Piecing together the puzzle of cutaneous mosaicism.
Autosomal dominant disorders of the skin may present in a pattern following the lines of embryologic development of the ectoderm. In these cases, the surrounding skin is normal, and molecular studies have shown that the causative mutation is confined to the affected ectodermal tissue (type 1 mosaicism). Rarely, an individual shows skin lesions that follow the pattern of type 1 mosaicism, but the rest of the skin shows a milder form of the disorder (type 2 mosaicism). A new study provides the molecular basis for type 2 mosaicism.
Paller
Amy S
AS
Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois, USA. apaller@northwestern.edu
D019521:Body Patterning / Q000235:genetics; D000252:Calcium-Transporting ATPases / Q000235:genetics; D025063:Chromosome Disorders; D004475:Ectoderm / Q000473:pathology; D005489:Focal Dermal Hypoplasia / Q000235:genetics / Q000473:pathology; D018628:Gene Dosage; D005799:Genes, Dominant; D018095:Germ-Line Mutation; D006579:Heterozygote; D006801:Humans; D015603:Keratinocytes / Q000473:pathology; D008957:Models, Genetic; D009030:Mosaicism / Q000145:classification* / Q000196:embryology*; D020125:Mutation, Missense; D016506:Pemphigus, Benign Familial / Q000235:genetics / Q000473:pathology; D012594:Scleroderma, Localized / Q000235:genetics / Q000473:pathology; D012873:Skin Diseases, Genetic / Q000145:classification* / Q000196:embryology / Q000235:genetics* / Q000473:pathology*
D000252:Calcium-Transporting ATPases