A Case of Hypohidrotic Ectodermal Dysplasia in a 1-Year Old Filipino Male

Abstract

Introduction: Hypohidrotic Ectodermal Dysplasia (HED) is the most common Ectodermal Dysplasia, a group of rare, inherited multisystemic disorders exhibiting developmental aberrations in ectodermal structures including the hair, teeth, nails, and sebaceous and sweat glands. HED is commonly X-linked, presenting with abnormalities of the hair and teeth accompanied by inability to sweat. This case report aims to present a case of X-linked HED in a 1-yearold Filipino male. Case Report: A 1-year-old Filipino male presented with reduced sweating since birth and heat intolerance. He had scalp and facial papules, slowly growing, sparse eyebrow and scalp hair, periorbital wrinkling with hyperpigmentation, everted lips, frontal bossing, absent tooth, and negative palmoplantar starchiodine test. Maternal male relatives had similar symptoms while females had little to no symptoms. He was diagnosed with HED. Skin punch biopsy with immunohistochemistry showed absence of eccrine glands on the plantar skin, which strengthened the diagnosis. Management of symptoms was mainly supportive and involved multidisciplinary collaboration with Pediatrics, Otorhinolaryngology, Dentistry, and Nutrition and Dietetics. Conclusion: This report underscores the critical role of Dermatologists in identifying key clinical signs of HED, which primarily relies on clinical assessment. A high level of suspicion is warranted when abnormalities in hair, teeth, and sweating are evident. It is crucial to consider other potential features in patients with symptoms of hypotrichosis, hypodontia and hypohidrosis, due to the varied manifestations of the disease. Early detection, comprehensive supportive treatment, and patient education are vital for improving the quality of life for those affected by HED.