Progressive hyperpigmentation and generalized lentiginosis without associated systemic symptoms: a rare hereditary pigmentation disorder in south-east Germany

Acta Derm Venereol. 2004;84(1):57-60. 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.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Cluster Analysis
  • Disease Progression
  • Female
  • Founder Effect
  • Germany / epidemiology
  • Humans
  • Hyperpigmentation / complications*
  • Hyperpigmentation / pathology
  • Infant
  • Lentigo / complications*
  • Lentigo / pathology
  • Male
  • Middle Aged
  • Pedigree
  • Pigmentation Disorders / epidemiology
  • Pigmentation Disorders / genetics*
  • Pigmentation Disorders / pathology
  • Rare Diseases
  • Skin / ultrastructure