Localized dystrophic epidermolysis bullosa, pretibial form
Synonyms: DEB-Pt · Localized DEB, pretibial 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 the development of blisters, erosions, and lichenoid lesions predominantly in the anterior lower legs (pretibial areas and feet), the hands and nails. Individual lesions, which tend to be papular or plaque-like, are often violaceous. Pruritus is possible. Healing of blisters is associated with hypertrophic scarring and milia formation. Dystrophy of both fingernails and toenails is characteristic.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Localized dystrophic epidermolysis bullosa, pretibial form | DEB-Pt · Localized DEB, pretibial form |
| fr | Epidermolyse bulleuse dystrophique localisée, forme prétibiale | EBD localisée, forme prétibiale |
| de | Epidermolysis bullosa, dystrophe lokalisierte, prätibiale Form | DEB-Pt · Lokalisierte DEB, prätibiale Form |
| es | Epidermólisis ampollosa distrófica localizada forma pretibial | DEB localizada, forma pretibial · Epidermólisis bullosa distrófica localizada forma pretibial |
| it | Epidermolisi bollosa distrofica localizzata, forma pretibiale | DEB localizzata forma pretibiale · DEB-Pt |
| nl | Gelokaliseerde dystrofische epidermolysis bullosa, pretibiale vorm | DEB-Pt · Gelokaliseerde DEB, pretibiale vorm |
| pt | Epidermólise bolhosa distrófica localizada, forma pré-tibial | DEB localizada, forma pré-tibial |
| pl | Pęcherzowe oddzielanie się naskórka dystroficzne zlokalizowane, forma przedpiszczelowa | = en |
| cs | Pretibiální dystrofická epidermolysis bullosa | DEB-Pt · Pretibiální DEB |
| uk | Локалізований дистрофічний бульозний епідермоліз, претібіальний | ДБЕ-Pt · Локалізований ДБЕ, претибіальна форма |
| zh | 胫前性营养不良性大疱性表皮松解症 | 胫前性DEB |
| tr | Pretibial distrofik epidermolizis bülloza | DEB-Pt · Pretibial DEB |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 131850 | E | validated | |
| ICD-10 | Q81.2 | NTBT | attributed | validated |
| ICD-11 | EC32 | NTBT | index | validated |
| MONDO | 0007552 | E | validated | |
| UMLS | C0432321 | E | validated | |
| GARD | 2155 | 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 |
|---|---|---|---|---|---|---|
| Cases/families | 40 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.
HPO phenotypes
35 annotations · validated 2020-06-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0011355 | Localized skin lesion | |
| HP:0012221 | Pretibial blistering | |
| Frequent (79-30%) | ||
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0008388 | Abnormal toenail morphology | |
| HP:0001798 | Anonychia | |
| HP:0001075 | Atrophic scars | |
| HP:0000987 | Atypical scarring of skin | |
| HP:0001030 | Fragile skin | |
| HP:0010562 | Keloids | |
| HP:0001056 | Milia | |
| HP:0008404 | Nail dystrophy | |
| HP:0007446 | Palmoplantar blistering | |
| HP:0000989 | Pruritus | |
| Occasional (29-5%) | ||
| HP:0000478 | Abnormality of the eye | |
| HP:0000670 | Carious teeth | |
| HP:0030350 | Erythematous papule | |
| HP:0045059 | Hyperkeratotic papule | |
| HP:0004057 | Mitten deformity | |
| HP:0200097 | Oral mucosal blisters | |
| HP:0200041 | Skin erosion | |
| HP:0200037 | Skin vesicle | |
| HP:0001792 | Small nail | |
| Excluded (0%) | ||
| HP:0012252 | Abnormal respiratory system morphology | |
| HP:0001965 | Abnormality of the scalp | |
| HP:0000079 | Abnormality of the urinary system | |
| HP:0001903 | Anemia | |
| HP:0002671 | Basal cell carcinoma | |
| HP:0012056 | Cutaneous melanoma | |
| HP:0006297 | Enamel hypoplasia | |
| HP:0004386 | Gastrointestinal inflammation | |
| HP:0031464 | Genital blistering | |
| HP:0001510 | Growth delay | |
| HP:0000982 | Palmoplantar keratoderma | |
| HP:0002860 | Squamous cell carcinoma | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 20301481[PMID]_8245264[PMID]_29267469[PMID]_24690439[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79410
- This record as JSON: /data/d/79410.json