Content » Vol 84, Issue 1

Clinical Report

Progressive Hyperpigmentation and Generalized Lentiginosis without Associated Systemic Symptoms: a Rare Hereditary Pigmentation Disorder in South-East Germany

Livia Zanardo, Wilhelm Stolz, Gerd Schmitz, Wolfgang Kaminski, Miikka Vikkula, Michael Landthaler, Thomas Vogt
DOI: 10.1080/00015550310005780


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.


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