Generalized basaloid follicular hamartoma syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
Generalized basaloid follicular hamartoma syndrome is a rare, genetic skin disease characterized by multiple milium-like, comedone-like lesions and skin-colored to hyperpigmented, 1 to 2 mm-sized papules, associated with hypotrichosis and palmar/plantar pits. Lesions are usually first noticed on cheeks or neck and gradually increase in size and number to involve the scalp, face, ears, shoulders, chest, axillas, and upper arms. In severe cases, lower back, lower arms, and back of the legs can be involved. Mild hypohidrosis has also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Generalized basaloid follicular hamartoma syndrome | |
| fr | Syndrome d'hamartome basaloïde folliculaire généralisé | |
| de | Syndrom der generalisierten basaloiden follikulären Hamartome | |
| es | Síndrome de hamartoma folicular basaloide generalizado | |
| it | Sindrome da amartoma follicolare basaloide generalizzato | |
| nl | Gegeneraliseerd basaloïd folliculair hamartoom-syndroom | |
| pt | Síndrome hamartoma folicular basalóide, generalizado | |
| pl | Zespół uogólnionej bazaloidalnej pęcherzykowej hamartomy | |
| cs | Syndrom generalizovaného basaloidního folikulárního hamartomu | |
| uk | Синдром генералізованої базалоїдної фолікулярної гамартоми | |
| zh | 广泛性基底细胞样滤泡错构瘤综合征 | |
| tr | Jeneralize bazaloid foliküler hamartoma sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605827 | E | validated | |
| ICD-10 | Q85.8 | NTBT | attributed | validated |
| ICD-11 | LC01 | NTBT | attributed | validated |
| MONDO | 0011605 | E | validated | |
| UMLS | C4707879 | 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
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/168632
- This record as JSON: /data/d/168632.json