Congenital smooth muscle hamartoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
Congenital smooth muscle hamartoma (CSMH) is a rare cutaneous hamartomatous lesion most often located on the lumbosacral area or proximal limbs (but rarely on atypical areas such as scalp, eyelid or foot) and characterized by a disorganized proliferation of smooth muscle fibres of arrector pili presenting usually as a localized skin-colored or hyperpigmented plaque (up to 10 cm in diameter) with prominent vellus hairs (most common classic form) or less commonly by multiple skin-colored papules that can coalesce to form irregularly shaped plaques. With time, hyperpigmentation and vellus hairs usually diminish and neither malignant transformation nor associated systemic involvement has been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital smooth muscle hamartoma | |
| fr | Hamartome musculaire lisse congénital | |
| de | Hamartom der glatten Muskulatur, kongenitales | |
| es | Hamartoma congénito de músculo liso | |
| it | Amartoma congenito del muscolo liscio | |
| nl | Congenitaal hamartoom van glad spierweefsel | |
| pt | Hamartoma congénito do músculo liso | |
| pl | Wrodzony hamartoma z komórek mięśni gładkich | |
| cs | Vrozený hamartom hladkého svalstva | |
| uk | Вроджена гамартома гладких мязів | |
| zh | 先天性平滑肌错构瘤 | |
| tr | Doğumsal düz kas hamartomu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q85.8 | NTBT | attributed | validated |
| ICD-11 | LC02 | NTBT | index | validated |
| MONDO | 0016986 | E | validated | |
| UMLS | C0406819 | 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: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 |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 38.5 / 100 000 | Israel | Value and class | Validated | 2356798[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/263435
- This record as JSON: /data/d/263435.json