bluuebunny/crossref_metadata_2025_split huggingface dataset:
Principles of Holistic Management of Skin Disease
Authors: Gibbs Sam 
Published: August 2023

Abstract
In the last 50–100 years medical practice has become increasingly shaped and influenced by technological advances. The idea of holistic management is in part a reaction against what is perceived as the increasingly technical and impersonal nature of medical care, particularly in so‐called developed societies. Holistic practice embraces a range of concepts but essentially refers to the appreciation and inclusion of broader social, psychological and spiritual factors in medical practice. Thus the holistic management of skin disease involves considering the whole patient and not just their disease and the technical aspects of its diagnosis and treatment. Social, psychological and spiritual factors can have a direct influence on the effectiveness of treatments, particularly in dermatological practice, although there is a dearth of good research in this area. Patient education and empowerment, including the involvement of patients in self‐help groups, is also an increasingly important component of holistic care.
Principles of Photodynamic Therapy
Authors: Ibbotson Sally , McKenna Kevin 
Published: August 2023

AbstractTopical photodynamic therapy is widely used for the treatment of superficial non‐melanoma skin cancer and dysplasia and has been shown to be at least as effective as non‐surgical standard comparators such as topical fluorouracil and cryotherapy. British and European guidelines are available for its use, and treatment is undertaken on an out‐patient basis and is generally well tolerated, with the exception of pain during irradiation in a significant proportion of patients. Optimization of treatment regimens to improve efficacy and reduce side effects have included refinements in pro‐drug development and delivery and in the methods of light delivery, in particular using reduced irradiance regimens. The use of topical photodynamic therapy (PDT) has also been applied to a wide range of other diverse skin diseases including acne vulgaris and recalcitrant viral warts and it may have a role in some of these conditions, although further studies are required. It is important that topical PDT services are widely available in dermatology, particularly to those involved in skin cancer management, through the multidisciplinary team, and that standards and clinical governance for PDT are established.
Principles of Radiotherapy
Authors: Kelly Charles G. , Frew John 
Published: August 2023

AbstractThe clinical effects of ionizing radiation on the skin have been known since the discovery of X‐rays in 1895. Initially, both benign and malignant skin conditions were irradiated, and dose and clinical indications were chosen empirically with little knowledge of the late effects of radiation on the skin and subcutaneous tissue. Indications for treating benign disease by irradiation have declined since the advent of topical steroids. It is in the best interest of patients suffering from skin tumours to be seen in a clinic where the expertise of specialists in radiotherapy and oncology, plastic surgery and micrographic surgery as well as dermatology are present. This is being achieved with the mandatory development of multidisciplinary team meetings and clinics in the UK as described in the National Institute for Health and Care Excellence guidelines of 2006.
Bacterial Infections
Authors: Hay Roderick J. , Morris‐Jones Rachael 
Published: August 2023

AbstractThis chapter starts by considering the resident bacterial population of the skin and how this has altered with our growing understanding of the skin microbiome. It then reviews the whole range of bacterial skin infections from primary Gram‐positive infections due to staphylococci and streptococci to the less common infections caused by Gram‐negative and anaerobic bacteria. The cutaneous manifestations of common and rare systemic bacterial infections such as staphylococcal septicaemia and melioidosis are described in practical detail. Using new work on antibiotics, the spread of drug resistance amongst skin bacterial pathogens is reviewed and its relevance clarified in the treatment algorithms. Rickettsial infections are also considered.
Mycobacterial Infections
Authors: Yates Victoria M. , Walker Stephen L. 
Published: August 2023

AbstractInfections of the skin caused by mycobacteria have a wide geographical distribution. The clinical manifestations are varied and not necessarily species‐specific.Mycobacterium tuberculosisinfection of the skin is often a chronic infection but may present as immunological phenomena – tuberculids. An increasing number of species are recognized as causing non‐tuberculous mycobacterial infections. Immunosuppression appears to increase the risk of some mycobacterial infections and the role of HIV and iatrogenic immune modulation are notable risk factors. Molecular diagnostics have increased the ability to identify specific organisms but prolonged antimicrobial therapy is often required.
Leprosy
Authors: Lockwood Diana N. J. 
Published: August 2023

