Histiocytose mucineuse progressive sporadique

Seventeen hereditary cases in seven families, all of which concerned women except for three males, and five sporadic cases have been described to date. The clinical and histological presentation is typical. Histopathology shows dermal accumulation of histiocytes with abundant mucin deposition. The ultrastructural aspect (intracytoplasmic phospholipid deposits) and progressive extension suggest a disorder similar to that observed in lysosomal diseases. However, primary proliferation of macrophages in response to an unknown stimulus cannot be ruled out. At present, there is no treatment.