title: Generalized mottled pigmentation with postnatal skin blistering in three generations.
abstract: We describe three generations of a family expressing progressive mottled hypopigmentation and hyperpigmentation on the non-exposed parts of the body from childhood to adult life. At birth, they all had epidermal blistering of the distal extremities. Although the palmoplantar warty keratoses could be related to the bulla formation, the pigmentary changes could not. Otherwise, there were no systemic disorders. Genetic diseases with spotty epidermal hypopigmentation and hyperpigmentation form a long list and the diagnosis is not always easy. Although different diagnostically, the condition resembled an entity described by Siemens in 1922 and epidermolysis bullosa with mottled pigmentation. Molecular biological investigation would be required to characterize the phenotype of this entity, which apparently was a mutation occurring in one family for three generations.
authors.affiliation: Netherlands Institute for Pigment Disorders, IWO Building, Academic Medical Center, Meibergdreef 35, 1105 AZ Amsterdam Zuidoost, The Netherlands. w.westerhof@amc.uva.nl
authors.forename: Wiete
authors.initials: W
authors.lastname: Westerhof
authors.forename: Koert P
authors.initials: KP
authors.lastname: Dingemans
mesh_terms: D000328:Adult; D000368:Aged; D001768:Blister / Q000235:genetics* / Q000473:pathology; D002648:Child; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010859:Pigmentation Disorders / Q000235:genetics*; D012867:Skin / Q000648:ultrastructure