AbstractLeprosy is a chronic granulomatous disease caused by infection of the skin and nerves withMycobacterium lepraeand about 250 000 new cases are diagnosed annually, 60% of which are in India. The patient's host immune response to the mycobacteria determines clinical presentation and the occurrence of immune‐mediated reactions and neuritis. Skin lesions range from anaesthetic macules to nodules. Diagnosis is clinically based on the type of skin lesion, peripheral nerve thickening and the presence of mycobacteria in the skin. A skin biopsy is often useful in diagnosing leprosy. Nerve damage causes sensorimotor damage affecting the hands, feet and eyes. The infection is readily treatable with a combination of antibiotics (e.g. rifampicin, dapsone, clofazimine) but the associated nerve damage and inflammation is difficult to switch off and patients may need repeated courses of steroid treatment. Leprosy patients are still stigmatized and this needs combatting at all levels; most patients are not infectious.
Syphilis and Congenital Syphilis
Authors: Kinghorn George R. , Omer Rasha 
Published: August 2023

AbstractSyphilis is among the most fascinating of skin diseases. It may present to the dermatologist as a sexually acquired, contagious disease or as a congenitally acquired infection. When sexually acquired, it commonly coexists with at least one other sexually transmitted infection. Although syphilis is endemic worldwide, its steady decline over the last 400 years has been punctuated by epidemic peaks associated with unstable social conditions or upheavals. These changes include mass migrations and wars, as well as growing prosperity and economic reversals precipitating real or relative poverty. More recently, rates of primary and secondary syphilis have increased in the past decade, warranting renewed attention to the diagnosis and treatment of this disease.
Graft‐Versus‐Host Disease
Authors: Basu Tanya N. 
Published: August 2023

AbstractGraft‐versus‐host disease is a major complication of allogeneic haematopoietic stem cell transplantation. It is a multiorgan disease process that results from the action of donor‐derived immunocompetent T‐lymphocyte cells against antigens expressed on the cells of the immunocompromised recipient host. The main organs affected are the skin, liver and gastrointestinal tract. Acute, chronic and overlap forms are recognized.
Atopic Eczema (Atopic Dermatitis)
Authors: Ardern‐Jones Michael R. , Flohr Carsten , Reynolds Nick J. , Holden Colin A. 
Published: August 2023

AbstractAtopic eczema is a chronic, relapsing, inflammatory skin condition characterized by itch which affects 20–30% of schoolchildren and 5–10% of adults in the UK. The increased prevalence in both western industrialized countries and developing nations over the last 20 years highlights the strong role of environmental factors in mediating the disease. However, the identification of a strong association between atopic eczema and mutations in the gene encoding filaggrin in 2006 has provided a paradigm shift in our understanding of the role of genetics in this condition and the importance of the function of the epidermal barrier. Indeed, interventions to repair the epidermal barrier show promise in both the treatment and prevention of atopic eczema and its complications. T‐helper 2 cells are central to mediating atopic eczema inflammation and specific targeted interventions are progressing well in clinical trials. Further developments in our understanding of disease pathogenesis, including the role of thymic stromal lymphopoeitin, and recently discovered subsets of immunocytes, are exciting targets and provide an optimistic future for the management of this challenging disease. However, topical therapy with emollients, corticosteroids and calcineurin inhibitors remains the mainstay of treatment. Thus, for more severe disease, current therapeutic options remain limited. As a result, atopic eczema still contributes a significant quality of life and financial burden on society and health care systems worldwide.
Autoinflammatory Diseases Presenting in the Skin
Authors: Lipsker Dan , Grattan Clive E. H. , Lovell Christopher R. 
Published: August 2023

