ORPHA:158673
Localized dystrophic epidermolysis bullosa, acral form
Synonyms: Localized DEB, acral form
- 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 trauma-induced blistering confined primarily to the hands and feet. Healing of blisters is associated with milia formation, atrophic scarring and dystrophic nails. There is no extracutaneous involvement.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Localized dystrophic epidermolysis bullosa, acral form | Localized DEB, acral form |
| fr | Epidermolyse bulleuse dystrophique localisée, forme acrale | EBD localisée, forme acrale |
| de | Epidermolysis bullosa, dystrophe lokalisierte, akrale Form | DEB, lokalisierte, akrale Form |
| es | Epidermólisis ampollosa distrófica localizada forma acral | DEB localizada forma acral · Epidermólisis bullosa distrófica acral · Epidermólisis bullosa distrófica localizada forma acral |
| it | Epidermolisi bollosa distrofica localizzata, forma acrale | DEB localizzata, forma acrale |
| nl | Gelokaliseerde dystrofische epidermolysis bullosa, acrale vorm | Gelokaliseerde DEB, acrale vorm |
| pt | Epidermólise bolhosa distrófica localizada, forma acral | |
| pl | Pęcherzowe dystroficzne oddzielanie się naskórka zlokalizowane, postać kończynowa | Dystroficzne dominujące pęcherzowe oddzielanie się naskórka kończynowe |
| cs | Akrálně dystrofická bulózní epidermolýza | DEB, akrální · DEB-ac |
| uk | Локалізований дистрофічний бульозний епідермоліз, акральна форма | Локалізований ДЕБ, акральна форма |
| zh | 肢端营养不良性大疱性表皮松解症 | = en |
| tr | Akral distrofik epidermolizis bülloza | = en |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q81.2 | NTBT | attributed | validated |
| ICD-11 | EC32 | NTBT | attributed | validated |
| MONDO | 0015552 | E | validated | |
| UMLS | C4518087 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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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.
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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 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 families | Worldwide | Family(ies) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | 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.
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HPO phenotypes
20 annotations · validated 2020-10-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0002814 | Abnormality of the lower limb | |
| HP:0031045 | Acral blistering | |
| HP:0007473 | Crusting erythematous dermatitis | |
| HP:0000992 | Cutaneous photosensitivity | |
| HP:0004334 | Dermal atrophy | |
| HP:0008391 | Dystrophic fingernails | |
| HP:0001810 | Dystrophic toenail | |
| HP:0010783 | Erythema | |
| HP:0025474 | Erythematous plaque | |
| HP:0002043 | Esophageal stricture | |
| HP:0001030 | Fragile skin | |
| HP:0001056 | Milia | |
| HP:0000972 | Palmoplantar hyperkeratosis | |
| HP:0001029 | Poikiloderma | |
| HP:0001009 | Telangiectasia | |
| HP:0000963 | Thin skin | |
| Occasional (29-5%) | ||
| HP:0009811 | Abnormality of the elbow | |
| HP:0002815 | Abnormality of the knee | |
| HP:0008390 | Recurrent loss of toenails and fingernails | |
Annotation source: 20301481[PMID]_11260188[PMID]_29179948[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/158673
- This record as JSON: /data/d/158673.json