Keratitis, ichthyosis, and deafness (KID) syndrome. Vertical transmission and death from multiple squamous cell carcinomas

Successful cochlear implantation in a child with Keratosis, Icthiosis and Deafness (KID) Syndrome and Dandy-Walker malformation

“…Although most cases of KID Syndrome, including the current case, are sporadic, familial occurrence of KID Syndrome can occur [8]. There are a total of 5 cases of familial occurrence in the literature, with 3 reports in 4 families suggesting autosomal dominant transmission [20][21][22] and a single report suggesting autosomal recessive transmission [19].…”

The immigration delay disease: Adermatoglyphia–inherited absence of epidermal ridges

“…Palmoplantar keratoderma in the KID (keratitis-ichthyosis-deafness) syndrome, for example, leads to pachydermatoglyphia (Fig 4, A). [29][30][31] In dyskeratosis congenita, hyperkeratosis of the palms and soles causes impairment of dermatoglyphs, which finally results in a loss of the epidermal ridges. 32 This demonstrates that absence of dermatoglyphs can occur secondarily to a primary J AM ACAD DERMATOL ectodermal defect.…”

Você conhece esta síndrome?

“…[5][6][7] A less frequent complication, but which can considerably decrease life expectancy of patients is squamous cell carcinoma, which occurs in 29% of cases. [4][5][6][7][8][9] A high probablility of extracutaneous involvement exists in KID syndrome. One manifestation is sensorineural deafness, generally with severe, bilateral and progressive evolution due to cochlear saccular dysplasia.…”

“…8 Uncommon lethal forms of KID syndrome have been reported e.g. a more severe phenotype of the disease can involve G45E mutation in the GJB2 gene.…”