A RARE CASE OF HYPOHIDROTIC ECTODERMAL DYSPLASIA

CT Ectodermal dysplasias constitute a rare group of genetic disorders primarily affecting tissues of ectodermal origin, including teeth, sweat glands, hair, and nails. These congenital conditions often present challenges in diagnosis and management. Hypohydrotic ectodermal dysplasia, also known as Christ–Siemens–Touraine syndrome, is the most common variant and follows an X-linked recessive inheritance pattern. This syndrome is characterized by a classic triad of reduced sweating, defective dentition, and hypotrichosis. We present a rare case of hypohydrotic ectodermal dysplasia involving an 18-year-old female patient. The patient exhibited the hallmark features of the disorder, including reduced sweating, defective dentition, and sparse hair. The diagnosis was established based on these distinctive clinical ndings. A multidisciplinary management plan has been developed to address the patient's unique needs and improve her quality of life. This case underscores the importance of early recognition and comprehensive management of hypohydrotic ectodermal dysplasia to optimize the long-term well-being of affected individuals. Further research is warranted to explore therapeutic interventions and genetic counselling for families at risk of this X-linked recessive disorder