A sporadic case of progressive mucinous histiocytosis

Abstract

Hereditary progressive mucinous histiocytosis is a rare autosomal dominant non-Langerhans cell histiocytosis. We describe a sporadic case of this syndrome in a 64-year-old woman who had multiple dark-red dome-shaped papulonodules located mainly on the back of her hands, forearms and thighs. Light microscopy revealed a circumscribed upper dermal aggregate of ovoid or spindle-shaped histiocytes with abundant mucin deposition. Iron deposits and numerous mast cells were scattered throughout the tumour but giant cells were rare. Electron microscopy revealed a high number of zebra bodies and myeloid bodies in the cytoplasm of the histiocytes. Immunohistochemistry showed positive labelling with alpha-1 antitrypsin, Factor XIIIa and CD68, while CD1a, CD34 and S100 protein were negative. The differential diagnosis of histiocytic syndromes is discussed.

Unusual variants of non-Langerhans cell histiocytoses

“…Staining with toluidine blue reveals a marked metachromasia of the histiocytic cells. In accordance with some authors, 53 immunohistochemical studies performed by us showed positive labeling of the histiocytic cells with KP1 (CD68), and factor XIIIa, but S-100 protein and CD1a were negative. In contrast, other investigators 50 found that the histiocytes were negative for both KP1 (CD68) and factor XIII.…”

“…The disease is very rare and affects almost exclusively women; only 11 patients from 6 different families, [46][47][48][49][50][51] in addition to two sporadic cases, 52,53 have been reported. Indeed, we observed a male patient and his daughter both affected by HPMH (unpublished data).…”

“…Typical pleomorphic granules, as described by one of us, 33 wormlike bodies, or Birbeck granules are absent. [46][47][48][49][50][51][52][53] Course and prognosis…”

Two sporadic cases of adult‐onset progressive mucinous histiocytosis

“…No association with paraproteinaemia has been observed. Ten cases – all women – in four families and one sporadic case have been described in the literature 1–6 . An autosomal dominant pattern of inheritance has been suggested.…”

“…Progressive mucinous histiocytosis is a rare, benign, non‐Langerhans' cell histiocytosis limited to the skin. Ten cases – all women – in four families and one sporadic case have been described in the literature 1–6 . The disorder, characterized by few to numerous flesh‐coloured to red‐brown asymptomatic papules on the face, the hands, the arms and the legs, usually begins in childhood 1–6 .…”