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Keratitis–Ichthyosis–Deafness Syndrome
Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020
Keratitis–ichthyosis–deafness syndrome (KID syndrome) is a rare autosomal dominant disorder characterized by vascularizing keratitis, bilateral deafness, and ichthyosis/erythrokeratoderma as well as increased risk for squamous cell carcinoma. Heterozygous missense mutations in the GJB2 gene encoding gap junction protein connexin26 (Cx26), which participates in the maintenance of tissue homeostasis, growth control, development, and synchronized response of cell stimuli, appear to underlie the pathogenesis of this congenital disease. Clinical diagnosis of KID syndrome relies on meeting five major and four minor criteria. Molecular identification of GJB2 pathogenic variants in affected patients (36%) further confirms the diagnosis. Treatment of KID syndrome centers on rehabilitation of hearing loss, and standard procedures for symptomatic relief of skin problems, visual disturbances, and other complications.
Ophthalmology
Published in Stephan Strobel, Lewis Spitz, Stephen D. Marks, Great Ormond Street Handbook of Paediatrics, 2019
The hereditary type is very rare. Aetiology includes autosomal dominant keratitis (PAX 6, homeobox gene mutation), ectrodactyly, ectodermal dysplasia and cleft lip and palate syndrome (EEC), ectodermal dysplasia, keratitis–ichthyosis–deafness syndrome (KID), Riley–Day syndrome (familial dysautonomia), epidermolysis bullosa, keratopathy (corneal erosions, epithelial defects) and corneal vascularisation. The child is usually photophobic and has reduced visual acuity (Fig. 7.19).
The role of connexins in breast cancer: from misregulated cell communication to aberrant intracellular signaling
Published in Tissue Barriers, 2022
Yagmur Ceren Unal, Busra Yavuz, Engin Ozcivici, Gulistan Mese
GJIC and connexins are indispensable for tissue homeostasis and human physiology as demonstrated both by the association of connexin mutations with several hereditary diseases and by the link between cancer and abnormal channel activities and/or connexin expression.21 So far, at least nine human hereditary disorders resulting from connexin gene mutations have been reported.32,93 The most common hereditary disease caused by connexin mutations is nonsyndromic sensorineural hearing loss due to mostly Cx26 mutations in addition to Cx30 and Cx31 mutations.94–96 Another tissue affected by the connexin mutations is the lens, where Cx46 and Cx50 mutations resulted in congenital cataracts.97,98 Similarly, Cx32 mutations were reported in X-linked dominant form of Charcot–Marie–Tooth disease99 and Cx26 mutations were further linked to syndromic hearing loss with epidermal phenotypes including keratitis–ichthyosis–deafness syndrome.15,100,101 In addition to hereditary diseases, there is a growing evidence demonstrating the involvement of connexins and their channels in many cancers.