveness against leprosy. The product was launched in 1969 after several clinical trials in Nigeria. In 1974, they devoted the patents of the drug to India to allow it to be produced in a more cost-effective manner. The team was not interested in fame or fortune; their goal was simply to make the drug available in the developing world. They received the Boyle Award from the Royal Dublin Society in 1969, and the UNESCO Science prize in 1980 ‘for their work on the synthesis of an anti-leprosy agent, B-633’. The achievements of Mr Barry and his team, seldom discussed, have led to millions of lives being saved. Clofazimine is part of the WHO Model list of Essential Medicines.
H22 Barking up the right tree: history of quinine
Authors: Yip Alphonsus , Sivarajah Sinthiya , Natkunarajah Janakan
Published: June 2023

Quinine is considered to be one of the most important medical discoveries of the 17th century through its use in treating malaria. Since then, its applications have expanded, and quinine continues to be one of the most widely used drugs in dermatology. Quinine is found in the bark of the Cinchona tree found in the jungles of the Andean region of South America. The exact nature of its discovery remains unclear; however, there are tales of the Spanish Countess of Chinchon being cured of a recurring fever by using liquid containing Cinchona bark. This prompted her to return to Spain in 1638 with the seeds and precious bark; in 1742, botanist Carl Linnaeus named the tree Cinchona in her honour. During the early 17th century, the bark was ground into a powder and mixed with wine. In 1820, French scientists Pierre Pelletier and Joseph Caventou developed the processes to extract quinine from Cinchona bark, improving the potency of the medicine. In the 19th century, as the role of quinine in treating malaria spread, Europeans in the British colonies started planting Cinchona trees to avoid importing large amounts of the drug. Owing to its bitter taste, quinine was mixed with sugar and soda, creating the first tonic water. The tonic water was mixed with gin to make the bitterness of quinine more palatable. Winston Churchill claimed that this drink ‘saved more Englishmen’s lives, and minds, than all the doctors in the Empire’ (Simonetti O, Contini C, Martini M. The history of Gin and Tonic; the infectious disease specialist long drink. When gin and tonic was not ordered but prescribed. Infez Med 2022; 30:619–26). The first documented use of quinine to treat dermatological conditions was produced by Payne in 1894, who reported the successful treatment of skin lesions in discoid lupus erythematosus (Payne J. A postgraduate lecture on lupus erythematosus Clin J 1894; 4:223–9). In 1951, a case series in the Lancet of 20 patients with lupus erythematosus and rheumatoid arthritis who were successfully treated with quinacrine, led to the extensive use of antimalarials to treat skin and joint conditions (Page F. Treatment of lupus erythematosus with mepacrine. Lancet 1951; 258:755–8). This was later succeeded by chloroquine: a synthetic analogue was first synthesized in the 1930s by Hans Andersag. However, it was noted to have significant toxicities, which led to the production of hydroxychloroquine, a similar drug with a much-improved side-effect profile. After 400 years, quinine and its synthetic derivatives continue to play a major role in managing dermatological conditions.
