Ichthyosiform Erythroderma, Corneal Involvement, And Deafness

Clinical Features

Desmons et al. (1971) described 3 sibs with ichthyosiform erythroderma and deafness among the 6 children of a first-cousin marriage. Corneal involvement, which is frequent in sporadic cases, was not noted by Desmons et al. (1971); on the other hand, all 3 sibs showed hepatomegaly, hepatic cirrhosis, and glycogen storage in middle age. Other reported cases had not reached middle age. Cremers et al. (1977) described the isolated case of a female and identified 8 patients, apparently with the same disorder, reported in the literature.

Wilson et al. (1991) reported a single case with similar features. The patient had progressive cirrhosis necessitating liver transplantation and in addition had short stature and mental retardation. They suggested that there may be both a recessive form represented by these cases, and an autosomal dominant form (148210) represented by the 2 families with vertical transmission (father-daughter reported by Grob et al. (1987) and mother-daughter reported by Nazzaro et al. (1990)) and 28 sporadic cases in which the sex ratio is equal. In the autosomal dominant form, hepatic disease, growth failure, and mental retardation are not features, and mutations have been identified in the connexin-26 gene (GJB2; 121011). Molecular studies may resolve the question of the relationship between autosomal dominant and autosomal recessive KID syndrome.

Jurecka et al. (1985) found epidermal glycogen deposition in a patient who may have represented the recessive form.