%0 Journal Article
%T EDSF (McGrath syndrome) – a rare variant of epidermolysis bullosa simplex
%V 10
%N 3
%P 281-283
%U http://www.odermatol.com/issue-in-html/2019-3-15-edsf/
%X Ectodermal Dysplasia Skin fragility syndrome (EDSF) is a rare autosomal recessive syndrome characterized by loss of function mutation in plakophilin 1 gene (PKP1). Around 20 cases of EDSF have been reported in literature with presentations of skin fragility, alopecia, palmoplantar keratoderma, hypohidrosis, nail dystrophy, cheilitis and few uncommon presentations. There are no diagnostic criteria for EDSF syndrome, patient with overlapping feature of ectodermal dysplasia and genetic blistering diseases are included in EDSF syndrome. We report a case of 11 months male infant admitted for pneumonia, with features of skin peeling over pressure sites since 2-3 months of age, along with sparse lustreless hair, absence of eyebrows and delayed dentition. The child was diagnosed as a case of EDSF syndrome.
%G en
%J Our Dermatology Online
%A Verma, Kuldeep
%D 2019-07-02