bluuebunny/crossref_metadata_2025_split huggingface dataset:
Recurrent Angio‐Oedema without Weals
Authors: Grattan Clive E. H. , Maurer Marcus 
Published: August 2023

Abstract

Angioedema without weals may be either hereditary or acquired. Hereditary angioedema (HAE) is mediated by bradykinin and requires completely different assessment and treatment to acquired mast cell mediator‐induced angioedema. It is inherited as an autosomal dominant disorder. Types I and II are due to mutations in
SERPING1
, resulting in deficient or non‐functional C1‐esterase inhibitor (C1INH), respectively. HAE with normal C1INH (type III HAE) is associated with gain‐of‐function mutations in
F12
in about 20% of patients; no genetic mutation has been identified in the other patients and C1INH is normal. About 10% of patients with chronic spontaneous urticaria will present with mast cell mediator‐induced angioedema without weals, thus it is much commoner than HAE. The assessment and treatment is similar to that for patients with urticaria with weals. Acquired angioedema is mediated by bradykinin when it is due to angiotensin‐converting enzyme inhibitors or C1INH deficiency resulting from consumption of C1INH or its inactivation by autoantibodies. Acquired bradykinin‐mediated idiopathic angioedema, a rare condition, appears to be non‐mast cell mediator induced in a few patients. The entity is poorly defined as there is no diagnostic test but these patients may respond to tranexamic acid.
Immunobullous Diseases
Authors: Schmidt Enno , Groves Richard 
Published: August 2023

AbstractThe immunobullous disorders represent a group of conditions characterized by an antibody‐mediated autoimmune response against structural elements of the skin resulting in blistering of the skin and mucosae. Antibody targets include proteins in hemidesmosomes and the basement membrane zone (pemphigoid group), anchoring fibrils in the papillary dermis (epidermolysis bullosa acquisita), desmosomes (pemphigus group) and epidermal transglutaminase (dermatitis herpetiformis). If left untreated, immunobullous disorders may be associated with significant morbidity and mortality so prompt, accurate diagnosis and treatment are mandatory. Therapeutic options include systemic corticosteroid therapy, steroid‐sparing immunosuppressants (e.g. azathioprine and mycophenolates) and immunomodulating agents (e.g. dapsone and tetracyclines). In severe and/or refractory patients, intravenous immunoglobulin, immunoadsorption and the anti‐B‐cell drug rituximab are applied.
Lupus Erythematosus
Authors: Goodfield Mark , Dutz Jan , McCourt Collette 
Published: August 2023

AbstractLupus erythematosus (LE) is a complex spectrum of disease, involving one or multiple organ systems, and characterized by humoral and cellular autoimmunity, resulting in combinations of skin, joint, vascular and internal organ involvement. Skin disease occurs in the overwhelming majority of patients, and the patterns of skin involvement form an important part of subclassification, with localized discoid lupus usually being a single‐system manifestation, and acute cutaneous LE part of a potentially fatal multisystem disease. Intermediate forms, including subacute cutaneous LE are common and variable in their involvement of other organ systems. Ultraviolet exposure is an important disease precipitant. LE forms a major part of the group of disorders called connective tissue diseases, along with systemic sclerosis, localized and generalized morphoea, dermatomyositis, rheumatoid arthritis and Sjögren syndrome on the basis of clinical, pathological and immunological overlap.
Dermatological Manifestations of Rheumatoid Disease
Authors: Goodfield Mark 
Published: August 2023

AbstractWhilst there are a number of specific connective tissue disorders with well‐recognized and diagnostic cutaneous features, there are other disorders with rheumatological features in which skin problems occur as part of the condition, but which are not necessarily diagnostic for the disease. These are sometimes less well described than those classic features of, for example, lupus erythematosus. Such conditions include rheumatoid arthritis and Sjögren yndrome, but also Still disease and rheumatic fever. The skin conditions seen in these diseases may involve the skin primarily, or the vasculature, but often present to dermatologists for diagnosis, usually in a patient known to have an underlying disease.
Cutaneous Amyloidoses
Authors: Schreml Stephan 
Published: August 2023