PA02 A teenager with a bleeding neck nodule
Authors: Finnegan Paula , Sadlier Muriel
Published: June 2023

A 14-year-old boy was referred to dermatology with a new bleeding lesion on his right neck that had grown rapidly. There was no preceding history of trauma. Physical examination revealed a discrete eroded pink nodule measuring 10 × 9 mm on his right neck. Dermoscopic examination showed a central area of ulceration, with polymorphous vessels, white lines and multiple shades of pink and milky-white areas. This was excised. Histology confirmed the diagnosis of ulcerated superficial spreading malignant melanoma with a Breslow thickness of 4.8 mm (pT4b). BRAF v600e mutation was present. Initial staging with sentinel lymph node biopsy and whole-body positron emission tomography/­computed tomography were clear, but 6 months after presentation, he developed right-sided cervical lymphadenopathy and a parotid mass that was confirmed to be metastatic disease. Following a right parotidectomy and neck dissection, he was commenced on adjuvant treatment with dabrafenib and trametinib. He remains under close follow-up. Less than 1% of all melanomas are diagnosed in patients younger than 20 years of age. Most paediatric cases occur in adolescence (between 15 and 19 years of age). The majority arise sporadically. Risk factors for melanoma in childhood include giant congenital melanocytic naevi, personal history of malignancy, family history of melanoma, multiple (> 50) melanocytic naevi, history of sunburn or tanning-bed use, immunosuppression or genodermatoses (e.g. xeroderma pigmentosum). Most clinicians are familiar with the ‘ABCDE’ tool (asymmetry, border irregularity, colour variegation, diameter > 6 mm, evolution) used to help with the recognition of melanomas; however, melanoma in children often presents in an atypical fashion. Paediatric melanomas often lack pigment (amelanotic) and are nodular, and so may be misdiagnosed. Because of this, diagnosis may be delayed and patients often present with thicker tumours and lymph node involvement. To facilitate earlier diagnosis, modified ABCD detection criteria have been proposed for paediatric melanoma (amelanosis, bleeding/bump, colour uniformity, de novo development) that can be used in conjunction with the established ABCDE approach. The CUP criteria have also been described (colour that is pink/red/changing, ulceration/upward thickness, pyogenic granuloma-like lesions/pop-up of new lesions). Evolution remains an important point to consider when suspecting melanoma in patients of any age. Management and staging of paediatric melanoma is adopted from the American Joint Committee on Cancer melanoma staging system guidelines for adult melanoma. Currently, there are no specific guidelines for the management of melanoma in children. The mainstay of treatment is surgical resection. Sentinel lymph node biopsy should be considered with ulceration or a Breslow thickness of > 0.75 mm. Patients with stage III and IV melanoma should be considered for adjuvant immunotherapy. All patients with melanoma should be followed-up with regular skin examinations.
PA11 Congenital erosive and vesicular dermatosis healing with reticulated supple scarring and comedome-like lesions
Authors: Lim Puo Nen , Beattie Paula
Published: June 2023

A 23 + 4-week gestational age female infant was born via spontaneous vaginal delivery following a premature spontaneous rupture of membranes (SROM). Pregnancy had been uneventful and antenatal scans were normal. After SROM, her mother was treated with intravenous antibiotics for septicaemia secondary to Escherichia coli infection. A vaginal swab 4 days prior to delivery grew group B streptococcus. The infant was subsequently prescribed benzylpenicillin and gentamicin for suspected chorioamnionitis. At 8 days old, she developed a vesicular eruption on her right shoulder, initially described as linear, which subsequently spread to affect both upper arms, back and buttocks. An older sibling was reported to have microcephaly and multiple developmental issues. Genetic testing for incontinentia pigmenti was negative, and the lesions subsequently evolved to form reticulate supple scarring-associated clusters of comedones. She was treated with adapalene 0.1% cream to aid remodelling of the epidermis. Congenital erosive and vesicular dermatitis (CEVD) is a rare disorder characterized by widespread superficial erosions and vesicles on the torso and limbs, with relative sparing of the face, palms and soles (Tlougan BE, Paller AS, Schaffer JV et al. Congenital erosive and vesicular dermatosis with reticulated supple scarring: unifying clinical features. J Am Acad Dermatol 2013; 69:909–15). The lesions typically heal within months to form supple dyspigmented scarring in a reticulate pattern. The CEVD can be associated with neurological abnormalities, ocular defects, hypoplastic or absent nails, cicatricial alopecia and hypohidrosis in areas of scarring with subsequent heat intolerance (Kong BY, Mancini AJ. Congenital erosive and vesicular dermatosis with reticulated supple scarring. Arch Dis Child Fetal Neonatal Ed 2018; 103:F78). The pathogenesis of CEVD is unclear, but proposed aetiologies include intrauterine infections, amniotic adhesions and birth trauma (Tlougan et al.). It is strongly associated with prematurity and being small for gestational age. This case is unique as the patient developed comedones, which has not been reported in other cases of CEVD. This adds to the wide clinical spectrum of CEVD. It is important for dermatologists to be aware of this condition as a differential diagnosis of vesicular eruption in neonates.
