SCALP syndrome
Synonyms: Sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome · Sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Neonatal
- Status
- active
SCALP syndrome is a rare skin disease characterized by the association of sebaceous nevus and aplasia cutis congenita (usually on the scalp and face) in conjunction with limbal dermoid of the eye, a giant congenital melanocytic nevus and variable central nervous system abnormalities, including seizures, hydrocephalus, neurocutaneous melanosis, arachnoid cysts, and diffuse unilateral hemisphere enlargement.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | SCALP syndrome | Sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome · Sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome |
| fr | Syndrome SCALP | Syndrome de naevus sébacé-malformations du SNC-aplasie cutanée congénitale-demoïde limbique-naevus pigmenté · Syndrome de naevus sébacé-malformations du système nerveux central-aplasie cutanée congénitale-demoïde limbique-naevus pigmenté |
| de | SCALP-Syndrom | Naevus sebaceus-ZNS Fehlbildungen-Aplasia cutis congenita-limbales Dermoid-pigmentierter Naevus-Syndrom |
| es | Síndrome SCALP | Síndrome de nevo sebáceo-malformaciones del SNC-aplasia cutis congénita-dermoide límbico-nevo pigmentado · Síndrome de nevo sebáceo-malformaciones del sistema nervioso central-aplasia cutis congénita-dermoide límbico-nevo pigmentado |
| it | Sindrome SCALP | Sindrome nevo sebaceo-malformazioni del CNS-aplasia cutanea congenita-dermoide limbare-nevo pigmentato · Sindrome nevo sebaceo-malformazioni del sistema nervoso centrale-aplasia cutanea congenita |
| nl | SCALP-syndroom | Naevus sebaceus - malformaties van centraal zenuwstelsel - aplasia cutis congenita - limbaal dermoïd - gepigmenteerde naevus-syndroom · Talgkliernaevus - CZS-malformaties - aplasia cutis congenita - limbaal dermoïd - gepigmenteerde naevus-syndroom |
| pt | Síndrome SCALP | |
| pl | Zespół SCALP | Zespół znamię łojowe-wady centralnego układu nerwowego-wrodzona aplazja skóry-skórzak rogówki-znamię barwnikowe · Zespół znamię łojowe-wady CUN-wrodzona aplazja skóry-skórzak rogówki-znamię barwnikowe |
| cs | SCALP syndrom | Syndrom zahrnující sebaceózní névus, malformace CNS, aplasia cutis congenita, dermoid rohovky a pigmentový névus · Syndrom zahrnující sebaceózní névus, malformace centrálního nervového systému, aplasia cutis congenita, dermoid rohovky a pigmentový névus |
| uk | Синдром SCALP | Синдром сального невуса - вади розвитку центральної нервової системи - вродженої аплазії шкіри - лімфатичного дермоїду - пігментного невусу · Синдром сального невуса - вади розвитку ЦНС - вродженої аплазії шкіри - лімбального дермоїду - пігментного невусу |
| zh | SCALP综合征 | 皮脂腺痣-中枢神经系统畸形-先天性皮肤发育不全-角膜皮样瘤-色素痣综合征 |
| tr | SCALP sendromu | Sebasöz nevüs-CNS malformasyonları-aplazi kutis doğumsal-limbal dermoid pigmentli nevüs sendromu · Sebasöz nevüs-merkezi sinir sistemi malformasyonları-aplazi kutis doğumsal-limbal dermoid pigmentli nevüs sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q84.8 | NTBT | attributed | validated |
| ICD-11 | LC60 | NTBT | attributed | validated |
| MONDO | 0018260 | E | validated | |
| UMLS | C4751599 | 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 | 4 cases | Worldwide | Case(s) | Validated | 22122611[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22122611[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/370052
- This record as JSON: /data/d/370052.json