AbstractAutoinflammatory diseases comprise a heterogeneous group of inherited monogenic and acquired polygenic multisystem disorders that may present in the skin and are therefore of importance to dermatologists. The inherited monogenic disorders typically present in childhood. Those that present with urticarial rashes are particularly important to differentiate from chronic urticaria since the pathogenesis, prognosis and treatment are completely different. Cryopyrin‐associated periodic syndrome should be suspected in children with a family history of chronic urticaria that does not respond to H1antihistamines and who have systemic symptoms of malaise and fever with persistently raised inflammatory indices. Autoinflammatory syndromes also may present with unexplained fever, erysipelas‐like rash (familial Mediterranean fever), oedema (tumour necrosis factor receptor‐associated periodic syndrome), pustulosis and lipoatrophy (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature), an aseptic pustular dermatosis (deficiency of interleukin 1 receptor antagonist) or pyoderma gangrenosum (pyogenic sterile arthritis, acne and pyoderma gangrenosum). Acquired autoinflammatory syndromes which present in adult life include Schnitzler syndrome and adult Still disease; the differential diagnosis includes urticarial vasculitis.
Mastocytosis
Authors: Grattan Clive E. H. , Radia Deepti H. 
Published: August 2023

AbstractMastocytosis is a rare multisystem disorder of increased mast cell numbers in the skin and other tissues. Molecular genetic analysis of bone marrow reveals a mutation ofKITin nearly all adult patients with systemic disease. Although mastocytosis is primarily a haematological disorder, it often presents with skin lesions to dermatologists or paediatricians. Patients may also present with symptoms or complications of the disease to allergists, metabolic bone disease specialists or accident and emergency departments. A diagnosis of mastocytosis can be confirmed by lesional skin biopsy. Systemic mastocytosis is usually diagnosed by bone marrow biopsy. Local or systemic symptoms from mast cell mediator release are common. Complications of adult disease include anaphylaxis, osteoporosis and the lifetime development of associated haematological non‐mast cell diseases. At least 50% of children will grow out of mastocytosis by puberty, particularly those with early‐onset disease. Treatment is aimed primarily at symptom control with antimediator drugs, including H1 antihistamines, but patients with advanced systemic disease may require cytoreductive drugs.
Reactive Inflammatory Erythemas
Authors: Rustin Malcolm , Cerio Rino 
Published: August 2023

AbstractMultiple skin conditions can present with ring‐like or annular lesions for which a specific diagnosis can be made (e.g. tinea corporis, granuloma annulare, psoriasis or annular sarcoidosis). This chapter describes a group of conditions that do not necessarily lead to a specific underlying diagnosis and may pose diagnostic and therapeutic problems. It includes erythema multiforme, annular erythema of infancy, necrolytic migratory erythema (NME), erythema annulare centrifugum (EAC), erythema gyratum repens and erythema marginatum. EAC and subacute cutaneous lupus will be covered in separate chapters. Each eruption may have characteristic features and although diagnosis of erythema multiforme is often easy and there are a limited number of underlying causes, the diagnosis of NME may take time in view of the different manifestations of the disease. Physicians should be alert to the subtle eruption of erythema marginatum and the importance of diagnosing rheumatic fever. These cutaneous signs therefore present a challenge with heterogenous diseases presenting with varying morphologies.
Dermatomyositis
Authors: Gordon Patrick , Creamer Daniel 
Published: August 2023

AbstractDermatomyositis (DM) is an autoimmune disorder of skin and muscle characterized by a broad spectrum of cutaneous manifestations. The dermatosis of DM may occur in isolation (clinically amyopathic DM) but myositis is usual and can lead to profound weakness. Involvement of the oro‐pharynx and the upper oesophageal sphincter in DM causes dysphagia. Aspiration pneumonia, exacerbated by respiratory muscle weakness, is the life‐threatening complication of oro‐pharyngeal involvement. There is a strong association between DM and internal malignancy, with studies indicating that up to one‐third of adult patients have an underlying cancer. Pathogenetically, DM is a humorally mediated microvasculopathy; the majority of patients have disease‐associated autoantibodies, notably the myositis‐specific antibodies (MSAs), including anti‐Mi‐2, TIF‐1γ, MDA‐5, Jo‐1 and SUMO activating enzyme. MSAs are specific for myositis and help define phenotype. Systemic corticosteroids are the primary treatment when both skin and muscles are involved. An immunosuppressant agent, such as azathioprine, methotrexate or mycophenolate mofetil, is usually needed to control the inflammatory activity and limit corticosteroid requirements. Intravenous immunoglobulin infusions can be effective for both muscle and skin activity. Antimalarials, topical corticosteroid and topical tacrolimus are variably useful in the management of DM skin disease.
Mixed Connective Tissue Disease
Authors: Goodfield Mark 
Published: August 2023

