Severe Phenotype of Keratitis–Ichthyosis–Deafness Syndrome With Presumed Ocular Surface Squamous Neoplasia

Abstract

KID syndrome is a very rare disease that has been reported with an incremental incidence of squamous cell carcinoma of the mucous membranes and skin (12%-15%). Here, we presented a case of severe systemic KID syndrome with ocular surface squamous neoplasia.

Clinical, etiopathogenic, and therapeutic aspects ofKIDsyndrome

“…This hereditary cornification disorder is of unknown prevalence, and to date, 100 cases of KID syndrome have been reported in the literature. 3,6,7,11,14 Inheritance is usually sporadic, but some familial forms have been reported with autosomal dominant and recessive transmission pattern. 1,3,4,6,7,10,14 KID syndrome is genetically heterogeneous and in the most cases are caused by heterozygous germline missense mutation in GJB2 gene, [1][2][3][4][5][6][7]11 which encode the closely related gap junction β-2 protein (connexins 26) ( 1,4,6 ).…”

“…This hereditary cornification disorder is of unknown prevalence, and to date, ~100 cases of KID syndrome have been reported in the literature 3,6,7,11,14 . Inheritance is usually sporadic, but some familial forms have been reported with autosomal dominant and recessive transmission pattern 1,3,4,6,7,10,14 .…”

“…[2][3][4]10,11,13 Furthermore, some patients develop thick perioral rugae and an aged appearance of the face (Figure 1), 10 angular cheilitis and dental abnormalities. 2,11 Patients present an increased susceptibility of developing both benign and malignant cutaneous tumors, such as trichilemmoma and squamous cell carcinoma of mucous membranes in at least 12% of patients, 3,4,6,11,13 apparently due to p53 loss in the lesions. 3 The development has also been described spinocellular carcinoma from dermal or lingual lesions.…”

“…4 The ocular manifestations are usually progressive and develop during infancy. 10 There is significant corneal involvement with corneal epithelial defects, severe punctate keratitis, 10 progressive neovascularization, [2][3][4]6 which is bilateral but asymmetrical, (over 80% of cases), 10 and recurring corneal erosions. 2,10 There are disturbances of the tear film due to meibomitis and severe dry eye syndrome.…”

“…Inherited ichthyoses are subdivided into nonsyndromic ichthyoses with phenotypes that are restricted to the skin and syndromic ichthyoses with defects in skin and other organs. 1 Keratitis-ichthyosis-deafness (KID syndrome, OMIM 148210 and 242150), [1][2][3][4][5][6][7] was initially described by Burns in 1915, 1,2,8 and the acronym is proposed by Skinner et al, in 1981. 1,2,7,9 KID syndrome is a rare congenital disorder characterized by the association of the classic triad of chronic vascularizing keratitis, ichthyosiform erythroderma, and moderate to profound bilateral prelingual sensorineural hearing loss, [1][2][3][4][5][6][7][10][11][12][13][14] which often impacts speech.…”