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MCID: LCL025
MIFTS: 14
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Localized Dystrophic Epidermolysis Bullosa, Acral Form
Categories:
Fetal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Localized Dystrophic Epidermolysis Bullosa, Acral Form:
Name: Localized Dystrophic Epidermolysis Bullosa, Acral Form
58
Characteristics:Inheritance:
Autosomal dominant,Autosomal recessive 58
Classifications:
ICD10:
32
Orphanet: 58
Rare skin diseases
Developmental anomalies during embryogenesis |
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Orphanet: 58 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. MalaCards based summary: Localized Dystrophic Epidermolysis Bullosa, Acral Form, is also known as localized deb, acral form. An important gene associated with Localized Dystrophic Epidermolysis Bullosa, Acral Form is COL7A1 (Collagen Type VII Alpha 1 Chain). Affiliated tissues include skin, and related phenotypes are erythema and cutaneous photosensitivity |
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Human phenotypes related to Localized Dystrophic Epidermolysis Bullosa, Acral Form:58 30 (show all 21)
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Organs/tissues related to Localized Dystrophic Epidermolysis Bullosa, Acral Form:
MalaCards :
Skin
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Search
GEO
for disease gene expression data for Localized Dystrophic Epidermolysis Bullosa, Acral Form.
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