PA13 Unilateral facial flushing in a 3-year-old girl
Authors: Bryan Patrick , Kalavala Manju
Published: June 2023

A 3-year-old girl presented with an 18-month history of left-sided facial erythema involving her left cheek. This occurred within seconds to minutes after eating food and lasted between 5 and 20 min before complete spontaneous resolution without any associated symptoms. The flushing was not confined to a particular food type. She was born at 37 weeks via forceps-assisted delivery, which had resulted in a small laceration to her left upper cheek. She had no significant past medical history and was not on any medications. Her twin sister did not suffer from the same phenomenon. Examination revealed no abnormalities to her facial skin. Ingestion of a chocolate bar provoked immediate subtle erythema extending from her left preauricular skin to her left mid-cheek. Overlying skin texture and temperature was unchanged, and there was no associated hyperhidrosis. Examination of the cranial nerves was unremarkable at baseline and after provocation. The erythema completely resolved after 5 min. This little girl had Frey syndrome (FS) secondary to traumatic forceps-assisted delivery at birth. Frey syndrome typically consists of gustatory hyperhidrosis and flushing in response to chewing or the smell, taste or thought of food in the auriculotemporal distribution. It is due to aberrant regeneration of parasympathetic fibres instead of sympathetic fibres along the auricolotemporal branch of the mandibular nerve following trauma or infection to the parotid gland (O’Neill JP. Lucja Frey—historical relevance and syndrome review. Surgeon 2008; 6:178–81). Instead of causing the production of saliva in response to food, the aberrant fibres cause flushing and hyperhidrosis. In adults, FS is associated with previous surgery to the parotid gland. There are case reports of it arising as a consequence of forceps-assisted delivery in infants. One study reported eight cases of FS in infants in response to a food stimulus. Six of the cases had a history of forceps-assisted delivery. None of the infants experienced any associated hyperhidrosis. It was concluded that FS arose from trauma to the parotid gland following forceps-assisted delivery at birth. All cases resolved spontaneously without treatment (Dizon MV. Localized facial flushing in infancy. Auriculotemporal nerve (Frey) syndrome. Arch Dermatol 1997; 133:1143–5). The FS is often erroneously attributed to a food allergy. A thorough history for previous trauma to the parotid region or forceps-assisted delivery is recommended in infants with unilateral facial flushing. As FS runs a benign, self-limiting course in children, our patient was reassured and discharged without treatment.
PA14 Aquagenic palmar wrinkling in a 15-year-old swimmer
Authors: Porter Emma , O’Connor Cathal , Murphy Lesley-Ann
Published: June 2023

A 15-year-old girl presented with a 1-year history of recurrent palmar wrinkling on contact with water. This was associated with a burning sensation within minutes of water exposure and progressive persistent thickening of the palmar skin. She was otherwise well, with no family history of note, including cystic fibrosis (CF). She had no regular medication or newly introduced medications before the onset of wrinkling. Moderate improvement in hyperkeratosis was seen with twice-daily use of urea 10% and salicylic acid 10% creams; however, the discomfort experienced in water was negatively affecting her ability to continue competitive swimming. On examination, there was palmar hyperlinearity with focal hyperkeratosis over the thenar and hypothenar eminences. Immersion of the hands in lukewarm water resulted in wrinkling within 2 min and peaking at 3 min, at which point the patient reported a burning sensation. Wrinkling resolved within 30 min of drying her hands. Baseline laboratory investigations were normal. Biopsy of the palm in the wrinkled state showed subtle prominence and dilation of sweat gland ducts. A diagnosis of aquagenic syringeal keratoderma (ASK) was made. At the 3- and 6-month reviews, the patient reported spontaneous resolution of wrinkling on contact with water, which was confirmed clinically. Residual hyperkeratosis had similarly resolved, although subtle palmar hyperlinearity persisted. She was able to resume competitive swimming activities without symptoms. The ASK is a rare condition, classically affecting the palms of young women, in which palmar wrinkling occurs within minutes of immersion in water. It may be asymptomatic or associated with stinging, burning or paraesthesia. Palmar wrinkling typically resolves after drying of the hands without persisting signs. The mechanism for this phenomenon is unclear, with theories including acquired abnormalities in eccrine glands, an underlying primary keratoderma, or potential induction by cyclooxygenase. Aquagenic palmar wrinkling is also recognized in association with CF, both in individuals with the disease and carriers, with more rapid onset of wrinkling in the former. In this case, there was no suggestion of personal or family histories of CF, and hyperkeratosis persisted for months at a time until liberal regular use of keratolytic topical agents was introduced. Hereditary papulotranslucent acrokeratoderma, a differential diagnosis in this case, was considered; however, in this condition once papules and wrinkling appear, they typically remain and are further exacerbated by water exposure. For this patient, a diagnosis of atypical ASK was favoured due to the persisting sequelae, with probable mild atopic dermatitis reflected by palmar hyperlinearity. This case serves to highlight this rare dermatological phenomenon and its impact on a teenage swimmer.