AbstractAmyloids are common protein aggregates in nature. Some amyloids fulfil important biological tasks while others are known to cause diseases. Despite the fact that the ultrastructure of amyloid is highly conserved, the mechanism of amyloidogenesis remains a challenging research topic. In humans, amyloidoses can develop primarily in the skin, or systemic amyloidoses can lead to secondary cutaneous involvement. An accurate diagnostic procedure is crucial for planning therapy in this heterogeneous group of diseases. This chapter gives an overview of the different kinds of cutaneous amyloidoses as well as on diagnostic and therapeutic approaches. Furthermore, the contrast between functional and disease‐causing amyloid is discussed.
Cutaneous Porphyrias
Authors: Sarkany Robert P. E. 
Published: August 2023

AbstractThe porphyrias are a group of disorders caused by defects in the biosynthesis of haem. Their relevance to the skin arises from the phototoxic properties of the porphyrins, which accumulate in most porphyrias and cause photosensitivity. The majority of the porphyrias are inherited. Many of them affect other organs as well as the skin. The recognition and management of both the genetic and internal consequences of porphyrias presenting in the skin are a key challenge for the dermatologist. Clinical management in these disorders is made easier when the clinician understands their theoretical basis. Thus, this section is divided into two halves. The first provides a theoretical basis for understanding the porphyrias, the general principles of clinical management and a clinician's guide to laboratory testing. The second half covers individual porphyries in detail.
Calcification of the Skin and Subcutaneous Tissue
Authors: Bourke Johnny 
Published: August 2023

AbstractCalcification occurs in the skin and subcutaneous tissues either as a consequence of the alteration of systemic calcium homeostasis or as a local side effect of inflammation, infection, trauma or neoplastic disease. In its most benign form, calcification is noticed as an incidental finding on histopathlogical analysis. The more severe forms, seen in scleroderma, dermatomyositis and calciphylaxis, lead to significant morbidity and mortality. The different forms of calcification are usually recognizable on clinical assessment. Further investigation, where clinically indicated, include biopsy, biochemistry and autoimmune serology. Excision is the most effective treatment for localized disease. Many different modalities are proposed for extensive disease and are often disappointing.
Skin Disorders in Diabetes Mellitus
Authors: Bourke Johnny 
Published: August 2023

AbstractMany disorders are associated with diabetes, either directly or indirectly. Vascular damage, caused by an accumulation of advanced glycation end‐products, leads to leg ulceration, diabetic dermopathy and rubeosis. Neurological damage, due to damaged endoneurial microvessels, leads to the diabetic foot and foot ulcers. Bacterial and fungal infections are more common in diabetes. Obesity, insulin resistance and hyperlipidaemia lead to skin tags, acanthosis nigricans and eruptive xanthomas. A number of autoimmune and genetic disorders are more common in those with diabetes or predispose to diabetes, including thyroid disease, vitiligo, Cushing syndrome and autoimmune polyendocrine syndrome. In addition, a number of disorders of uncertain pathophysiology are linked to diabetes including necrobiosis lipoidica, cheiroarthropathy, scleredema diabeticorum and diabetic bullae.
Ectodermal Dysplasias
Authors: Itin Peter 
Published: August 2023

AbstractEctodermal dysplasias, a large group of heterogeneous heritable conditions, are characterized by congenital defects in two or more ectodermal structures, involving at least one in the hair (trichodysplasia), teeth (dental defects), nails (onychodysplasia) or sweat glands (hypohidrosis). Of the approximately 220 different ectodermal dysplasias, about 80 have been identified at the molecular level with the identification of the causative genes. Recent evidence implicates genetic defects in different key pathways orchestrating ectodermal organogenesis.
Genetic Defects of Nails and Nail Growth
Authors: Rubin Adam , Paller Amy S. 
Published: August 2023

AbstractHundreds of genodermatoses show changes of the nails, most commonly among the ectodermal dysplasias. Among the more common nail disorders are: (i) pachyonychia congenita, a group of disorders caused by mutations in one of five keratin genes expressed in the nail matrix, which also features painful plantar keratoderma; (ii) dyskeratosis congenita, characterized by telomerase shortening leading to nail dystrophy, oral leukoplakia and poikiloderma with a high risk of bone marrow failure; (iii) nail–patella syndrome resulting from mutations in the LIMX1b transcription factor that disrupt the development of the nails, patella, elbow, pelvis and kidneys; and (iv) hereditary anonychia, due to mutations inR‐spondin 4.
Genetic Disorders of Adipose Tissue
Authors: Millington George W. M. 
Published: August 2023