AbstractMixed connective tissue disease (MCTD) refers to one of a number of conditions in which patients have symptoms or signs that suggest a number of different disease entities within the spectrum of the connective tissue diseases (CTDs). The original MCTD, Sharp syndrome, was associated with a specific autoantibody – anti‐U1‐RNP – occurring in a patient with elements of lupus erythematosus, systemic sclerosis and dermatomyositis, and was recognized as an identity in its own right. Subsequently, other combinations have been described, and may occur with other autoantibody profiles. These have been described as overlap syndromes, or as undifferentiated CTD, or as CTD in evolution because of the range of symptoms and signs and the sometimes changing nature of the condition. There is a tendency for the patient's condition to evolve in the direction of a single CTD over time, although many remain with overlapping features. The condition, however varied, is characterized by a generally good prognosis, and by a good response to therapy, although some patients may be severely affected, and may develop life‐threatening complications despite treatment.
Morphoea (Localized Scleroderma)
Authors: Orteu Catherine H. 
Published: August 2023

AbstractMorphoea encompasses a group of related conditions characterized by varying degrees of sclerosis, fibrosis and atrophy in the skin and subcutaneous tissues, sometimes extending deeply into the muscle, bone, eye and brain. Extracutaneous manifestations occur in up to 25% of cases but in contrast to systemic sclerosis (SSc), no internal organ fibrosis or vascular changes occur. Antinuclear antibody positivity is common but the specific autoantibodies seen in SSc are rarely present. There is no increased mortality, but substantial morbidity may occur as a result of joint contractures, facial and limb asymmetry, extracutaneous manifestations and the psychological impact of the condition. Although previously considered self‐limiting, there is now emerging evidence that a protracted, relapsing–remitting course may be common. The key to successful treatment is the involvement of a multidisciplinary team and the initiation of therapy during the active inflammatory stage, before significant damage has occurred. Topical and phototherapies are appropriate in superficial forms of morphoea, whilst a majority of linear, generalized and deep forms require systemic therapy.
Nutritional Disorders Affecting the Skin
Authors: Chu Derek H. , Jen Melinda V. , Yan Albert C. 
Published: August 2023

AbstractBalanced intake, absorption and utilization of macro‐ and micronutrients, including carbohydrates, protein, fat, vitamins and minerals, are necessary for the function of various physiological processes and metabolic reactions. Derangements in this critical balance may lead to disease states with significant cutaneous and systemic manifestations. This chapter provides a comprehensive overview of various essential nutrients and their associated biological significance, as well as the important clinical syndromes that result from their deficiency or excess.
Inherited Disorders of Cornification
Authors: Oji Vinzenz , Metze Dieter , Traupe Heiko 
Published: August 2023

AbstractThe majority of keratinization disorders are referred to as Mendelian disorders of cornification. This is a very broad group, clinically characterized by hyperkeratosis or visible scaling or both. This chapter deals with the ichthyoses, palmoplantar keratodermas (PPKs) and miscellaneous cornification disorders such as porokeratoses. It is aimed primarily at dermatologists and physician scientists who have to make a clinical diagnosis and provide adequate management for their patients. Therefore a nosology and classification scheme has been chosen that is based on clinicogenetic and morphological features. Clinical diagnoses are then discussed with their molecular pathology. Part of the chapter addresses the management of congenital ichthyoses. Various tables provide an overview on clinical and/or pathophysiologically related groups of diseases. Finally, several cornification disorders are discussed that do not have a genetic basis, but are acquired or are of unknown aetiology (e.g. acquired ichthyoses/PPKs or perforating keratotic disorders).
Inherited Acantholytic Disorders
Authors: Zamiri Mozheh , Munro Colin S. 
Published: August 2023