PA18 Pityriasis rotunda associated with glucose-6-phosphate deficiency in an adolescent boy
Authors: Ashcroft Samuel , Murali Senthil
Published: June 2023

Pityriasis rotunda is an uncommon disorder related to abnormal keratinization, which is characterized clinically by well-defined, scaly, round hypo- or hyperpigmented plaques present over the buttocks, thighs, trunk and lower limbs. It is thought to be a form of acquired ichthyosis. Two types of pityriasis rotunda are often described: type 1, which typically presents in Black and Asian patients > 60 years of age, and is often associated with systemic disease or malignancy; and type 2, which typically presents in patients < 40 years and without associated systemic disease, and may have a familial component. Pityriasis rotunda is particularly rare in children, although case reports have been published in the literature. We present an unusual case of pityriasis rotunda presenting in a 13-year-old boy of Ghanaian descent, with no significant family history. Examination demonstrated typical discrete, hyperpigmented, oval-shaped plaques appearing on the lower limbs and thighs. Biopsy demonstrated typical orthokeratosis, an attenuated granular layer and hyperpigmentation of basal keratinocytes. He was subsequently diagnosed with glucose-6-phosphate dehydrogenase deficiency, which is reported to be associated with pityriasis rotunda. This represents a rare case of pityriasis rotunda presenting in childhood, and may support an association with glucose-6-phosphate dehydrogenase deficiency.
PA21 A rare case of diffuse infantile fibromatosis
Authors: Goh Alicia , Lynch Maeve
Published: June 2023

Fibromatoses are a heterogeneous collection of tumours of the skin and soft tissue with a large variability in presentation. We present a case of diffuse infantile fibromatosis in a 17-day-old infant boy. He was born at 40 + 7 weeks gestation with a vacuum-assisted delivery following an uncomplicated pregnancy. On physical examination, there were two well-circumscribed circular plaques that coalesced centrally on his left elbow. The plaque measured 2 × 1 cm and was firm, nontethered and nontender. Full skin examination was otherwise normal. Histopathological examination showed hyperkeratotic skin with an attenuated epidermis overlying a dermally based bland-appearing spindle cell proliferation. The lesion was infiltrative throughout the dermis and was arranged in short fascicles and interdigitated with subcutaneous fat, which was extensively trapped by spindle cells. There was no significant atypia and mitotic activity was identifiable but not brisk. Immunohistochemical stains showed strong and diffuse reactivity for smooth muscle actin. Infantile fibromatosis is the childhood counterpart of musculoaponeurotic fibromatosis. It is a benign mesenchymal tumour of infancy and early childhood with diffuse proliferations of oval-to-spindled fibroblasts that infiltrate regional structures. There is a male predominance and in most cases is noted within the first 8 years of life. Clinically, it presents as an asymptomatic, white-yellowish mass that is nontethered to the overlying skin. Although any site may be involved, the majority of cases affect the upper limbs, head and neck region. Histological findings include a wide morphological spectrum. In infants, small oval cells appearing between primitive mesenchymal cells and fibroblasts are in a myxoid background. The cells are loosely arranged and infiltrate skeletal muscle and other regional structures. Peripheral lymphocytic inflammation blends with more cellular proliferation composed of spindle-shaped fibroblasts arranged in bundles and fascicles. There is no well-documented immunohistochemical profile. An important differential diagnosis to exclude is congenital/infantile fibrosarcoma, which, characteristically, has high cellularity, uniform herringbone pattern, high mitotic rate, and zones of haemorrhage and necrosis. In terms of management, as there is a high likelihood of local recurrence in 65% of cases, evidence supports complete excision with documented margins. Where the lesion is diffusely infiltrative, a partial resection to maintain the best postoperative function is recommended.
