Dermoscopy deduced “neither pilus nor pores”: Christ-siemens-touraine syndrome: A case report

• Main Authors: Priyanka Suresh Jaju, Mahajabeen Madarkar, Balachandra S Ankad, Aakash Gupta
• Format: Article
• Language: English
• Published: Wolters Kluwer Medknow Publications 2020-01-01
• Series: Indian Journal of Paediatric Dermatology
• Subjects: christ-siemens-touraine syndrome; dermoscopy; ectodermal dysplasia; genetics; pediatric dermatology
• Online Access: http://www.ijpd.in/article.asp?issn=2319-7250;year=2020;volume=21;issue=3;spage=224;epage=228;aulast=Jaju

Ectodermal dysplasia (ED) is used to define a group of inherited disorders characterized by the presence of abnormalities in two or more ectodermal derived structures, including hair, teeth, nails, or sweat glands. A 2-month-old boy presented with complaints of reduced scalp hair growth and loss of eyebrows since birth. He had a history of recurrent high fever and had been admitted twice for the same. Clinical examination of the patient revealed a fine, sparse, light-colored, short and dry hair over the scalp, with the absence of eyebrows, and eyelashes. The skin was smooth, dry with a prominent forehead and protuberant lips. Growth and developmental history were not significant. Trichoscopy showed absence or markedly reduced number of white dots. It corresponded to a finding of hypoplastic follicles with the absence of eccrine and sebaceous glands; these findings were consistent with histopathology. Dermoscopy is a noninvasive technique which aids in the clinical diagnosis of Christ-Siemens-Touraine syndrome by correlating clinical features histopathologically.