Keratitis, Ichthyosis and Deafness (Kid Syndrome)

Singh, Kamlender

doi:10.1111/j.1440-0960.1987.tb00329.x

Cited by 10 publications

(3 citation statements)

References 3 publications

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“…The autosomic dominant KID Syndrome (MIM 148210), caused by mutations in GJB2 (connexin 26, Cx26), [1] or GJB6 (connexin 30.3, Cx30.3) [2,3], is an ectodermal dysplasia which is normally included in the heterogeneous group of the erythrokeratodermias. At epidermal level, KID Syndrome shows localized erythematous scaly lesions and keratitis [4][5][6][7][8][9][10][11][12][13][14], with occasional scarring alopecia, while severe sensorineural deafness is evident at the hearing level. Further diagnostic features include corneal epithelial defects, scarring, and neo-vascularisation that could progress to blindness.…”

Section: Introductionmentioning

confidence: 99%

Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation

Terrinoni¹,

Codispoti²,

Serra³

et al. 2010

Biochemical and Biophysical Research Communications

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Section: Introductionmentioning

confidence: 99%

Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation

Terrinoni¹,

Codispoti²,

Serra³

et al. 2010

Biochemical and Biophysical Research Communications

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“…During early infancy, features of erythrokeratoderma develop, appearing as sharply demarcated erythematous hyperkeratotic plaques particularly on the knees, elbows, scalp, forehead, cheeks, and perioral area in addition to scattered follicular hyperkeratosis on the trunk (6,7). Sparse hair of the scalp, eyebrows, and eyelashes, leukonychia, thickened nailplates, and dental abnormalities are additional findings associated with KID syndrome (8). Chronic skin infections, particularly candidiasis, are seen in about half of cases (7).…”

Section: Discussionmentioning

confidence: 99%

Generalized Xerosis and Hyperkeratotic, Infected Scalp Lesions in a 7-Year-Old with Congenital Hearing Impairment

Miller¹,

Henderson²,

Burkhart³

et al. 2010

Pediatric Dermatology

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A female infant, born at term after a normal pregnancy and delivery, presented to our institution at 28 days of age with disseminated purplish skin lesions. No significant family history existed.According to the mother, the patient had a small perianal nodule and another nodule on the abdomen at birth. Subsequently, these lesions increased in size, and new lesions appeared on the scalp, trunk, arms, and inguinal area. The infant was in excellent general condition,with normal growth parameters. On examination at presentation to our institution at 28 days of age, a hard, painless erythematous nodule was located in the perianal region (Fig. 1), and several slightly purplish nodules, measuring under 0.5 cm in diameter, were located on the scalp, trunk, and extremities (Fig. 2). No hepatosplenomegaly, adenopathy, or changes in the oral mucosa were found.A complete blood count showed neutropenia and lymphocytosis, with a normal hemoglobin and platelet count. TORCH serology, including syphilis serology, and chest radiograph, were normal. A skin biopsy was taken from the perianal lesion.

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“…About half of patients have sparse scalp hair and sparse or often absent eyebrows and eyelashes (7). In some patients teeth are normally developed, but in others they are defective and likely to develop caries (1,4).…”

Section: Discussionmentioning

confidence: 99%