KID/HID syndrome

Definition:

Keratitis (and hystrix-like) ichthyosis deafness (KID/HID) syndrome is a rare congenital ectodermal dysplasia affecting the skin, hearing and vision. Cutaneous findings include red, thickened plaques with scaling that involve palms and soles. Sensorineural deafness or severe hearing impairment is often congenital. Corneal epithelium may be affected, manifesting as keratitis and photophobia. KID/HID syndrome is an autosomal dominant trait but most cases are sporadic. Recently, autosomal recessive KID syndrome (KIDAR) has been reported. KIDAR is caused by mutations in AP1B1.

References:

[1]. H Caceres-Rios, et al. Keratitis, ichthyosis, and deafness (KID syndrome): review of the literature and proposal of a new terminology. Pediatr Dermatol. 1996 Mar-Apr;13(2):105-13. [Content Brief]

[2]. Hessa S Alsaif, et al. Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome. Am J Hum Genet. 2019 Nov 7;105(5):1016-1022. [Content Brief]

[3]. I Todt, et al. Neurotological and neuroanatomical changes in the connexin-26-related HID/KID syndrome. Audiol Neurootol. 2006;11(4):242-8. [Content Brief]

[4]. J Mazereeuw-Hautier, et al. Keratitis-ichthyosis-deafness syndrome: disease expression and spectrum of connexin 26 (GJB2) mutations in 14 patients. Br J Dermatol. 2007 May;156(5):1015-9. [Content Brief]

[5]. K Langer, et al. Keratitis, ichthyosis and deafness (KID)-syndrome: report of three cases and a review of the literature. Br J Dermatol. 1990 May;122(5):689-97. [Content Brief]

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