Zunich-Kaye syndrome, also known as Zunich neuroectodermal syndrome, is a rare congenital ichthyosis first described in 1983. It is also referred to as CHIME syndrome, after its main symptoms (colobomas, heart defects, ichthyosiform dermatosis, mental retardation, and either ear defects or epilepsy). It is a congenital syndrome with only a few cases studied and published.

Symptoms

Associated symptoms range from things such as colobomas of the eyes, heart defects, ichthyosiform dermatosis, mental retardation, and ear abnormalities. Further symptoms that may be suggested include characteristic facies, hearing loss, and cleft palate.

Genetics

Zunich-Kay syndrome is considered to have an autosomal recessive inheritance pattern. This means the defective gene is located on an autosome, and two copies of the gene, one from each parent, are required to inherit the disorder. The parents of an individual with autosomal recessive disorder both carry one copy of the defective gene, but usually do not have the disorder.

Treatment

Treatment with isotretinoin may induce substantial resolution of skin lesions, but the risk of secondary infection remains.

References

Bibliography

• Schnur RE, Greenbaum BH, Heymann WR, Christensen K, Buck AS, Reid CS (1997). "3.0.CO;2-V>Acute lymphoblastic leukemia in a child with the CHIME neuroectodermal dysplasia syndrome". Am. J. Med. Genet. 72 (1): 24–9.
• Shashi V, Zunich J, Kelly TE, Fryburg JS (1995). "Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases". J. Med. Genet. 32 (6): 465–9.
• Zunich J, Esterly NB, Holbrook KA, Kaye CI (1985). "Congenital migratory ichthyosiform dermatosis with neurologic and ophthalmologic abnormalities". Arch Dermatol 121 (9): 1149–56.
• Zunich J, Esterly NB, Kaye CI (1988). "Autosomal recessive transmission of neuroectodermal syndrome". Arch Dermatol 124 (8): 1188–9.
• Zunich J, Kaye CI (1984). "Additional case report of new neuroectodermal syndrome". Am. J. Med. Genet. 17 (3): 707–10.