Familial cutaneous collagenoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent
- Status
- active
Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial cutaneous collagenoma | |
| fr | Collagénome cutané familial | |
| de | Kollagenom, familiäres kutanes | |
| es | Colagenoma cutáneo familiar | |
| it | Collagenoma cutaneo familiare | |
| nl | Familiaal cutaan collagenoom | |
| pt | Colagenoma cutâneo, familiar | |
| pl | Rodzinna skórna collagenoma | |
| cs | Familiární kožní kolagenom | |
| uk | Сімейна шкірна колагенома | |
| zh | 家族性皮肤胶原瘤 | |
| tr | ailesel kutanöz kollajenom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 115250 | E | validated | |
| ICD-10 | L94.8 | NTBT | attributed | validated |
| ICD-11 | LC2Y | NTBT | index | validated |
| MONDO | 0007271 | E | validated | |
| MeSH | C562925 | E | validated | |
| UMLS | C0406817 | E | validated | |
| GARD | 9799 | 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:228215Genetic dermis elastic tissue disorder
rare genetic diseases; rare skin 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 | 16 cases | Worldwide | Case(s) | Validated | 5657391[PMID]_486326[PMID]_22028557[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_5657391[PMID]_486326[PMID]_22028557[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
7 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0200034 | Papule | |
| HP:0200036 | Skin nodule | |
| Frequent (79-30%) | ||
| HP:0001000 | Abnormality of skin pigmentation | |
| Occasional (29-5%) | ||
| HP:0001681 | Angina pectoris | |
| HP:0001631 | Atrial septal defect | |
| HP:0001638 | Cardiomyopathy | |
| HP:0001635 | Congestive heart failure | |
Run the differential on the 2 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/53296
- This record as JSON: /data/d/53296.json