Annals of Medicine and Surgery · 3 authors, 2 centres
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This case report describes a 2-year-old boy with hypohidrotic ectodermal dysplasia (HED) presenting with absence of sweating, dry skin, recurrent hyperpyrexia, sparse hair, absent eyebrows, and delayed eruption of abnormally shaped teeth. Diagnosis was based on clinical features and family history, as no diagnostic criteria guidelines exist for HED. The case highlights the need for multidisciplinary palliative management to improve quality of life and reduce morbidity and mortality.
**Background:** Hypohidrotic ectodermal dysplasia (HED) is a rare heterogeneous genetic congenital disorder affecting at least 1 in 5000–10,000 newborns. It is the most common type of ectodermal dysplasia, characterized by defects in the development of hair, teeth, and exocrine glands. Clinical manifestations include hypodontia or anodontia, hypotrichosis, and hypohidrosis. HED can be X-linked, autosomal dominant, or autosomal recessive, with mutations in EDA, EDAR, or EDARADD genes. There are no established diagnostic criteria guidelines for HED.
**Methods:** This is a case report of a 2-year-old boy brought to a clinic in Syria by his consanguineous parents. The chief complaint was absence of sweating since birth, dry skin, recurrent episodes of hyperpyrexia, and delayed eruption of abnormally shaped teeth. The child had one 4-year-old brother with similar complaints and two healthy sisters. Physical examination, laboratory tests (complete blood count, TSH, T3, T4, urine analysis, cortisol), and skull X-ray were performed. Diagnosis was based on clinical features and family history.
**Key Results:** Physical examination revealed sparse, light-colored, fragile hypopigmented scalp hair; absent eyebrows; scanty eyelashes; fully everted lips; depressed nasal bridge; dry, warm, scaly, sensitive, and excoriated skin. Intraoral examination showed no mandibular teeth and maxillary hypodontia with only two small, widely spaced conical teeth. Laboratory tests were normal except for a slight lack of cortisol. Skull X-ray was normal. Based on history and clinical features, the child was diagnosed with HED.
**Clinical Implications:** This is the second reported case of HED in Syria. Management is palliative, focusing on avoiding physical exertion and sun exposure, treating infections promptly, using moisturizers, monitoring vitamin D levels, controlling body temperature with showers and cold drinks, eating liquid food, and using antihistamines or corticosteroids as needed. Dental abnormalities should be corrected prosthetically. The case underscores the importance of recognizing dermatological manifestations in conjunction with systemic symptoms and family history for diagnosis. Multidisciplinary care is essential to improve general health, quality of life, and reduce morbidity and mortality.