Hypohidrotic ectodermal dysplasia: a case report.

UNLABELLED

Hypohidrotic ectodermal dysplasia (HED) is a rare heterogeneous genetic congenital disorder affecting at least 1 in 5000-10,000 newborns. This disorder has a wide range of clinical manifestations; it affects organs originating from the embryonic ectoderm.

CASE PRESENTATION

We present a case of a 2-year-old boy diagnosed with HED, the boy was suffering from absence of sweating since birth, dry skin, recurrent episodes of hyperpyrexia, sparse and light-colored hair on the scalp, absent eyebrows, and delayed eruption of abnormally shaped teeth.

CLINICAL DISCUSSION

The are no diagnostic criteria guidelines for HED, we diagnosed the disorder by the clinical manifestations and the family history. The management of patients with HED is palliative.

CONCLUSION

This disorder needs multidisciplinary contribution to improve the general health of those patients, quality of life, and decrease morbidity and mortality.