Pediatr Dermatol. 1998 May-Jun;15(3):219-21.

Keratitis, ichthyosis, and deafness (KID) syndrome in half sibs.

Koné-Paut I, Hesse S, Palix C, Rey R, Rémédiani K, Garnier JM, Berbis P.

Source

Department of Pediatrics, Hôpital Nord, Marseilles, France.

Abstract

The keratitis, ichthyosis, and deafness (KID) syndrome is a rare congenital disorder of the ectoderm characterized by diffuse hyperkeratotic erythroderma, keratitis with neovascularization of the cornea, and severe neurosensory hearing loss. A familial occurrence of this syndrome has been mentioned in four reports including three of vertical transmission and one of two affected sisters born from consanguineous, unaffected parents. We report for the first time a familial case of KID syndrome in two half siblings born to the same unaffected mother. This new observation allows us to propose various hypotheses about its mode of inheritance.

Comment in

Pediatr Dermatol. 1999 Mar-Apr;16(2):164-5.

PMID:: 9655320; [PubMed - indexed for MEDLINE]

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[Patient with severe corneal disease in KID syndrome]. [Arch Soc Esp Oftalmol. 2006]
[Patient with severe corneal disease in KID syndrome].
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Review Keratitis, ichthyosis, and deafness (KID syndrome): review of the literature and proposal of a new terminology.
Caceres-Rios H, Tamayo-Sanchez L, Duran-Mckinster C, de la Luz Orozco M, Ruiz-Maldonado R. Pediatr Dermatol. 1996 Mar-Apr; 13(2):105-13.
Review Keratitis, ichthyosis and deafness (KID)-syndrome: report of three cases and a review of the literature. [Br J Dermatol. 1990]
Review Keratitis, ichthyosis and deafness (KID)-syndrome: report of three cases and a review of the literature.
Langer K, Konrad K, Wolff K. Br J Dermatol. 1990 May; 122(5):689-97.

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Cited by 1 PubMed Central article

Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. [Am J Hum Genet. 2002]
Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.
Richard G, Rouan F, Willoughby CE, Brown N, Chung P, Ryynänen M, Jabs EW, Bale SJ, DiGiovanna JJ, Uitto J, et al. Am J Hum Genet. 2002 May; 70(5):1341-8. Epub 2002 Mar 22.

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