Indian Journal of Paediatric Dermatology

CASE REPORT
Year
: 2020  |  Volume : 21  |  Issue : 3  |  Page : 221--223

Report of an autosomal recessive epidermolytic ichthyosis


KS Chandan, SR Ashitha, Sachin Somashekhar, L Shishira 
 Department of DVL, Bangalore Medical College and Research Institute, Bengaluru, Karnataka, India

Correspondence Address:
Dr. K S Chandan
Department of DVL, Bangalore Medical College and Research Institute, Bengaluru, Karnataka
India

Epidermolytic ichthyosis (EI) previously named bullous congenital ichthyosiform erythroderma of Brocq or epidermolytic hyperkeratosis (mostly considered as a histological term now) is rare with a variable defect of cornification, clinically characterized by generalized erythema, erosions, scaling, and easily breaking blisters that become less frequent later in life while hyperkeratosis increases. It is usually inherited in an autosomal-dominant fashion and is caused by the mutations in the genes KRT1 and KRT10, coding for the proteins keratin 1 and keratin 10, respectively. To date, only six recessive KRT10 mutations have been shown to cause autosomal-recessive EI, all of which have been found to lead to the complete absence of the keratin 10 protein. To the best of our knowledge, this is the first such case report from India.


How to cite this article:
Chandan K S, Ashitha S R, Somashekhar S, Shishira L. Report of an autosomal recessive epidermolytic ichthyosis.Indian J Paediatr Dermatol 2020;21:221-223


How to cite this URL:
Chandan K S, Ashitha S R, Somashekhar S, Shishira L. Report of an autosomal recessive epidermolytic ichthyosis. Indian J Paediatr Dermatol [serial online] 2020 [cited 2020 Sep 22 ];21:221-223
Available from: http://www.ijpd.in/article.asp?issn=2319-7250;year=2020;volume=21;issue=3;spage=221;epage=223;aulast=Chandan;type=0