AbstractSubcutaneous fat consists of two main groups of cells, white adipose tissue (WAT) and brown adipose tissue, as well as capillaries, which facilitate its metabolic functions. In adults, it comprises almost entirely WAT, where its functions include insulation, energy storage and a recently recognized complex endocrine role. Excess energy is stored in WAT, which leads to obesity. Brown fat is most detectable in the neonate and its function appears to be quite different from that of WAT, particularly being involved in thermogenesis. Its role in the older child and adult is less clear. Disorders of adipose tissue can be divided principally into: disorders of distribution of fat, the lipodystrophies, lipoedema and fibroadipose hyperplasia, disorders of excessive generalized accumulation of fat (in other words obesity), tumours and inflammation (such as panniculitis). There is increasing evidence of a hereditary component in the pathogenesis of all of these conditions.
DNA
Repair Disorders with Cutaneous Features
Authors: Fassihi Hiva 
Published: August 2023

Abstract
The human genome is continually being damaged by a variety of sources (such as reactive oxygen species and ultraviolet and ionizing radiation). Cells have evolved a number of complex pathways (nucleotide excision repair, double strand break repair and mismatch repair) to recognize and repair this damage in actively transcribed genes. Defects in these pathways result in a number of disorders, many with skin involvement, commonly photosensitivity, cancer and premature ageing. Xeroderma pigmentosum (XP), Cockayne syndrome and trichothiodystrophy are caused by defects in the nucleotide excision repair. All three syndromes can show photosensitivity because of an inability to repair UV radiation‐induced DNA damage. However, they are clinically very heterogeneous and only patients with XP have an increased risk of skin cancer. Early accurate diagnosis, based on clinical features, assessment of DNA repair and genetic analysis, can significantly improve morbidity and mortality from skin cancers, and also enables appropriate genetic counselling and prenatal diagnosis.
Inherited Metabolic Diseases
Authors: Morris Andrew 
Published: August 2023

AbstractMany inherited metabolic diseases have dermatological features. Characteristic findings include angiokeratomas, which are associated with several lysosomal storage disorders. Xanthomas occur in hyperlipidaemias, cerebrotendinous xanthomatosis, Niemann–Pick disease and glycogen storage disease type 1. Ichthiosis is found in steroid sulphatase deficiency, Sjögren–Larsson syndrome, Chanarin–Dorfman syndrome, Refsum disease, defects of cholesterol synthesis and some congenital disorders of glycosylation (CDGs). Cutis laxa is typical of other CDGs and Menkes disease. Photosensitivity occurs in the porphyrias, Hartnup disease and Smith–Lemli–Opitz syndrome. Hair abnormalities include alopecia (in biotinidase deficiency), hypertrichosis (in the mucopolysaccharidoses), trichorrhexis nodosa (in argininosuccinic aciduria) and pili torti (in Menkes disease).
Inherited Immunodeficiency
Authors: Niehues Tim , Gennery Andrew R. 
Published: August 2023

Abstract
Primary immunodeficiencies (PIDs) are inherited disorders resulting in defects in the immune system leading to increased susceptibility to infection, autoimmune diseases, autoinflammation and failure of the inflammatory response and/or lymphocyte apoptosis as well as an increased susceptibility to neoplasia. Commonly, PIDs present with cutaneous infections or non‐infectious skin manifestations – some are mainly characterized by their dermatological presentation. PIDs are classified as combined immunodeficiencies with or without associated or syndromic features, predominantly antibody deficiencies, diseases with immune dysregulation, congenital defects of phagocyte number and function, defects in innate immunity, or autoinflammatory or complement disorders. The most prevalent of these primary immunodeficiencies are discussed.
Pruritus, Prurigo and Lichen Simplex
Authors: Ständer Sonja , Greaves Malcolm 
Published: August 2023

