INTRODUCTION
Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder caused by mutations in one or more genes involved in embryonic ectodermal development that lead to hypohidrosis, hypodontia, and hypotrichosis.1 This disorder results from mutations in tumor necrosis factor-alpha (TNF-alpha) and ectodysplasin A (EDA) pathways.1 HED affects approximately 1 in 17,000 births and is most often X-linked, thus prevalence is higher in males.1 There is no cure for HED, so treatment is focused on managing symptoms and improving quality of life.
Clinical Features of a Hypohidrotic Ectodermal Dysplasia Patient
A 34-year-old African American male presented with a persistent rash on his face that began in childhood and had not changed. The rash was not painful, burning, or pruritic, but the patient complained of significant psychological distress due to the appearance. A physical exam revealed many monomorphic milia-like papules coalescing into plaques on the face with sparing of the perioral and periorbital regions (Figure 1). Additionally, there was sparse eyebrow and scalp hair and a prominent forehead. The patient declined a full-body skin exam but had no other dermatologic concerns and no other lesions were noted in the surrounding, observable areas.
Medical history was significant for HED and multiple dental implants. The patient used adapalene gel on the face nightly
Skin manifestations of HED can be particularly difficult to treat. Symptoms include dryness, ichthyosis, hypo- or hyperpigmentation, sparse and patchy hair, and milia-like papules that coalesce into plaques on the face.1 Milia-like eruptions in HED may be attributed to hypohidrosis, large sebaceous glands, or eruptive vellus hair cysts.2 Treatments are limited to keeping the skin cool by avoiding heat and applying topical moisturizers to help treat dry, pruritic skin.3
Clinical Features of a Hypohidrotic Ectodermal Dysplasia Patient
A 34-year-old African American male presented with a persistent rash on his face that began in childhood and had not changed. The rash was not painful, burning, or pruritic, but the patient complained of significant psychological distress due to the appearance. A physical exam revealed many monomorphic milia-like papules coalescing into plaques on the face with sparing of the perioral and periorbital regions (Figure 1). Additionally, there was sparse eyebrow and scalp hair and a prominent forehead. The patient declined a full-body skin exam but had no other dermatologic concerns and no other lesions were noted in the surrounding, observable areas.
Medical history was significant for HED and multiple dental implants. The patient used adapalene gel on the face nightly
