Hereditary progressive mucinous histiocytosis

MedGen UID:: 326771
•Concept ID:: C1840586
•: Disease or Syndrome

Synonym:	Histiocytosis, progressive mucinous
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0007725
OMIM®:	142630
Orphanet:	ORPHA158025

Definition

Hereditary progressive mucinous histiocytosis is a rare, benign, non-Langerhans cell histiocytosis characterized by childhood or adolescence onset of multiple, small, asymptomatic, slowly progressing, skin-colored to red-brown papules with predilection for the face, dorsal hands, forearms and legs, without associated mucosal or visceral involvement. Histologically, papules are well-circumscribed, unencapsulated, nodular aggregates of histiocytes with abundant mucin in the upper and middermis. [from ORDO]

Clinical features

From HPO

Neoplasm of the skin

MedGen UID:: 19993
•Concept ID:: C0037286
•: Neoplastic Process

A tumor (abnormal growth of tissue) of the skin.

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Mucinous histiocytosis

MedGen UID:: 569560
•Concept ID:: C0334126
•: Disease or Syndrome

Multiple subcutaneous non-fragile and skin-coloured papules characterized by interstitial infiltrate of spindle and epithelioid histiocytes, and mucin. There are well circumscribed aggregates of epithelioid histiocytes and mucin in the upper and middle dermis,with the histiocytes arranged between collagen bundles and separated from the epidermis by a Grenz zone.

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Abnormality of the immune system
- Mucinous histiocytosis
Neoplasm
- Neoplasm of the skin

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHereditary progressive mucinous histiocytosis

Abnormal cellular immune system morphology
- Abnormal leukocyte morphology
  - Abnormal myeloid leukocyte morphology
    - Abnormal macrophage morphology
      - Histiocytosis
        Non-Langerhans cell histiocytosis
        Hereditary progressive mucinous histiocytosis

Follow this link to review classifications for Hereditary progressive mucinous histiocytosis in Orphanet.

Recent clinical studies

Diagnosis

Hereditary progressive mucinous histiocytosis: 3 different phenotypes in 3 family members.

Requena C, Requena L, Traves V, Sanmartín O
J Cutan Pathol 2017 Sep;44(9):781-785. Epub 2017 Jun 19 doi: 10.1111/cup.12970. PMID: 28556021

Hereditary Progressive Mucinous Histiocytosis: New Insights Into a Rare Disease.

Nguyen NV, Prok L, Burgos A, Bruckner AL
Pediatr Dermatol 2015 Nov-Dec;32(6):e273-6. Epub 2015 Oct 13 doi: 10.1111/pde.12694. PMID: 26461050

A sporadic case of progressive mucinous histiocytosis.

Sass U, André J, Song M
Br J Dermatol 2000 Jan;142(1):133-7. doi: 10.1046/j.1365-2133.2000.03255.x. PMID: 10651709

See all (3)

Therapy

Progressive mucinous histiocytosis treated successfully with thalidomide: a rare case report.

Diab R, Shahidi Dadras M, Rakhshan A, Kaddah A, Abdollahimajd F
J Dermatolog Treat 2023 Dec;34(1):2117538. Epub 2022 Oct 21 doi: 10.1080/09546634.2022.2117538. PMID: 36036585

See all (1)