Congenital panfollicular nevus
- Type
- Disease
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
Congenital panfollicular nevus is a rare, benign, skin tumor disorder characterized by the presence of congenital, large (few centimeters), elevated, well-circumscribed, pink-tan, multinodular, non-ulcerative, bosselated-surface skin lesions located on the neck, scalp or hand and which enlarge with time. Histologically, hamartomatous proliferation containing irregularly arranged, malformed hair follicles in various stages of development, surrounded by fibrous tissue and densely distributed within the dermis is observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital panfollicular nevus | |
| fr | Naevus panfolliculaire congénital | |
| de | Naevus, panfollikulärer, kongenitaler | |
| es | Nevo panfolicular congénito | |
| it | Nevo panfollicolare congenito | |
| nl | Congenitale panfolliculaire naevus | |
| pt | Nevo panfolicular congénito | |
| pl | Znamię wrodzone mieszków włosa | |
| cs | Vrozený panfolikulární névus | |
| uk | Вроджений панфолікулярний невус | |
| zh | 先天性panfollicular痣 | |
| tr | Doğumsal panfoliküler nevüs |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q85.8 | NTBT | attributed | validated |
| ICD-11 | 2F20.Y | NTBT | attributed | validated |
| MONDO | 0015341 | E | validated | |
| UMLS | C4476799 | E | validated | |
| GARD | 19912 | 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:294057Rare nevus
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 | 3 cases | Worldwide | Case(s) | Validated | 26822169[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26822169[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
6 annotations · validated 2016-10-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0010566 | Hamartoma | |
| Very frequent (99-80%) | ||
| HP:0200036 | Skin nodule | |
| HP:0012500 | Verrucous papule | |
| Frequent (79-30%) | ||
| HP:0000962 | Hyperkeratosis | |
| Excluded (0%) | ||
| HP:0012531 | Pain | |
| HP:0000989 | Pruritus | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 15660657[PMID]_26822169[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/139414
- This record as JSON: /data/d/139414.json