PA31 Congenital alopecia areata: a systematic review
Authors: Feschuk Aileen , Green Maxwell , Valdebran Manuel
Published: June 2023

Alopecia areata (AA) describes nonscarring, generally patchy, hair loss that can affect the entire scalp [alopecia totalis (AT)] and body [alopecia universalis (AU)]. AA is considered to be an acquired autoimmune condition. However, cases of congenital AA (CAA) have been reported. This study aimed to summarize and analyse data from existing CAA reports. No funding was obtained for this research. Following the PRISMA guidelines, PubMed and Web of Science were searched. Records reporting cases of AA present at birth were included. Twelve patients were identified, with a female predominance (n = 7; 58%). Three were premature (25%). Alopecic pattern at birth was AA in eight cases (67%), AT in two (17%) and AU in two (17%). A positive family history of AA was reported in five cases (42%). The AA diagnosis was clinical in eight cases (67%) and biopsy-proven in four (33%). Nine patients received/reported treatment (75%). Of those treated with topical corticosteroid (TCS) alone (n = 3/9; 33%), two demonstrated total regrowth (67%), while one experienced development into AU (33%). Two patients were treated with TCS and a topical vasodilator (TV), minoxidil (22%). One experienced full regrowth, while the other demonstrated partial regrowth, until the TCS was discontinued (i.e. the TV was used alone), and AT resulted. One patient was treated with TCS and oral antihistamine (11%), and one was treated with placebo lotion (11%). Both experienced partial regrowth. Two patients were treated with oral pulse steroid, a topical immunomodulator and TV, but no follow-up was provided (22%). Limitations of this review include small sample sizes and the possibility of missed cases due to a lack of well-established terminology and under-reporting. Additionally, not all cases were biopsy-proven. Biopsy is not necessary for AA diagnosis but is helpful in confirming unique (e.g. congenital) presentations of the condition. Given that AA is typically considered an acquired autoimmune condition, congenital cases call our understanding of AA into question. However, a positive family history in five cases suggests that genetic factors are involved in the development of CAA, as with acquired AA. Additionally, the female predominance of CAA is in keeping with acquired AA. Finally, given that TCSs yielded partial or total hair regrowth in five of six patients who received them (83%), TCSs are a reasonable first-line treatment option for CAA. In conclusion, CAA should be considered as a differential diagnosis of alopecia in the newborn, and increased CAA awareness should result in an increased number of patients receiving proper treatment.
PA32 Severe lichen planus with co-localization of vitiligo: a rare and unusual case
Authors: Patel Pooja , Salimi Maryam , Al-Kutubi Huda , Andrews Kashini , Bhat Jaideep
Published: June 2023

A 13-year-old boy was seen in the urology clinic for hypo­pigmented patches on the glans penis. He underwent circumcision for presumed balanitis xerotica obliterans, but histological examination of the skin showed lichen planus (LP). This prompted a full skin check by the team, which showed similar patches on the scrotum, anus and ears. A referral was made to dermatology for further assessment. Closer history revealed a 1-year history of inflamed patches behind the ears that spread to the periorbital and penile regions. Concurrent patchy hair loss was noted over this time period; otherwise, he was asymptomatic, with no relevant past medical or family history. Full skin check revealed extensive areas of well-circumscribed erythema on the penis, peri-orbitally and within the conchal bowl of both ears. Areas of scarring alopecia were present with complete loss of the eyelashes. The severity of his condition warranted the immediate commencement of high-dose oral steroid therapy and a trial of protopic 0.1% ointment. A review 6 months later showed no further erythema but areas of clearly defined depigmentation where there was previously active LP, particularly across the nose and periorbitally, consistent with vitiligo. Ongoing follow-up at 1 year showed the stable appearance of these areas, despite ongoing use of topical calcineurin inhibitor. Co-localization of vitiligo in the context of LP is a rare entity, noted in only 10 case reports in the literature. The fact that both LP and vitiligo are common, each said to affect 1–2% of the general population, may mean that their association is merely a coincidence. However, a number of publications suggest that a causal link must be present as similar immunological mechanisms are shared by the two conditions. The aetiology of both LP and vitiligo is known. Various theories exist, including the autoimmune hypothesis, as both conditions are immunologically mediated. Another assumes inflammatory mediator release from ultraviolet damage, particularly on areas of photosensitive depigmented skin. A third supposes that photodamage induces Koebner phenomenon on vitiligo-affected skin, resulting in LP on these areas. No theory has been proven definitively. In most cases, vitiligo is described as the precursor disease; rarely, both diseases occur concomitantly and progress together. We present a rare case of LP preceding vitiligo. Our case not only demonstrates the importance of a full skin examination in diagnosing lesions, but provides further evidence that this association is more than coincidental. More studies into these conditions are needed to understand this phenomenon in its entirety.
