S J Swetha
Gandhi Medical College and Hospital, India
Title: A case of bullous ichthyosiform erythroderma
Submitted Date:
Biography
S J Swetha has completed MBBS in the year 2010 from MNR medical college and hospital affiliated to Dr. NTR University of health sciences and completed post graduation MD DVL (Dermatology, Venereology and Leprology) in the year 2015 from SVS medical college and hospital affiliated to Dr. NTR University of health sciences. Currently, she is working as Senior Resident in department of DVL, Gandhi hospital, Telangana state and has presented many posters and papers in various national and state conferences in the last few years.
Abstract
Bullous congenital ichthyosiform erythroderma (BCIE) is an autosomally dominant inherited disorder characterized by erythematous, erosive, and bullous skin lesions over the entire body at birth and abnormal hyperkeratosis on the palmoplantar sufaces as the patient grows older. However, there is autosomal recessive inheritance and a high frequency of spontaneous mutations and as many as half the cases have no family history and represent new mutations. BCIE is caused by a mutation in the keratin 1 (K1) and/or keratin 10 (K10) genes, and most pathogenic mutations are found within the helix initiation and termination motifs of the central helical rod domain (K1 and K10) or the upstream H1 homology domain (K10). I herein report a typical sporadic case of BCIE in 12 year old boy with erythroderma, erosion, and blisters on the entire body surface and increase skin markings of palms and soles. Teeth, hair and nails are normal.