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Keratitis-ichthyosis-deafness (KID) syndrome (MIM: #148210) is a rare form of syndromic ichthyosis associated with heterozygous mutations in I GJB2 i encoding connexin 26, a member of the connexin family of transmembrane proteins, involved in cell-cell communication.[1] I GJB2 i mutations are also associated with non-syndromic deafness.[2] Mosaic I GJB2 i mutations were previously identified in porokeratotic eccrine ostial and dermal duct nevus (PEODDN).[3] Here, we report two patients with mosaic I GJB2 i mutations thus expanding the clinical spectrum of I GJB2 i -related disorders. Extending the phenotypic spectrum of keratitis-ichthyosis-deafness syndrome: report of a patient with GJB2 (G12R) Connexin 26 mutation and unusual clinical findings. [Extracted from the article]

Presence of "grain"-like superficial dyskeratotic keratinocytes (d). gl GLO:3NZ/01jun21:jdv17153-fig-0002.jpg PHOTO (COLOR): 2 Hyperkeratotic lesions in the patient (a) and in his mother (striate palmoplantar keratoderma) (b). gl After obtaining written informed consent, genomic DNA was extracted from the child peripheral blood leucocytes and linear trunk skin lesion. I Editor i Striate palmoplantar keratoderma (SPPK) is a rare autosomal-dominant form of PPK, characterized by linear hyperkeratosis of the volar aspects of the fingers extending onto the palm and focal to diffuse hyperkeratosis of the soles. [Extracted from the article]