X-linked anhidrotic/hypohidrotic ectodermal dysplasia (XLHED), also known as Christ-Siemens-Touraine syndrome, is a rare genetic disorder characterized by the abnormal development of ectodermal structures, primarily affecting sweat glands, hair, and teeth. It results from mutations in the Ectodysplasin A (EDA) gene. Clinically, the classic triad of hypohidrosis, hypotrichosis, and hypodontia or anodontia forms the diagnostic hallmark. Herein, we report a case of a 19-year-old male who presented generalized dryness of skin, heat intolerance, and inability to sweat since early childhood. On examination, the patient appeared lean, with a striking facies characterized by frontal bossing, a depressed nasal bridge (saddle nose), prominent lips, and periorbital and peri-oral wrinkling, giving an aged appearance. Oral examination revealed oligodontia, with two conical-shaped maxillary anterior teeth. As genetic testing is not available in Nepal, the diagnosis for this patient relied upon family history, typical clinical features, and supportive ancillary investigations such as orthopantomogram to identify hypodontia, anodontia, and/or iodine starch test to demonstrate the reduced or absent sweat gland function. The management of this patient largely relied on providing symptomatic aid and improving his quality of life via functional restoration. A multidisciplinary team work formed the fundamental basis of management for this patient.
Chapagain et al. (Fri,) studied this question.