bluuebunny/crossref_metadata_2025_split huggingface dataset:
PA02 A teenager with a bleeding neck nodule
Authors: Finnegan Paula , Sadlier Muriel 
Published: June 2023

Abstract
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 (&gt; 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 &gt; 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 &gt; 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

Abstract
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

Abstract
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

Abstract
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

Abstract
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 &gt; 60 years of age, and is often associated with systemic disease or malignancy; and type 2, which typically presents in patients &lt; 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

Abstract
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

Abstract
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

Abstract
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.