Epidermal nevus syndrome
Synonyms: Epidermal hamartoma syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
Epidermal nevus syndrome (ENS) is a rare congenitally acquired syndrome, characterized by the presence of epidermal nevi in association with various developmental abnormalities of the skin, eyes, nervous, skeletal, cardiovascular and urogenital systems.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Epidermal nevus syndrome | Epidermal hamartoma syndrome |
| fr | Syndrome du naevus épidermique | Syndrome de l'hamartome épidermique |
| de | Syndrom des epidermalen Naevus | Syndrom des epidermalen Hamartoms |
| es | Síndrome de nevo epidérmico | Síndrome del hamartoma epidérmico |
| it | Sindrome del nevo epidermico | Sindrome dell'amartoma epidermico |
| nl | Epidermale naevus-syndroom | Epidermaal hamartoom-syndroom |
| pt | Síndrome do nevo epidérmico | Síndrome do hamartoma epidérmico |
| pl | Zespół znamienia naskórka | Zespół hamartoma naskórka |
| cs | Syndrom epidermálních névů | Syndrom epidermálních hamartomů |
| uk | Синдром епідермального невуса | Синдром епідермальної гамартоми |
| zh | 表皮痣综合征 | 表皮错构瘤综合征 |
| tr | Epidermal nevüs sendromu | Epidermal hamartom sendromu |
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 | 0018115 | E | validated | |
| UMLS | C5848385 | E | validated | |
| MedDRA | 10014985 | 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 (4):
- ORPHA:622914Rare genetic nevus
rare genetic diseases - ORPHA:294057Rare nevus
rare skin diseases; rare neoplastic diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic 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 | 400 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | Unknown | — | Worldwide | Class only | 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
26 annotations · validated 2016-08-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003764 | Nevus | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0006827 | Atrophy of the spinal cord | |
| HP:0000953 | Hyperpigmentation of the skin | |
| HP:0001010 | Hypopigmentation of the skin | |
| HP:0012531 | Pain | |
| HP:0007199 | Progressive spastic paraparesis | |
| HP:0003416 | Spinal canal stenosis | |
| HP:0002176 | Spinal cord compression | |
| Occasional (29-5%) | ||
| HP:0012443 | Abnormality of brain morphology | |
| HP:0001284 | Areflexia | |
| HP:0000483 | Astigmatism | |
| HP:0003487 | Babinski sign | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001263 | Global developmental delay | |
| HP:0001276 | Hypertonia | |
| HP:0012032 | Lipoma | |
| HP:0010302 | Spinal cord tumor | |
| HP:0002944 | Thoracolumbar scoliosis | |
| HP:0000505 | Visual impairment | |
| HP:0009077 | Weakness of long finger extensor muscles | |
| Very rare (<4-1%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0004942 | Aortic aneurysm | |
| HP:0100512 | Low levels of vitamin D | |
| HP:0000938 | Osteopenia | |
| HP:0000113 | Polycystic kidney dysplasia | |
| HP:0002859 | Rhabdomyosarcoma | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 25928347[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/35125
- This record as JSON: /data/d/35125.json