AbstractChronic pruritus (of more than 6 weeks duration) is one of the most frequent and burdensome of symptoms, occurring not only in association with a variety of dermatoses but also in other medical specialities, such as neurology, gynaecology and psychiatry. Prurigo nodularis and lichen simplex are characterized by a vicious circle of repeated scratching and pruritus, and represent cutaneous reaction patterns with a high negative impact on patients' quality of life. During the past two decades, new insights have been gained on specific neurons, receptors and mediators that are exclusively involved in the mediation of pruritus and not of pain. Diagnostic work‐up of chronic pruritus, prurigo nodularis and lichen simplex is challenging and time‐consuming, and management of the conditions remains difficult and unsatisfactory. The mainstays of treatment to date are antihistamines, anticonvulsants and certain antidepressants. Better understanding of the underlying pathophysiology of pruritus has enabled novel treatment approaches that target the pruritus‐specific mechanisms. Current knowledge on treatment is summarized for the first time in the European Guideline on Chronic Pruritis.
Mucocutaneous Pain Syndromes
Authors: Zakrzewska Joanna M. , Bewley Anthony 
Published: August 2023

AbstractThe mucocutaneous pain syndromes (MCPs) typically involve the head, neck and mouth. Genital dysaesthetic syndromes (vulvodynia, vestibulodynia, penoscrotodynia) are also common and are discussed in this chapter, as well as in specific genital chapters. For many MCPs no organic cause for their disease can be identified (with the exception of post‐herpetic neuralgia and trigeminal trophic syndrome), and the causes are thought to be related to the complex physiological interaction between the cranial and peripheral nervous systems and the brain itself. It is therefore essential that organic differential diagnoses for MCPs are excluded before a firm diagnosis is established. The management of patients with these diseases is often complex. There is a growing body of evidence that these patients are best managed in specialist, multidisciplinary clinics.
Acquired Pigmentary Disorders
Authors: van Geel Nanja , Speeckaert Reinhart 
Published: August 2023

AbstractAbnormal skin pigmentation represents a common skin problem which may be congenitally determined or acquired during life. The former are discussed in Chapter [70]. Acquired pigmentary disorders encompass a broad range of diseases resulting not only in abnormal melanin pigmentation of the skin but also in skin colour change produced by a variety of other endogenous and exogenous pigments. The first part of this chapter examines the melanocyte and normal melanogenesis. The second part discusses not only acquired abnormalities of skin pigmentation resulting from disturbances in melanin pigmentation but also those disorders due to other endogenous or exogenous pigments. The third part describes acquired hypomelanosis including disorders with reduced pigmentation (hypopigmentation) and total absence of pigmentation (depigmentation). In the final part, non‐melanin pigmentation of the skin is examined.
Acne
Authors: Layton Alison M. , Eady E. Anne , Zouboulis Christos C. 
Published: August 2023

AbstractAcne represents the commonest inflammatory dermatosis seen worldwide and is the leading reason for seeing a dermatologist; a number of acne variants are described. In children, these include neonatal, infantile, mid‐childhood and prepubertal acne. Acne fulminans and acne conglobata represent severe but rare forms. Predisposing factors may be implicated in acneform dermatoses; these include medications, occupational and environmental triggers, cosmetics, systemic diseases and syndromes. This chapter describes all clinical variants and provides evidence‐based or expert opinion on management.
Disorders of the Sweat Glands
Authors: Coulson Ian H. , Wilson Niall J. E. 
Published: August 2023

Abstract
In this chapter the anatomy, physiology and diseases of eccrine and apocrine sweat glands are described. The clinical patterns, causes and associations of excessive sweating as well as those of reduced or absent sweating are addressed in detail. Guidance is given on the management of hyperhidrosis and on the choice of appropriate therapy, including topical and systemic agents and surgery. The presentation and management of occlusive and inflammatory disorders of eccrine sweat glands is covered fully, as are the clinical features and management of abnormal sweat odour and colour and of apocrine miliaria. Brief reference is made to conditions associated with sweat gland inclusions.
Dermatoses of the External Ear
Authors: Kennedy Cameron 
Published: August 2023

