Generalized Epidermolysis Bullosa Simplex, Dowling Meara in Saudi Family, Case Report and Review of Literature, Saudi Arabia 2017-2018
Journal Title: International Journal of Medical Research Professionals - Year 2018, Vol 4, Issue 1
Abstract
A 4 years old Saudi girl, her neonatal period was characterized, since first 2 days of life by nails dysplasia and yellow pigmentation then progress to well demarcated, Serous and hemorrhagic, vary in size blisters. That improved gradually with age. The blisters started from the nails which lead to nail shedding, extremities then became generalized. Dermatological examination revealed multiple herpetiform hemorrhagic blisters and erosive lesions, slight scars and milia mainly on palm and sole. There is a history of similar skin lesion in his father. Confirmation of genetic mutation in KRT14 gene.
Authors and Affiliations
Bedoor A Fallatah, Osamah M Al-shareef
Keywords
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- EP ID EP531034
- DOI 10.21276/ijmrp.2018.4.1.097
- Views 88
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