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1 OMIM reference -
2 associated genes
10 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
1 OMIM reference -
2 associated genes
10 signs/symptoms
Epidermolysis bullosa simplex with mottled pigmentation
Lethal acantholytic epidermolysis bullosa

KRT14 DSP
KRT5 JUP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
KRT5
(0.58)
DSP



Citations in the biomedical literature:


Epidermolysis bullosa simplex with mottled pigmentation
KRT14 KRT5
Lethal acantholytic epidermolysis bullosa
DSP JUP



Epidermolysis bullosa simplex with mottled pigmentation
Lethal acantholytic epidermolysis bullosa

Synonym(s):
- EBS-MP

Synonym(s):
- LAEB

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
1 MeSH reference: C535959
External references:
1 OMIM reference -
1 MeSH reference: C535493


COMMON
SIGNS
- Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment


Epidermolysis bullosa simplex with mottled pigmentation
Lethal acantholytic epidermolysis bullosa

Very frequent
- Abnormal pigmentary skin changes / skin pigmentation anomalies
- Autosomal dominant inheritance
- Follicular / erythematous / edematous papules / milium
- Irregular / patchy skin hypopigmentation

Frequent
- Abnormal fingernails
- Bruisability
- Nails anomalies
- Palmoplantar hyperkeratosis / keratoderma
- Premature ageing



Very frequent
- Absent / small fingernails / anonychia of hands
- Alopecia
- Autosomal recessive inheritance
- Chronic skin infection / ulcerations / ulcers / cancrum
- Early death / lethality
- Enanthema / aphtosa / aphta / leukoplakia
- Premature eruption of teeth / natal teeth

Occasional
- Cardiomyopathy / hypertrophic / dilated
- Epigastralgia / heartburn / gastric / duodenal ulcer / gastritis