Zunich-Kaye syndrome

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Zunich-Kaye syndrome Classification and external resources
ICD-10	GroupMajor.minor
ICD-9	xxx
OMIM	280000
DiseasesDB	32624

Zunich-Kaye syndrome, also known as Zunich neuroectodermal syndrome, is a rare congenital ichthyosis first described in 1983.^[1] 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).^[2] It is a congenital^[3] syndrome with only a few cases studied and published.^[2]

Contents 1 Symptoms 2 Genetics 3 Treatment 4 References 5 Bibliography

[edit] 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.

[edit] 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.

[edit] Treatment

Treatment with isotretinoin may induce substantial resolution of skin lesions, but the risk of secondary infection remains.^[2]

[edit] References

[edit] Bibliography

• Schnur, R. E.; Greenbaum, B. H.; Heymann, W. R.; Christensen, K.; Buck, A. S.; Reid, C. S. : Acute lymphoblastic leukemia in a child with the CHIME neuroectodermal dysplasia syndrome. Am. J. Med. Genet. 72: 24-29, 1997. PMID 9295069
• Shashi, V.; Zunich, J.; Kelly, T. E.; Fryburg, J. S. : Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases. J. Med. Genet. 32: 465-469, 1995. PMID 7666399
• Zunich, J.; Esterly, N. B.; Holbrook, K. A.; Kaye, C. I. : Congenital migratory ichthyosiform dermatosis with neurologic and ophthalmologic abnormalities. Arch. Derm. 121: 1149-1156, 1985. PMID 4037840
• Zunich, J.; Esterly, N. B.; Kaye, C. I. : Autosomal recessive transmission of neuroectodermal syndrome. (Letter) Arch. Derm. 124: 1188-1189, 1988. PMID 3041916
• Zunich, J.; Kaye, C. I. : Additional case report of new neuroectodermal syndrome. (Letter) Am. J. Med. Genet. 17: 707-710, 1984. PMID 6711621

v • d • e Congenital malformations and deformations of integument (Q80-Q84, 757) Congenital ichthyosis Epidermolytic hyperkeratosis - Harlequin type ichthyosis - Ichthyosis lamellaris - Ichthyosis vulgaris - Netherton syndrome - X-linked ichthyosis - Zunich-Kaye syndrome Epidermolysis bullosa Epidermolysis bullosa simplex - Epidermolysis bullosa dystrophica Other skin disease Hereditary lymphedema - Mastocytosis - Meleda disease - Naegeli syndrome - Urticaria pigmentosa - Incontinentia pigmenti - Ectodermal dysplasia - EEM syndrome - Hay-Wells syndrome - Kindler syndrome - Port-wine stain - Cutis laxa - Darier's disease - Pseudoxanthoma elasticum - Keratosis pilaris DNA repair-deficiency disorder: Bloom syndrome - Rothmund-Thomson syndrome - Xeroderma pigmentosum Nail disease Leukonychia - Pachyonychia congenita Malformations of breast Amastia - Accessory breast - Athelia - Supernumerary nipple - Micromastia Hair disease Monilethrix - Sabinas brittle hair syndrome see also non-congenital (L, 680-709)