Intermediate epidermolysis bullosa simplex with cardiomyopathy
Synonyms: Intermediate EBS with cardiomyopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare, inherited, epidermolysis bullosa characterized by aplasia cutis congenita on the extremities, leaving behind hypopigmentation and atrophy in a whirled pattern. Generalized blistering persists during childhood and heals with cutaneous and follicular atrophy, linear and stellate scars, and hypopigmentation. Skin fragility decreases with adulthood. Adult patients exhibit dyspigmentation and atrophy of the skin, scars, follicular atrophoderma, sparse body hair, progressive diffuse alopecia of the scalp, diffuse palmoplantar keratoderma, and nail changes. Dilative cardiomyopathy with heart failure complicates the disease course in young adulthood or later and may have lethal outcome. Ultra-structurally, intraepidermal splitting appears at the level of the basal keratinocytes, above the hemidesmosomes.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intermediate epidermolysis bullosa simplex with cardiomyopathy | Intermediate EBS with cardiomyopathy |
| fr | Epidermolyse bulleuse simple intermédiaire avec cardiomyopathie | EBS intermédiaire avec cardiomyopathie |
| de | Intermediäre Epidermolysis bullosa simplex mit Kardiomyopathie | Intermediäre EBS mit Kardiomyopathie |
| es | Epidermólisis ampollosa simple intermedia con miocardiopatía | EBS intermedia con miocardiopatía · Epidermólisis bullosa simple intermedia con miocardiopatía |
| it | Epidermolisi bollosa semplice intermedia con cardiomiopatia | EBS intermedia con cardiomiopatia |
| nl | Intermediaire epidermolysis bullosa simplex met cardiomyopathie | Intermediaire EBS met cardiomyopathie |
| pt | Epidermólise bolhosa simples intermédia com cardiomiopatia | |
| pl | Postać prosta pęcherzowego oddzielania się naskórka z kardiomiopatią | = en |
| cs | Generalizovaná bazální epidermolysis bullosa simplex s kožní atrofií, jizvením a ztrátou vlasů | = en |
| uk | Помірно виражений простий бульозний епідермоліз з кардіоміопатією | Проміжна EBS з кардіоміопатією |
| zh | 单纯大疱性表皮松解，广泛性，伴瘢痕和脱发 | = en |
| tr | Deri atrofisi, yara izi ve saç dökülmesi ile seyreden jeneralize bazal epidermolizis bülloza simpleks | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617294 | E | validated | |
| ICD-10 | Q81.0 | NTBT | attributed | validated |
| ICD-11 | EC30 | NTBT | attributed | validated |
| MONDO | 0015006 | E | validated | |
| UMLS | C5555869 | 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:595351Epidermolysis bullosa simplex with extracutaneous involvement
rare genetic diseases; rare skin diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KLHL24 | Disease-causing germline mutation(s) in | Assessed | HGNC:25947 | ENSG00000114796 | 611295 | 3q27.1 | kelch like family member 24 | 27889062[PMID]_27798626[PMID]_28532758[PMID]_29574966[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 14 cases | Worldwide | Case(s) | Validated | 27889062[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27889062[PMID] |
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/508529
- This record as JSON: /data/d/508529.json