Congenital Migratory Ichthyosis with Neurologic and Ophthalmologic Abnormalities
In 1985, Zunich and associates  reported on two unrelated children displaying an identical complex phenotype. Though no further cases have been described so far, I believe that these two children represent a distinct syndrome. Clinically, the ichthyosis has some resemblance to the peeling-skin syndrome, type B. As in peeling-skin syndrome, type B, there was congenital ichthyotic erythroderma, pruritus, migratory scaling, and regions where the upper layer of the stratum corneum was detached and peeled off. However, in addition to these cutaneous features, both children exhibited facial dysmorphism, retinal colobomas, and abnormalities in spacing, size, and number of teeth. Brachydactyly and a broad second toe were noted. The neurologic involvement was characterized by a conductive hearing loss, psychomotor delay, wide-based gait, and autistic mannerisms. Moreover, both children developed seizures which were triggered by fever. Histologic studies disclosed orthohyperkeratosis, a well-preserved granular layer, and acanthosis with plump, confluent rete ridges. An ultrastructural examination revealed a shell-like formation of tonofilaments attached to keratohyalin granules around the nucleus, a finding reminiscent of epidermolytic hyperkeratosis. Dermal nerves showed a disorganization of myelin.