Localized dystrophic epidermolysis bullosa, nails only
Synonyms: Localized DEB, nails only
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A form of localized dystrophic epidermolysis bullosa characterized by dystrophic nails in the absence of blistering. The nail deformity is often limited to toenails which can appear thickened and shortened, or may be absent. No other cutaneous or extracutaneous symptoms are observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Localized dystrophic epidermolysis bullosa, nails only | Localized DEB, nails only |
| fr | Epidermolyse bulleuse dystrophique localisée, forme isolée des ongles | EBD localisée, forme isolée des ongles |
| de | Epidermolysis bullosa, dystrophe, lokalisierte, nur Nägel | EBD der Nägel |
| es | Epidermólisis ampollosa distrófica localizada, sólo ungueal | DEB localizada, sólo ungueal · Epidermólisis bullosa distrófica localizada, sólo ungueal |
| it | Epidermolisi bollosa distrofica localizzata limitata alle unghie | DEB limitata alle unghie |
| nl | Gelokaliseerde dystrofische epidermolysis bullosa van uitsluitend nagels | Gelokaliseerde DEB van uitsluitend nagels |
| pt | Epidermólise bolhosa distrófica localizada, apenas as unhas | |
| pl | Pęcherzowe dystroficzne oddzielanie się naskórka zlokalizowane, dotyczące tylko paznokci | = en |
| cs | Dystrofická bulózní epidermolýza s postižením nehtů | DEB-na · DEB s postižením nehtů |
| uk | Локалізований дистрофічний бульозний епідермоліз, тільки нігті | Локалізований ДЕБ, тільки нігті |
| zh | 显性营养不良大疱性表皮松解症（仅指甲） | 仅指甲受累的DDEB |
| tr | Dominant distrofik epidermolizis bülloza, sadece tırnaklar | Sadece tırnakları tutan DDEB |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 607523 | E | validated | |
| ICD-10 | Q81.2 | NTBT | attributed | validated |
| ICD-11 | EC32 | NTBT | attributed | validated |
| MONDO | 0015553 | E | validated | |
| UMLS | C4302547 | 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:595356Localized dystrophic epidermolysis bullosa
rare developmental anomalies during embryogenesis; rare gastroenterological diseases; rare genetic diseases; rare skin diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL7A1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2214 | ENSG00000114270 | 120120 | 3p21.31 | collagen type VII alpha 1 chain |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Cases/families | 10 families | Worldwide | Family(ies) | 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
11 annotations · validated 2020-10-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001808 | Fragile nails | |
| HP:0008404 | Nail dystrophy | |
| HP:0001805 | Onychogryphosis | |
| Frequent (79-30%) | ||
| HP:0008391 | Dystrophic fingernails | |
| HP:0001810 | Dystrophic toenail | |
| HP:0040036 | Onychogryposis of fingernail | |
| HP:0008401 | Onychogryposis of toenails | |
| Occasional (29-5%) | ||
| HP:0001802 | Absent toenail | |
| Excluded (0%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0011121 | Abnormal skin morphology | |
| HP:0001030 | Fragile skin | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 20301481[PMID]_11260188[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/158676
- This record as JSON: /data/d/158676.json