Christ–Siemens–Touraine syndrome with palmoplantar keratoderma: A rare association

Abstract

Christ–Siemens–Touraine syndrome is a form of anhidrotic ectodermal dysplasia (ED) characterized by triad of hypodontia, hypotrichosis, and hypohidrosis. Palmoplantar keratoderma is a characteristic feature of hidrotic forms of ED. Till date, only two cases have been reported of Christ–Siemens–Touraine syndrome with palmoplantar keratoderma; here we report a similar case emphasizing this rare association.

An unusual manifestation of X‐linked hypohidrotic ectodermal dysplasia with palmoplantar keratoderma

“…It is an autosomal dominant condition most often linked to heterozygous mutations in GJB6, gap junction beta‐6 protein (Connexin 30) . However, a literature search revealed only four reports of palmoplantar keratoderma in HED . Only one of these had genetic testing reported, confirming XHED in a Mexican family, with a missense mutation c.409T>C in the EDA gene, resulting in the amino acid substitution p(Leu56‐Pro), different to the mutation found in our patient.…”

Rapp-Hodgkin Syndrome with palmoplantar keratoderma

“…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)(9)(10). It is considered an uncommon manifestation of Hidrotic ED.…”

Palmoplantar keratoderma: An unusual manifestation of hypohydrotic ectodermic dysplasia

“…7 However, a literature search revealed only five reports of palmoplantar keratoderma in hypohidrotic ED. [8][9][10] It is considered an uncommon manifestation of Hidrotic ED. Ulcerations on the palms as in our patient are not common in RHS.…”

“…It is 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.…”