Pilomatrixoma
Synonyms: Epithelioma calcificans of Malherbe · Pilomatricoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
Pilomatrixoma is a rare and benign hair cell-derived tumor occurring mostly in young adults (usually under the age of 20) and characterized as a 3-30 mm solitary, painless, firm, mobile, deep dermal or subcutaneous tumor, most commonly found in the head, neck or upper extremities. When superficial, the tumors tint the skin blue-red. Multiple pilomatrixomas are seen in myotonic dystrophy, Gardner syndrome, Rubinstein-Taybi syndrome, and Turner syndrome.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pilomatrixoma | Epithelioma calcificans of Malherbe · Pilomatricoma |
| fr | Pilomatrixome | Pilomatricome · Tumeur calcifiée de Malherbe |
| de | Pilomatrixom | Epithelioma calcificans Malherbe |
| es | Pilomatrixoma | Epitelioma calcificante de Malherbe |
| it | Pilomatrixoma | Epitelioma calcificante di Malherbe |
| nl | Pilomatrixoom | Pilomatricoom · Epithelioma calcificans van Malherbe |
| pt | Pilomatrixoma | |
| pl | Pilomatricoma / Guz macierzy włosa | Nabłoniak wapniejący Malherbe |
| cs | Pilomatrixom | Malherbeův kalcifikující epiteliom |
| uk | Піломатріксома | Кальцифікована епітеліома Мальхербе · Піломатрікома |
| zh | 毛母质瘤 | Malherbe钙化上皮瘤 |
| tr | Pilomatriksoma | Pilomatrikoma · Malherbe'nin epiteliyoma kalsifikansı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 132600 | E | validated | |
| ICD-10 | D23.3 | BTNT | attributed | validated |
| ICD-10 | D23.4 | BTNT | attributed | validated |
| ICD-10 | D23.6 | BTNT | attributed | validated |
| ICD-11 | 2F22 | NTBT | index | validated |
| MONDO | 0007564 | E | validated | |
| MeSH | D018296 | E | validated | |
| UMLS | C0206711 | E | validated | |
| GARD | 9452 | E | validated | |
| MedDRA | 10035040 | 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CTNNB1 | Disease-causing somatic mutation(s) in | Assessed | HGNC:2514 | ENSG00000168036 | 116806 | 3p22.1 | catenin beta 1 | 10192393[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| 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
6 annotations · validated 2022-11-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0030434 | Pilomatrixoma | |
| Very frequent (99-80%) | ||
| HP:0012288 | Neoplasm of head and neck | |
| HP:0001482 | Subcutaneous nodule | |
| Occasional (29-5%) | ||
| HP:0010766 | Ectopic calcification | |
| Very rare (<4-1%) | ||
| HP:0033559 | Anti-myeloperoxidase antibody positivity | |
| HP:0000989 | Pruritus | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 32700760[PMID]_30119102[PMID]_35147098[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/91414
- This record as JSON: /data/d/91414.json