Case reportĀ
A 15-year-old male was born to unaffected, second degree consanguineous
parents. He was referred to our outpatient departement for palmoplantar
keratoderma evolving over the last few months. During the childhood, his
hair was light colored and coarse. He began to lose it since his teenage
years. He also complains of heat intolerance and a reduced ability to
sweat. The patient had dental prosthesis due to caries and dental
malformation. A cleft palate was repaired in childhood. A
dacryocystorhinostomy and a nephrectomy were practiced too. There was no
history of similar cases in the family.
On physical examination, the patient measured 161 cm in height. We
noticed diffuse bilateral palmoplantar keratoderma with palmoplantar
pits. Bilateral ulcerations covered by thick and honey-colored crusts
with underlying erythema were observed on the palms and mainly on the
carpus (Fig.1) .
He also demonstrated a striking facial morphology consisting of a
frontal bossing, a short philtrum, a thin upper lip, a mildly dysmorphic
auricles and prognathism (Fig.2) . Skin was dry with discrete
scaling. An occasional light-colored, wiry hair was found on an
otherwise alopecic scalp. His eyebrows and eyelashes were scarce.
All his nails were dysplastic. They were narrow and small with pterygium
and longitudianl ridging (Fig.3 ).
In view of hypohidrotic ectodermal dysplasia associated with orofacial
clefting, genitourinary abnormalities, hypodontia, hair involvement and
lacrimal duct anomaly, the diagnosis of RHS was made.