Immune system disturbances in Clouston syndrome

Abstract

Background Clouston syndrome belongs to the family of ectodermal dysplasias. So far, a

Novel clinical features associated with Clouston syndrome

“…Heterozygous mutations in the gap junction beta 6 gene, ( GJB6 , OMIM #604418), which encodes the gap junction protein connexin 30 (Cx30), result in Clouston syndrome . Four heterozygous missense mutations (G11R, V37E, D50N, and A88V) account for the majority of Clouston syndrome cases . Herein, we describe a Venezuelan child who presented with a mild phenotype resulting from an A88V mutation, in GJB6, who demonstrates novel clinical features associated with Clouston syndrome expanding the phenotypic spectrum.…”

“…Clouston syndrome (OMIM #129500), also known as hidrotic ectodermal dysplasia type 2, is a rare autosomal dominant ectodermal dysplasia . It is characterized by a triad of major features that include partial to complete hair loss, severe nail dystrophy, and palmoplantar hyperkeratosis with varying degrees of severity . In affected individuals, the hair is pale, fine, sparse, and grows very slowly, and total alopecia may occur.…”

“…The eyebrows and eyelashes are absent or sparse and short. Nail abnormalities are characterized by thickened, ridged, hyperconvex nails, and paronychia is frequently reported . The teeth, sweat, and sebaceous glands are normal .…”

“…The teeth, sweat, and sebaceous glands are normal . Additional clinical features include sensorineural deafness, hyperpigmentation of the skin over large joints, and eccrine syringofibroadenoma (Table ) …”

“…Heterozygous mutations in the gap junction beta 6 gene, ( GJB6 , OMIM #604418), which encodes the gap junction protein connexin 30 (Cx30), result in Clouston syndrome . Four heterozygous missense mutations (G11R, V37E, D50N, and A88V) account for the majority of Clouston syndrome cases .…”