Zanardo, Livia and Stolz, Wilhelm and Schmitz, Gerd and Kaminski, Wolfgang and Vikkula, Miikka and Landthaler, Michael and Vogt, Thomas (2004) Progressive hyperpigmentation and generalized lentiginosis without associated systemic symptoms: a rare hereditary pigmentation disorder in south-east Germany. ACTA DERMATO-VENEREOLOGICA, 84 (1). pp. 57-60. ISSN 0001-5555, 1651-2057
Full text not available from this repository. (Request a copy)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 cafe-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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | DYSCHROMATOSIS; lentiginosis; progressive hyperpigmentation |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Dermatologie und Venerologie Medicine > Lehrstuhl für Klinische Chemie und Laboratoriumsmedizin |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 02 Aug 2021 11:32 |
| Last Modified: | 02 Aug 2021 11:32 |
| URI: | https://pred.uni-regensburg.de/id/eprint/38090 |
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