Progressive nodular histiocytosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
Progressive nodular histiocytosis is a rare, normolipemic, non-Langerhans cell histiocytosis characterized by progressive growth of multiple to disseminated, asymptomatic skin lesions that range in appearance from yellow plaques to coalescence-prone red-brown papules, nodules and pedunculated tumors up to 5 cm in size, located typically on the face, trunk and extremities (and rarely on conjuctiva and mucous membranes). Characteristic microscopic findings include a storiform spindle cell infiltrate in the deep dermis with xanthomatized macrophages and some Touton cells in the upper dermis. It is usually not associated with systemic disease.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive nodular histiocytosis | |
| fr | Histiocytose progressive nodulaire | |
| de | Histiozytose, progressive, noduläre | |
| es | Histiocitosis nodular progresiva | |
| it | Istiocitosi nodulare progressiva | |
| nl | Progressieve nodulaire histiocytose | |
| pt | Histiocitose progressiva nodular | |
| pl | Postępująca histiocytoza guzowata | |
| cs | Progresivní nodulární histiocytóza | |
| uk | Прогресуючий вузловий гістіоцитоз | |
| zh | 进行性结节性组织细胞增多症 | |
| tr | İlerleyici nodüler histiyositoz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D76.3 | NTBT | attributed | validated |
| ICD-11 | EE81 | NTBT | index | validated |
| MONDO | 0015539 | E | validated | |
| UMLS | C4707331 | 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
0 recordsNo prevalence record in this release.
HPO phenotypes
4 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0200034 | Papule | |
| HP:0001482 | Subcutaneous nodule | |
| Occasional (29-5%) | ||
| HP:0004326 | Cachexia | |
| HP:0001945 | Fever | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/158022
- This record as JSON: /data/d/158022.json