Familial multiple discoid fibromas
Synonyms: Familial multiple trichodiscomas
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adolescent, Adult, Childhood, Infancy, Neonatal
- Status
- active
A rare, genetic, skin tumor disorder characterized by childhood-onset of multiple, benign, asymptomatic, white to flesh-colored papules predominantly located on the face, ears, neck and trunk, not associated with systemic organ involvement, malignancies or <i>FLCN</i> gene locus mutation.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial multiple discoid fibromas | Familial multiple trichodiscomas |
| fr | Fibromes discoïdes multiples familiaux | Trichodiscomes multiples familiaux |
| de | Familiäre multiple hereditäre diskoide Fibrome | Trichodiskom, familiäres multiples |
| es | Fibromas discoides múltiples familiares | Tricodiscomas múltiples familiares |
| it | Fibromi discoidi multipli familiari | |
| nl | Familiale multipele discoïde fibromen | Familiale multipele trichodiscomen |
| pt | Fibromas discoides múltiplo familiar | |
| pl | Włókniaki rodzinne liczne o kształcie dysku | = en |
| cs | Familiární četné diskoidní fibromy | Familiární četné trichodiskomy |
| uk | Сімейні множинні дискоїдні фіброми | Сімейні множинні триходискоми |
| zh | 家族性多发性盘状纤维瘤 | 家族性多发性毛盘状瘤 |
| tr | Ailesel çoklu diskoid fibromlar | Ailesel çoklu trikodiskomlar |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 190340 | E | validated | |
| ICD-10 | D23.9 | NTBT | attributed | validated |
| MONDO | 0008594 | E | validated | |
| MeSH | C536847 | E | validated | |
| UMLS | C1860850 | E | validated | |
| GARD | 8479 | 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 (2):
- ORPHA:183487Genetic skin tumor or hamartoma
rare genetic diseases - ORPHA:79386Rare skin tumor or hamartoma
rare skin diseases; rare neoplastic 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 | 44 cases | Worldwide | Case(s) | Validated | 29067220[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29067220[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/538756
- This record as JSON: /data/d/538756.json