Hidrotic ectodermal dysplasia: A classical case

An 18-year-old girl presented with hair loss, thick nails, and hyperkeratotic plaques on the soles since childhood. There was no positive family history. On examination, the hair on the scalp, eyebrow, eyelashes, and body was thin, sparse, and brittle [Figure 1a and b]. The palms were normal, and the soles had circumscribed keratoderma plaques at pressure points on the sole [Figure 1c and d]. Nails were thick, brittle, and yellowish in color [Figure 1e and f]. Teeth and nose were normal, and there was normal sweating. Based on these clinical findings, hidrotic ectodermal dysplasia (HED) was diagnosed in our case.

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Figure 1:

(a and b) Brittle, sparse, hair on scalp, eyebrow, and eyelash with normal shape of nose, (c and d) palms normal and circumscribed keratoderma in soles at pressure points, and (e and f) thick, brittle, yellow to brown nails.

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Ectodermal dysplasia is a rare genetic disorder that affects at least two ectodermal derivatives, including hair, teeth, nails, and some glands.^[1] The cardinal symptoms of HED (Clouston syndrome) include nail dystrophy, hair loss (partial to complete baldness), and palmoplantar hyperkeratosis with normal teeth and sweating.^[2] Its differential diagnosis is Pachyonychia congenita, which is distinguished by thick dystrophic discolored nails with subungual hyperkeratosis, painful palmoplantar keratoderma on the hands and feet, oral leukokeratosis, follicular keratosis, cysts, and hair loss.