Xanthoma disseminatum
Synonyms: Montgomery syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare, systemic disease characterized by normolipidemic mucocutaneous xanthomatosis with histiocytic cells proliferation and secondary deposition of lipid in the dermis. Clinically, multiple, grouped, coalescent, yellowish red to brown papulonodular lesions in the skin and mucous membranes are present. Less often internal organs are affected, in particular pituitary gland and/or hypothalamus. Patients present with characteristic mucocutaneous lesions, diabetes insipidus, dysphagia, dyspnea, hoarseness of voice, and blurred vision.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Xanthoma disseminatum | Montgomery syndrome |
| fr | Xanthome disséminé | Syndrome de Montgomery |
| de | Xanthoma disseminatum | Montgomery-Syndrom |
| es | Xantoma diseminado | Síndrome de Montgomery |
| it | Xantoma disseminato | Sindrome di Montgomery |
| nl | Xanthoma disseminatum | Syndroom van Montgomery |
| pt | Xantoma disseminado | |
| pl | Rozsiana postać żółtakoziarniniakowatości | Zespół Montgomery'ego |
| cs | Diseminovaný xantom | Montgomeryho syndrom |
| uk | Ксантома поширена | Синдром Монтгомері |
| zh | 播散性黄瘤 | Montgomery综合征 |
| tr | Ksantoma disseminatum | Montgomery sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E78.2 | NTBT | attributed | validated |
| ICD-11 | EE81 | NTBT | index | validated |
| MONDO | 0015535 | E | validated | |
| UMLS | C0043322 | E | validated | |
| GARD | 13186 | E | validated | |
| MedDRA | 10052575 | 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
6 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002797 | Osteolysis | |
| Frequent (79-30%) | ||
| HP:0000873 | Diabetes insipidus | |
| Occasional (29-5%) | ||
| HP:0025426 | Abnormal bronchus morphology | |
| HP:0000159 | Abnormal lip morphology | |
| HP:0001600 | Abnormality of the larynx | |
| HP:0000600 | Abnormality of the pharynx | |
Run the differential on the 1 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/158003
- This record as JSON: /data/d/158003.json