AbstractDarier disease (DD) and Hailey–Hailey disease (HHD) are autosomal dominant disorders characterized by epidermal acantholysis. They have a similar molecular pathogenesis, with mutations in the intracellular calcium pumps of the endoplasmic reticulum (SERCA2) and Golgi (SPCA1), respectively. DD presents with persistent, hyperkeratotic papules in a seborrhoeic distribution, associated with nail changes and palmar pitting. HHD presents with painful, mainly flexural, erosions. In both, secondary infection is common and hypertrophic flexural disease can be disabling. Histologically, both are characterized by loss of epidermal intercellular adhesion (acantholysis). In DD, acantholysis is predominantly suprabasal and there is overlying dyskeratosis. In HHD, acantholysis is more diffuse. First line topical treatment is with emollients, antimicrobials and corticosteroids. Oral antibiotics are often necessary for exacerbations; other systemic options include retinoids and ciclosporin. Physical measures such as laser resurfacing, photodynamic therapy, botulinum toxin and surgical interventions can be considered in refractory cases.
Genetic Blistering Diseases
Authors: McGrath John A. 
Published: August 2023

AbstractResilient in health, the structural integrity of skin can become impaired or break down in a collection of inherited skin diseases, referred to as the blistering genodermatoses. Most disorders are classified as a form of epidermolysis bullosa, although there is clinical and molecular heterogeneity. These conditions arise from gene mutations in a variety of structural and signalling proteins and manifest clinically as blisters or erosions following minor skin trauma, sometimes with extracutaneous manifestations including gastrointestinal, cardiac and ocular complications. In recent years, an improved understanding of the molecular basis of the blistering genodermatoses has led to better disease classification and advancement of translational research with the advent of new clinical trials of gene, protein, cell, drug and small molecule therapies.
Genetic Disorders of Collagen, Elastin and Dermal Matrix
Authors: Burrows Nigel 
Published: August 2023

AbstractThe inherited disorders of connective tissue are a heterogeneous group of conditions characterized by defects involving primarily one element of the connective tissue: collagen, elastic fibre or other extracellular matrix proteins. Multisystem involvement is common and can be fatal. There is variable skin involvement but recognition of characteristic skin findings may provide an early diagnosis and identify those at risk of internal complications. This chapter covers the inherited disorders of collagen and elastic fibres, infantile stiff skin and premature ageing syndromes, disorders of ectopic calcification and abnormal mineralization, as well as other syndromes related to abnormal connective tissue.
Congenital Naevi and Other Developmental Abnormalities Affecting the Skin
Authors: Kinsler Veronica A. , Sebire Neil J. 
Published: August 2023

AbstractThe understanding of congenital naevi has evolved rapidly in the last few years, with the discovery of many of the causative genes, and an increasing understanding of the phenotypic correlates of genotypic mosaicism in the skin. A new classification of all congenital naevi is proposed, based on phenotype, histology and genetics, which allows for the addition of new conditions as they are discovered, and for the regrouping of previously distinct disorders. The clinical features and extracutaneous associations of different congenital naevi are reviewed, as well as those of non‐naevoid developmental abnormalities of the skin.
Chromosomal Disorders
Authors: Irvine Alan D. , Mellerio Jemima E. 
Published: August 2023

AbstractChromosomal disorders may be due to abnormalities of chromosome number or structure and may involve autosomes or sex chromosomes. Somatic cells are diploid, with a complement of 46 chromosomes, whereas gametes (ova and sperm) are haploid, with only 23 chromosomes following reduction division in meiosis. Numerical abnormalities that involve the gain or loss of one or more chromosomes are known as aneuploidies. The traditional approach to studying chromosomal anomalies involved karyotype or fluorescentin situhybridization analysis. However, in recent years the development of array comparative genomic hybridization (or microarray) has been developed and is becoming the primary genetic tool in examining chromosomes for abnormalities of chromosome number (aneuploidy) and structure (deletions/duplications/inversions). This chapter reviews the common chromosomal abnormalities including Down syndrome and Turner syndrome, and their dermatological manifestations.