AbstractThe complex embryological origin of the external ear explains developmental anomalies and some hearing abnormalities. The structure of the pinna, a cartilaginous framework beneath thin skin, contributes to some of these conditions, such as chondrodermatitis nodularis and pseudocyst of the auricle. Ear piercing has complications that present to the dermatologist. External otitis, particularly when chronic, is often multifactorial, reflecting the special environment of the skin of the ear canal. The pinna is sometimes the site of predilection for systemic diseases, such as alcaptonuria, leprosy and relapsing polychondritis. The pinna is a sun‐exposed site where squamous carcinoma is often more aggressive than when it arises at sites nearby.
Dermatoses of the Eye, Eyelids and Eyebrows
Authors: Saw Valerie P. J. , Leonard Jonathan N. 
Published: August 2023

AbstractWhen managing patients with skin disease it is important not to overlook associated ocular conditions or side effects of dermatological therapies, which may result in blindness or permanent sight impairment if not managed promptly and appropriately. This chapter focuses on conditions that commonly occur in clinical practice and that present a management problem, including rosacea/blepharitis, allergic eye disease, cicatrizing conjunctivitis, infections and eyelid tumours. Conditions that could threaten visual acuity and require urgent referral to an ophthalmologist are highlighted. Finally, systemic diseases affecting both the skin and eyes, in which ophthalmic assessment can help to make the diagnosis, are outlined.
Dermatoses of Pregnancy
Authors: Jones Samantha Vaughan 
Published: August 2023

Abstract
The specific dermatoses of pregnancy, which have been renamed and reclassified several times, represent a heterogenous group of pruritic skin diseases presenting in pregnancy. They comprise the following: pemphigoid gestationis, polymorphic eruption of pregnancy, atopic eruption of pregnancy and intrahepatic cholestasis of pregnancy. There are also a number of other skin diseases that can be influenced by pregnancy (infections, inflammatory skin diseases, skin tumours) and a number of physiological skin changes that occur in pregnancy. This chapter will discuss the presentation and management of common skin diseases in pregnancy with potential implications for both mother and child.
Dermatoses Induced by Illicit Drugs
Authors: Creamer Daniel , Gossop Michael 
Published: August 2023

Abstract
Illicit drugs are readily available and are used relatively commonly. Since illicit substances may adversely affect many organ systems, drug taking causes a range of health problems and physicians in all specialties, including dermatologists, can expect to see patients who use illegal drugs. Damage to health may be caused both directly by the drugs and indirectly by associated drug‐taking behaviours.
Dermatological Manifestations of Metal Poisoning
Authors: Nambi Rabindranath 
Published: August 2023

AbstractSkin manifestations from poisoning by metals and metalloids are varied. The spectrum of metallodermatoses includes pigmentary changes, inflammatory dermatoses, urticarial eruptions, pre‐cancers, malignancies and anaphylaxis. The toxic effects of metal poisoning are often unrecognized and delayed diagnosis is common. The metals and metalloids discussed in this chapter include antimony, arsenic, gold, lead, mercury, selenium, silver, thallium, beryllium, molybdenum and platinum.
Mechanical Injury to the Skin
Authors: Bashir Saqib J. , Chew Ai‐Lean 
Published: August 2023

AbstractHealthy skin is able to withstand the effects of a variety of mechanical forces, such as friction, pressure, contusion and vibration. However, when the force is of sufficient intensity or duration, mechanical injury may occur. Phenomena such as the isomorphic (Koebner) response and Nikolsky sign are of interest to dermatologists when considering the underlying pathology. Other conditions are important to recognize, as they may potentially be confused with skin cancers (black heel, spectacle frame acanthoma) or important dermatological diseases (foreign body reaction, friction blisters, sclerodermiform reaction, semicircular lipoatrophy). Mechanical insult to the skin may reflect an occupational hazard, such as the diverse skin reactions to musical instruments, traumatic effects of sports, hypothenar hammer syndrome and hand–arm vibration syndrome. The diverse presentations of cutaneous mechanical injury are discussed in this chapter.
Cutaneous Reactions to Cold and Heat
Authors: Bashir Saqib J. , Chew Ai‐Lean 
Published: August 2023

AbstractHuman exposure to cold and warm environments has occurred throughout millennia. Human skin responds physiologically to environmental temperature; however, pathological responses may occur to extremes of temperature in those who have an underlying predisposition. This chapter details the pathophysiological responses to cold and heat, the resultant disease processes and the treatment plans used to manage patients injured by cold or heat.