ORPHA:33111
Granulomatous slack skin
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
A rare variant of mycosis fungoides (MF) characterized by the presence of circumscribed areas of pendulous lax skin.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Granulomatous slack skin | |
| fr | Chalazodermie granulomateuse | Dermatochalasie granulomateuse |
| de | Haut, granulomatöse schlaffe | Kutanes elastolytisches T-Zell-Lymphom |
| es | Piel laxa granulomatosa | Granuloma chalazodérmico · Dermatocalasia granulomatosa |
| it | Granulomatosi con cutis laxa | |
| nl | Granulomateuze slappe huid | |
| pt | Pele laxa granulomatosa | |
| pl | Ziarniniakowe zwiotczenie skóry | |
| cs | Granulomatózní syndrom povislé kůže | |
| uk | Гранулематозна вяла шкіра | |
| zh | 肉芽肿性皮肤松弛症 | |
| tr | Granülomatöz gevşek deri |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C84.0 | NTBT | attributed | validated |
| ICD-11 | 2B01 | NTBT | index | validated |
| ICD-11 | XH0EH1 | E | specific | validated |
| MONDO | 0018031 | E | validated | |
| UMLS | C0376407 | E | validated | |
| GARD | 10986 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:178566Mycosis fungoides and variants
rare skin diseases; rare hematological diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | 14726855[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
10 annotations · validated 2016-08-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000973 | Cutis laxa | |
| HP:0010783 | Erythema | |
| HP:0012189 | Hodgkin lymphoma | |
| HP:0002665 | Lymphoma | |
| HP:0001582 | Redundant skin | |
| HP:0030053 | Stiff skin | |
| Occasional (29-5%) | ||
| HP:0002733 | Abnormality of the lymph nodes | |
| HP:0001919 | Acute kidney injury | |
| HP:0003072 | Hypercalcemia | |
| HP:0000121 | Nephrocalcinosis | |
Annotation source: 3496402[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/33111
- This record as JSON: /data/d/33111.json