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[Hereditary progressive mucinous histiocytosis].

N Antoni-Bach1, R Pfister, E Grosshans

  • 1Service de Dermatologie, Hôpital Pasteur, 68024 Colmar Cedex, France.

Annales De Dermatologie Et De Venereologie
|June 14, 2000
PubMed
Summary

Hereditary progressive mucinous histiocytosis, a rare skin condition, presents as papules and mucin deposits. Genetic analysis suggests a possible X-linked or autosomal dominant inheritance pattern, predominantly affecting females.

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Area of Science:

  • Dermatology
  • Genetics
  • Histopathology

Background:

  • Hereditary progressive mucinous histiocytosis (HPMH) is a rare, non-Langerhans histiocytosis affecting only women, characterized by distinct skin lesions.
  • Its clinical, histological, and genetic profiles differentiate it from other histiocytoses and overload disorders.

Observation:

  • A 49-year-old woman presented with asymptomatic, progressively spreading papules on her hands since childhood.
  • Family history revealed affected mother and sisters, but no male relatives, suggesting a hereditary component.
  • Histological examination showed dermal infiltration, mucin overload, and characteristic histiocytes with specific cytoplasmic inclusions.

Findings:

  • The case presented aligns with the diagnostic criteria for HPMH.

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  • Pedigree analysis supports a dominant hereditary transmission, with a notable absence of affected males.
  • Electron microscopy revealed features suggestive of a phospholipid deposit disorder or primary macrophage proliferation.

    • Implications:

    • This report details the first observed case of HPMH in France.
    • The findings contribute to understanding the potential genetic transmission (X-linked or autosomal dominant) and pathogenesis of HPMH.
    • Further research is needed to elucidate the exact inheritance pattern and underlying mechanisms, potentially involving mitochondrial or hormonal factors.