title: Ectodermal dysplasia-skin fragility syndrome.
abstract: Ectodermal dysplasia-skin fragility (EDSF) syndrome is a rare and first described inherited disorder of desmosomes. It occurs due to loss-of-function mutations in PKP1 gene resulting in poorly formed desmosomes and loss of desmosomal and epidermal integrity. We report a case of a 2-year-old Indian male child who presented with palmoplantar hyperkeratosis with fissuring, short, sparse, and easily pluckable scalp hair, nail dystrophy, and multiple erosions over the skin. Skin biopsy showed epidermal hyperplasia with widening of intercellular spaces. His developmental milestones were delayed but intelligence was normal. Echocardiography, X-ray chest, and electrocardiogram were normal. Very few cases of this syndrome have been reported in the literature. We consider this as the first case report from India.
authors: Department of Dermatology, Seth GS Medical College and King Edward Memorial Hospital, Mumbai, Maharashtra, India. drvijay061@gmail.com
authors: Vijay S
authors: VS
authors: Adhe
authors: Atul M
authors: AM
authors: Dongre
authors: Uday S
authors: US
authors: Khopkar
mesh_terms: D002675:Child, Preschool; D004476:Ectodermal Dysplasia / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D008297:Male; D051191:Plakophilins / Q000235:genetics*; D012871:Skin Diseases / Q000175:diagnosis* / Q000235:genetics*
chemical_list: C495335:PKP1 protein, human; D051191:Plakophilins