Two sisters with recessive dystrophic epidermolysis bullosa caused by novel variants in COL7A1
Year: 2024
Type: article
Abstract: To the Editor, There is a broad phenotypic and severity spectrum in dystrophic epidermolysis bullosa (DEB) caused by COL7A1 mutation, and the expression level and residual function of COL7A1 in patients with DEB are inversely correlated with phenotypic severity.1,2 To date, there are more than 800 mutations in DEB. 3 Here, we report two young sisters with two novel heterozygous variants which had not been previously reported, presenting with clinical phenotype of recessive DEB (RDEB), localized.The proband was a 20-year-old Chinese female.She suffered a 20year history of intense cutaneous pruritus, skin blistering, erosion, and ulceration on her hands and feet, alongside dystrophy of nails since infancy.Her younger sister had similar experiences, with very mild involvement of her elbows and lower limbs.They were born during a normal pregnancy and delivery with non-consanguineous parents, and both had normal physical development without obvious mucous membrane affected.They had no family history of any bullous disorders.F I G U R E 1 Clinical manifestation of non-twin RDEB sisters with skin blistering often triggered by minimal friction or trauma.Skin and nail dystrophy, crust, scarring, and hypopigmented spot were found on the hands of this proband (A) and her younger sister (B).(C) A loosening bulla on the wrist of the proband.Nail dystrophy or even the absence of toenails in the proband (D) and her younger sister (E).(F) Scattered lesions of lichenified, violaceous plaques, and scarring around her sister's knees and below were observed.RDEB, recessive DEB.
Source: Skin Research and Technology
DOI: 10.1111/srt.13779
Authors: Mandi Zhou, Zhixin Zheng, Jinglei Teng, Chao Yang, Ming Zeng
Language: English
Subfield: Cell Biology
Domain: Life Sciences
Open Access status: hybrid
Estimated APC paid: $2,770
Awards: G1576897781, G4683620098
OpenAlex ID: W4399383948