Darier Disease Synonyms ▪ Darier–White disease ▪ Keratosis follicularis ▪ Dyskeratosis follicularis Key features ▪ Autosomal dominant disorder in which mutations in the ATP2A2 gene result in dysfunction of an endoplasmic reticulum Ca 2+ ATPase (SERCA2), thus interfering with intracellular…
Key features ▪ Palmoplantar keratodermas can be inherited or acquired ▪ The three major patterns of involvement are diffuse, focal, and punctate ▪ The clinical presentation may be different on the hands and feet, e.g. diffuse on the soles and…
Key features ▪ Ichthyoses and erythrokeratodermas are heterogeneous groups of disorders of cornification ▪ Ichthyoses are characterized by scaling of the skin in a widespread distribution ▪ Erythrokeratodermas feature discrete areas of erythema and hyperkeratosis, usually without substantial scale ▪…
Key features ▪ The epidermis functions as a barrier that provides protection against harmful substances and water loss ▪ Through a complex terminal differentiation program, the progeny of epidermal stem cells undergo molecular and biochemical changes that generate the morphologically…
Key features ▪ Advances in molecular technology have led to elucidation of the genetic bases of many single-gene inherited and mosaic skin disorders, greatly improving our understanding of these conditions ▪ McKusick's Online Mendelian Inheritance in Man (OMIM) database provides…
Introduction The completion of the human genome sequence, with an estimated size of 3.2 gigabases (Gb) and containing ~20 000–25 000 genes , represents a powerful tool in medicine that facilitates the identification of disease-associated genes. Detailed information on human sequence variation…
Key features ▪ Because of the frequency of skin involvement in systemic diseases, cutaneous manifestations often prove helpful in establishing the correct diagnosis ▪ Skin signs of systemic disease can be specific, e.g. cutaneous lupus, cutaneous sarcoidosis, in part because…
Key features ▪ Currently, over 25 000 allogeneic hematopoietic stem cell transplants (HSCTs) are performed worldwide each year ▪ Trends in the use of unrelated donors, non-myeloablative conditioning protocols, and donor lymphocyte infusions are impacting the incidence and presentation of graft-versus-host…
Key features ■ Nutritional deficiencies may affect any organ system, including the skin, which may provide clues to the diagnosis ■ The two classic protein–energy malnutrition syndromes are kwashiorkor and marasmus ■ In addition to inadequate oral intake, there are…
Synonyms ▪ Calcinosis cutis: cutaneous calcification ▪ Osteoma cutis: cutaneous ossification ▪ Calciphylaxis: calcific uremic arteriolopathy; calcifying panniculitis; uremic gangrene syndrome ▪ Subepidermal calcified nodule: solitary congenital nodular calcification; Winer's nodular calcinosis Key features ▪ Calcium regulates several key physiologic…