title: Progressive hyperpigmentation and generalized lentiginosis without associated systemic symptoms: a rare hereditary pigmentation disorder in south-east Germany.
abstract: Familial progressive hyperpigmentation is rarely described in the literature. We report on five patients from three different families presenting with a peculiar progressive pigmentary disorder. The patients show a progressive diffuse, partly blotchy, hyperpigmentation, intermixed with scattered small hypopigmented macules, a few large hypopigmented areas, occasional café-au-lait spots and, most remarkably, a generalized lentiginosis. Histology revealed different degrees of basal layer hyperpigmentation and pigment incontinence, also in the spots appearing hypopigmented. Ultrastructural analysis showed a normal mode of Caucasian-like melanogenesis with varying content of regular melanosome complexes within the keratinocytes. All families are clustered in a small area around the town of Teublitz in south-east Germany with about 20,000 inhabitants, suggesting a genetic founder effect. Pedigree analysis is compatible with an autosomal dominant mode of inheritance with variable penetrance. Only a few similar, but not identical, cases have been reported in the past. This cluster of cases may therefore represent a rare and perhaps novel variant of a familial progressive disorder of hyperpigmentation.
authors.affiliation: Department of Dermatology, University of Regensburg, Germany.
authors.forename: Livia
authors.initials: L
authors.lastname: Zanardo
authors.forename: Wilhelm
authors.initials: W
authors.lastname: Stolz
authors.forename: Gerd
authors.initials: G
authors.lastname: Schmitz
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Kaminski
authors.forename: Miikka
authors.initials: M
authors.lastname: Vikkula
authors.forename: Michael
authors.initials: M
authors.lastname: Landthaler
authors.forename: Thomas
authors.initials: T
authors.lastname: Vogt
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D016000:Cluster Analysis; D018450:Disease Progression; D005260:Female; D018703:Founder Effect; D005858:Germany / Q000453:epidemiology; D006801:Humans; D017495:Hyperpigmentation / Q000150:complications* / Q000473:pathology; D007223:Infant; D007911:Lentigo / Q000150:complications* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010859:Pigmentation Disorders / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D035583:Rare Diseases; D012867:Skin / Q000648:ultrastructure