Hereditary progressive mucinous histiocytosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary progressive mucinous histiocytosis | |
| fr | Histiocytose progressive mucineuse héréditaire | |
| de | Histiozytose, progressive, muzinöse, hereditäre | |
| es | Histiocitosis progresiva mucinosa hereditaria | |
| it | Istiocitosi mucinosa ereditaria progressiva | |
| nl | Hereditaire progressieve mucineuze histiocytose | |
| pt | Histiocitose progressiva mucinosa hereditária | |
| pl | Dziedziczna postępująca histiocytoza śluzowa | |
| cs | Hereditární progresivní mucinózní histiocytóza | |
| uk | Спадковий прогресуючий муцинозний гістіоцитоз | |
| zh | 遗传性进行性粘液组织细胞增多症 | |
| tr | Kalıtsal ilerleyici müsinöz histiyositoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 142630 | E | validated | |
| ICD-10 | D76.3 | NTBT | attributed | validated |
| ICD-11 | EE8Y | NTBT | index | validated |
| MONDO | 0007725 | E | validated | |
| UMLS | C4749819 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:157987Non-Langerhans cell histiocytosis
rare skin diseases; rare systemic and rheumatological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 18 cases | Worldwide | Case(s) | Validated | 28556021[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28556021[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
6 annotations · validated 2019-07-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0025475 | Erythematous macule | |
| HP:0030350 | Erythematous papule | |
| HP:0040138 | Mucinous histiocytosis | Diagnostic criterion |
| Occasional (29-5%) | ||
| HP:0000989 | Pruritus | |
| Excluded (0%) | ||
| HP:0031871 | Abnormal Langerhans cell morphology | |
| HP:0002716 | Lymphadenopathy | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 3401026[PMID]_7944513[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/158025
- This record as JSON: /data/d/158025.json