PA33 Paediatric and adolescent hidradenitis suppurativa: a snapshot of a single centre’s experience
Authors: Griffin Laoise , Eve Katherine , Lenane Patsy , Browne Fiona
Published: June 2023

Hidradenitis suppurativa (HS) is a chronic inflammatory debilitating condition that primarily affects younger people. Its exact prevalence is unknown, but it is estimated to affect at least 1% of the Irish and UK population. Onset is late adolescence and the early 20s in the majority. The impact of early-onset HS (< 18 years) is increasingly recognized, but awareness and knowledge of disease prevalence and severity in Ireland remain sparse. Studies in adults highlight association with a raised body mass index (BMI) and smoking, in addition to an increased prevalence in young females with African American or mixed ancestry. Presently, there is an absence of specific guidelines for management in those aged < 18 years. With rising obesity levels, combined with decreasing pubertal age, we may encounter early-onset HS more often in future. We present a snapshot of patients with HS attending a single paediatric hospital who were considered for systemic therapy. Ten patients were included (eight females). Mean (SD) age of symptom onset was 12.4 (1.9) years, mean (SD) age of presentation was 14 (2.1) and mean duration of symptoms prior to presentation was 1.5 years. Nine received systemic therapy (nine antibiotics and four biologics). Disease severity, defined by Hurley stage, was mild in one, moderate in five and severe in four. All patients had achieved puberty, one was defined as early-onset (age 10 years) and another as precocious (age 9 years). The BMIs varied: one was normal, two were above a healthy weight, five were very overweight and three were severely overweight according to UK centiles. Most patients experienced comorbidities, including, but not limited to, Crohn disease (n = 1), hepatic steatosis (n = 2), pilonidal sinus (n = 3) and acne (n = 5). One had diabetes, two impaired fasting glucose and one hypercholesterolaemia. No patient reported smoking. Passive smoking and blood pressure were not documented. Four patients had positive family histories. Six patients identified as Black Irish (one Irish Caribbean and five Irish Nigerian), two were White Irish, one patient was from India and one was from Poland. We describe a group of individuals aged ≤ 16 years, the majority of whom had moderate–severe HS. They had similar comorbidities to internationally reported literature in early-onset HS. More skin of colour ethnicities are represented than seen in the general Irish population, which probably reflects both the catchment area and severity of the skin conditions experienced. The limitations of our study include under-representation of milder disease due to an inability to perform a full cross-sectional study at present. Further prospective studies are required to capture the prevalence and characteristics of HS fully in our population of children and young adults. Considering the lifetime impact of this condition, guidelines for the management of HS under the age of 18 years should be considered.
