Literature DB >> 7224657

The keratitis, ichthyosis, and deafness (KID) syndrome.

B A Skinner, M C Greist, A L Norins.   

Abstract

We describe here a patient with ichthyosis, keratitis, deafness, and recalcitrant cutaneous bacterial and fungal infections, who was previously described as having hereditary hypohidrotic ectodermal dysplasia. Similarly affected patients described in the literature have the following features in common: (1) a distinctive ichthyosis characterized by a fine dry scale, follicular hyperkeratotic spines, and a reticulated pattern of hyperkeratosis on the palms and soles; (2) a vascularizing keratitis that results in notable visual impairment; and (3) neurosensory deafness. One half of the affected patients also display frequent, severe cutaneous infections. We suggest that the name "the KID syndrome" to emphasize the characteristic features of the syndrome-keratitis, ichthyosis, and deafness.

Entities:  

Mesh:

Year:  1981        PMID: 7224657

Source DB:  PubMed          Journal:  Arch Dermatol        ISSN: 0003-987X


  25 in total

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Review 5.  Neuroectodermal (CHIME) syndrome: an additional case with long term follow up of all reported cases.

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9.  Parallel mapping and simultaneous sequencing reveals deletions in BCAN and FAM83H associated with discrete inherited disorders in a domestic dog breed.

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Journal:  PLoS Genet       Date:  2012-01-12       Impact factor: 5.917

10.  Keratitis-Ichthyosis-Deafness syndrome: A rare congenital disorder.

Authors:  Vinay Shanker; Mudita Gupta; Aditi Prashar
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