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Epidermolysis Bullosa with Congenital Absence of Skin: A Report of Two Cases

Year: 2025

Type: article

Abstract: Epidermolysis bullosa (EB) with congenital absence of skin, also known as aplasia cutis congenita (ACC) type VI, is characterized by congenital localized absence of skin, nail abnormalities, and blistering of the skin and mucosa. ACC is classified based on the location and pattern of the absence of skin, the presence of associated malformations, and the mode of inheritance. We report two sporadic cases of EB with congenital absence of skin who presented with blistering of the skin and mucosa, localized absence of skin, and nail dystrophy without systemic involvement. The first case succumbed to the disease, whereas the second case survived with conservative management.

Source: Clinical Dermatology Review

DOI: 10.4103/cdr.cdr_85_24

Authors: Trishala Shirahatti, H. Bangaru, Sathish Shankar, Rithu Manoj, Amruta Shirahatti

Institutions: St.John's Medical College Hospital, Mysore Medical College, Mahatma Gandhi Mission Medical College and Hospital

Language: English

Topic: Skin and Cellular Biology Research

Subfield: Cell Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: diamond

OpenAlex ID: W4407872455

FWCI:

Cites: 9

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Related to: 10