Summary
Zunich-Kaye syndrome is characterized by early-onset migratory ichthyosiform dermatosis, bilateral ocular coloboma, conductive hearing loss, seizures, intellectual deficit, and characteristic facial features: brachycephaly, mild upslanting of the palpebral fissures, pale blue irides, hypertelorism, flat midface and philtrum, anteverted nostrils, thin upper lip and excessive creases around a wide mouth. Ears are low-set with thick overfolded helices. Teeth are widely spaced and square in shape. Less constant findings are cleft palate or a less severe equivalent (bifid uvula and/or submucous cleft), cardiac defects (tetralogy of Fallot or transposition of the great vessels), pectus excavatum and supernumerary nipples. The acronym CHIME was proposed for the Zunich-Kaye syndrome: Colobomas of the eye, Heart defects, Ichthyosiform dermatosis, Mental retardation, and Ear defects or Epilepsy. Zunich-Kaye syndrome has been reported in six children (two girls and four boys), two of whom were brothers, and one of whom was Amish. The most recently reported case involved a child who developed acute lymphoblastic leukemia at the age of 4.5 years. In addition to the classical signs of the syndrome, she also had infantile macrosomia, and a duplicated renal collecting system. Histological examination of the skin revealed the presence of an epidermal nevus, hyperkeratosis, and a marked thickening of the granular layer. The etiology is unknown but the syndrome is presumed to be an autosomal recessive disorder. Ichthyosis and neurologic abnormalities, including seizures and intellectual deficit, are features of several genetic syndromes. Although there is some overlap in the clinical features, certain characteristics help to distinguish one disorder from another. Accurate diagnosis of this syndrome is important because of the potential for associated congenital heart disease, neurological compromise, possible association with malignancy and familial recurrence. Treatment with isotretinoin may induce substantial resolution of skin lesions, but the risk of secondary infection persists. Long-term follow-up has provided information regarding the outcome for these patients. The outcome includes general good health, severe intellectual deficit, seizures that worsen after puberty and chronic migratory ichthyosiform skin rash without scarring. *Author: Orphanet (August 2005)*.
