FaCD Online Syndrome Fact Sheet

Last updated: 10 Mar 2008

Name: Keratitis, Ichthyosis and Deafness syndrome

Synonym: KID syndrome

Mode of Inheritance: AD

Genes

GJB2, mapped to 13q11-q12

Tumor features

proliferating pilar tumor /malignant trichilemmoma
skin cancer, squamous cell
tongue cancer
trichilemmoma

Tumor features (possible)

malignant fibrous histiocytoma
skin, eccrine poroma (malignant)

Non-tumor features

alopecia
anhidrosis / hypohidrosis
dental abnormalities
erythrokeratoderma
hearing loss, neurosensory
ichthyosis
nails, dystrophic
oropharyngeal leukoplakia
palmoplantar hyperkeratosis
vascularizing keratitis

Comment

This disorder belongs to the group of ectodermal dysplasia and is characterized by erythrokeratoderma, palmoplantar hyperkeratosis, alopecia, vascularizing keratitis (which may lead to blindness) and neurosensory deafness. Caceres-Rios et al.[1] reviewed the literature on KID, stressing that the KID acronym is inaccurate because the disorder is not truly an ichthyosis.

Squamous cell cancer (some in children) of the tongue and skin have been reported in KID.[1-4]. Malignant pilar tumors (malignant trichilemmomas) have been reported as well [5,6]. In one patient with KID a malignant fibrous histiocytoma has been diagnosed[7].

References

[1] Caceres-Rios H, Tamayo-Sanchez L, Duran-Mckinster C, de la Luz Orozco M, Ruiz-Maldonado R. Keratisis,Ichthyosis,and deafness (KID syndrome): review of the literature and proposal of a new terminology. Pediatr Dermatol 1996; 13(2):105-113.
[2] Conrado LA, Marques SA, Lastoria JC, Cucé LC, Marques ME, Dillon NL. Keratitis-ichthyosis-deafness (KID) syndrome with squamous cell carcinoma. International journal of dermatology 2007; 46(4):403-6.
[3] Madariaga J, Fromowitz F, Phillips M, Hoover HC. Squamous cell carcinoma in congenital ichthyosis with deafness and keratitis. A case report and review of the literature. Cancer 1986; 57(10):2026-9.
[4] Grob JJ, Breton A, Bonafe JL, Sauvan-Ferdani M, Bonerandi JJ. Keratitis, ichthyosis, and deafness (KID) syndrome. Vertical transmission and death from multiple squamous cell carcinomas. Archives of dermatology 1987; 123(6):777-82.
[5] Kim KH, Kim JS, Piao YJ, Kim YC, Shur KB, Lee JH, Park JK. Keratitis, ichthyosis and deafness syndrome with development of multiple hair follicle tumours. The British journal of dermatology 2002; 147(1):139-43.
[6] Nyquist GG, Mumm C, Grau R, Crowson AN, Shurman DL, Benedetto P, Allen P, Lovelace K, Smith DW, Frieden I, Hybarger CP, Richard G. Malignant proliferating pilar tumors arising in KID syndrome: a report of two patients. American journal of medical genetics. Part A 2007; 143(7):734-41.
[7] Carey AB, Burke WA, Park HM. Malignant fibrous histiocytoma in keratosis, ichthyosis, and deafness syndrome [letter]. J Am Acad Dermatol 1988; 19(6):1124-1126.