Epidermolytic nevus
Synonyms: Epidermal nevus with epidermolytic hyperkeratosis · Epidermolytic epidermal nevus · Epidermolytic verrucous epidermal nevus
- Type
- Disease
- Group
- Disorder
- Age of onset
- All ages
- Status
- active
A rare nevus characterized by single or multiple non-inflammatory verrucous skin lesions composed of keratinocytes, often present from birth, and distributed along the lines of Blaschko. Histologically, the lesions show features of epidermolytic hyperkeratosis with perinuclear vacuolization of keratinocytes of the upper epidermis with coarse keratohyaline granules. There is no extra-cutaneous involvement. Affected individuals are at risk of parenting a child with bullous ichthyosiform erythroderma.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Epidermolytic nevus | Epidermal nevus with epidermolytic hyperkeratosis · Epidermolytic epidermal nevus · Epidermolytic verrucous epidermal nevus |
| fr | Naevus épidermolytique | Nævus verruqueux épidermolytique |
| de | Naevus, epidermolytischer | Epidermalnävus mit epidermolytischer Hyperkeratose · Epidermalävus, epidermolytischer · Epidermolytischer Epidermalnävus · Epidermolytischer verruköser Epidermalnävus |
| es | Nevo epidermolítico | Nevo epidérmico con hiperqueratosis epidermolítica · Nevo epidérmico epidermolítico · Nevo epidérmico verrugoso epidermolítico · Nevus epidérmico epidermolítico |
| it | Nevo epidermolitico | |
| nl | Epidermolytische naevus | Epidermale naevus met epidermolytische hyperkeratose · Epidermolytische epidermale naevus · Epidermolytische verruceuze epidermale naevus |
| pt | Nevo epidermolítico | |
| pl | Znamię epidermolityczne | Znamię epidermolityczne naskórkowe · Znamię epidermolityczne naskórkowe brodawkowate · Znamię naskórkowe z epidermolitycznym nadmiernym rogowaceniem |
| cs | Epidermolytický névus | = en |
| uk | Епідермолітичний невус | Епідермальний невус з епідермолітичним гіперкератозом · Епідермолітичний епідермальний невус · Епідермолітичний веррукозний епідермальний невус |
| zh | 表皮松解色素痣 | 表皮色素痣伴表皮松解型角化过度症 |
| tr | Epidermolitik nevüs | Epidermolitik epidermal nevüs · Epidermolitik verrüköz epidermal nevüs · Epidermolitik hiperkeratoz ile seyreden epidermal nevüs |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q82.5 | NTBT | attributed | validated |
| ICD-11 | LC00.Y | NTBT | index | validated |
| MONDO | 0044656 | E | validated | |
| UMLS | C1302848 | 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 (3):
- ORPHA:281103Keratinopathic ichthyosis
rare genetic diseases; rare skin diseases - ORPHA:622914Rare genetic nevus
rare genetic diseases - ORPHA:294057Rare nevus
rare skin diseases; rare neoplastic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | >1 / 1000 | 100 / 100 000 | Worldwide | Value and class | 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/497737
- This record as JSON: /data/d/497737.json