Discussion
RHS is considered one of the groups of disorders categorized by findings of ectodermal dysplasia and clefting. It’s generally inherited in an autosomally dominant fashion but sporadic mutations do occur as in our case (3). There is increasing evidence that symptoms of RHS are caused by defects in the transcription factor p63 (4).
The palate, hair, eyes and nails are the four areas particularly affected (1). Cleft palate is the cardinal feature of this syndrome (1,5). Our patient’s cleft palate was repaired in childhood.
Patients commonly had blond coarse, wiry, woolly, fine, dry, slowly growing, short hair or hypotrichosis. They showed stiff, uncombable, brittle and kinky hair with a “steelwool appearance”, breaking by combing, furthermore lusterless, soft, thick or thin hair (4). Hair loss at puberty is also a reported characteristic (6). This feature was observed in our patient and he is now alopecic with a few fragile, sparse hairs. The craniofacial features, including high forehead, narrow nose, thin upper lip and hypoplastic maxilla, with a high arched palate seem to be typical for this ED syndrome (4). Hypodontia and malformation are frequently observed in RHS leading to esthetic and psychological problems (4). There are good possibilities using removable prostheses to help these children. Patients commonly had onychodysplasia and hypoplastic nails (5), as reported in our patient.
Hidrotic ED, the most common form of ED, occurs in ~1 in 5000–10 000 births. Our patient had an hidrotic ED with bilateral palmoplantar keratoderma and occasional ulcerations on the palms. Palmoplantar keratoderma is a common but not universal feature of hidrotic ED which increases in severity with age (6). It’s most often linked to heterozygous mutations in GJB6, gap junction beta-6 protein (Connexin 30) (7). However, a literature search revealed only five reports of palmoplantar keratoderma in hypohidrotic ED (8–10). It is considered an uncommon manifestation of Hidrotic ED. Ulcerations on the palms as in our patient are not common in RHS. O’Donnell BP et al reported the case of a 24-year-old woman with RHS, she had occasional bilateral ulceration on the palms too (11).