Junctional Epidermolysis Bullosa (Non-Herlitz Type)

• Published in: Journal of the College of Physicians and Surgeons--Pakistan Vol. 27; no. 5; pp. 308 - 310
• Main Authors: Bhinder, Munir Ahmad, Arshad, Muhammad Waqar, Zahoor, Muhammad Yasir, Shehzad, Wasim, Tariq, Muhammad, Shabbir, Muhammad Imran
• Format: Journal Article
• Language: English
• Published: Pakistan College of Physicians and Surgeons Pakistan 01-05-2017
• Subjects: Blister - etiology; Blister - pathology; Care and treatment; Child; Child, Preschool; Consanguinity; Epidermolysis bullosa; Epidermolysis Bullosa, Junctional - genetics; Epidermolysis Bullosa, Junctional - pathology; Genetic aspects; Humans; Male; Skin - pathology
• ISSN: 1022-386X; 1681-7168

Junctional epidermolysis bullosa (JEB) is a recessively inherited skin blistering disease and is caused due to abnormalities in proteins that hold layers of the skin. Herlitz JEB is the severe form and non-Herlitz JEB is the milder form. This report describes a case of congenitally affected male child aged 5 years, with skin blistering. He has mitten-like hands and soft skin blistering on hands, legs and knees. Symptoms almost disappeared at the age of 3 years but reappeared with increased severity after 6 months. Histopathological examination showed epidermal detachment with intact basal cell layer and sparse infiltrate of lymphocytes with few eosinophils in the dermis. There was no blistering on the moist lining of the mouth and digestive tract. Localized symptoms with less lethality and histopathological examination indicated the presence of non-Herlitz type of JEB. This is the first report which confirms the presence of non-Herlitz junctional epidermolysis bullosa in Pakistan.