PD01 First UK report of pregnancy and childbirth in X-linked erythropoietic protoporphyria
Authors: Schulenburg-Brand Danja , Powell James , Srivastava Pushplata , Swingler Rebecca , Peek Russell
Published: June 2023

X-linked erythropoietic protoporphyria (XLEPP), an exceptionally rare form of cutaneous porphyria, is characterized by significant acute painful photosensitivity and a risk of both reduced bone mineral density and protoporphyric hepatopathy that may progress to liver failure. Diagnosis requires demonstration of significantly elevated red cell total porphyrins consisting of both zinc and free protoporphyrin analysed on venous whole blood. As the condition is X-linked, any offspring of an affected woman has a 50% chance of inheriting the disease-causing ALAS2 gain-of-function mutation. There are no reported cases of pregnancy in XLEPP in the literature, and no published experience of managing newborn infants that may have inherited XLEPP who develop neonatal jaundice, which requires treatment with phototherapy. Here we describe the clinical course of a 29-year-old woman with XLEPP (part of a four-generation XLEPP family) and idiopathic thrombocytopenia during pregnancy—the first documented case in the UK, to our knowledge. A multiprofessional team considered the potential risks posed by XLEPP and idiopathic thrombocytopenia for the pregnancy, birth and newborn. Haematological and biochemical indices were monitored throughout the pregnancy. The mother experienced increased photosensitivity and worsening idiopathic thrombocytopenia during the pregnancy, the majority of which occurred over summer. Idiopathic thrombocytopenia did not respond to treatment with steroids and immunoglobulin, necessitating a general anaesthetic for the planned caesarean section. A male infant was born in good condition at term. Maternal blood loss was only just above average. The baby remained well in the immediate postnatal period. Although the baby did not require treatment for jaundice, management planned in advance included minimizing factors predisposing to jaundice, including optimal timing of cord clamping and early feed support, the urgent analysis of cord blood erythrocyte porphyrins within 24 h, using a light-emitting diode phototherapy device with narrow spectrum emission between 450 and 470 nm and minimal emission at 400 nm, monitoring the baby closely for signs of distress and skin changes, and considering adjustment of the phototherapy thresholds or using alternative treatments should jaundice occur. Cord blood erythrocyte total porphyrin results suggested the baby had inherited XLEPP and would be photosensitive. This was later confirmed by mutation analysis.
PD06 Efficacy of dupilumab in chronic actinic dermatitis
Authors: O’Reilly Marese , Paolino Alexandra , Salam Amr , Pathmarajah Pirunthan , Ferguson John , Dawe Robert S , Sarkany Robert , Smith Catherine S , Pink Andrew E , Fassihi Hiva , Ibbotson Sally
Published: June 2023

Chronic actinic dermatitis (CAD) is characterized by a photoexposed site dermatitis in association with objective evidence of photosensitivity, often arising on a background of atopic dermatitis (AD). Dupilumab is a monoclonal antibody that inhibits signalling of interleukin (IL)-4 and IL-13 and is licensed for the management of moderate-to-severe AD. To date, nine case reports have suggested that dupilumab can be clinically effective for CAD, yet only five cases had diagnostic baseline phototesting and only two cases could demonstrate objective improvement in photosensitivity on repeat testing. We report a retrospective case series from two UK photobiology units of 11 patients with concomitant AD and CAD treated with dupilumab. Inclusion criteria included baseline phototesting with an irradiation monochromator device confirming a diagnosis of CAD < 3 years prior to starting dupilumab, phototesting repeated after at least 16 weeks on dupilumab and all patients included were refractory or intolerant to at least one other systemic therapy prior to dupilumab. Eleven patients [82% male, median age 40 years (range 21–59) at diagnosis] of skin phototypes I–V were included. All patients had a pre-existing diagnosis of AD before the onset of CAD, and two patients also had a pre-existing diagnosis of allergic contact dermatitis. The average duration of dupilumab therapy prior to repeat phototesting was 15 months (range 4–44). Ten of 11 (91%) patients reported improvement in their AD in terms of both rash and pruritus. Five of 11 patients (45%) reported partial improvement in their subjective photosensitivity of whom two showed ultraviolet B monochromator improvement (3- to 6-fold). Six of 11 (55%) patients reported no clinical change in photosensitivity of whom two showed no improvement or worsening on phototesting; while four showed improvements, they remained in the severely photosensitive range on phototesting. While dupilumab is an effective therapy for moderate-to-severe AD, its potential benefit in managing CAD is more difficult to measure. In 91% of patients with CAD, dupilumab was associated with improvement in AD, while clinical or objective improvement in photosensitivity occurred in 82%, albeit sometimes only to a slight degree. However, these data suggest that, for patients with CAD and concomitant AD, reducing the eczematous response is beneficial and that dupilumab is a treatment worth exploring for this patient cohort for whom other treatment options are limited. Prospective studies of dupilumab in CAD are required to further evaluate its utility in this therapeutically challenging condition.