Keratitis-ichthyosis-deafness syndrome and carotenaemia

Ahmadi, Sharareh; McKenna, K.F.

doi:10.1046/j.1365-2230.2003.01316.x

Cited by 6 publications

(1 citation statement)

References 10 publications

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“…As in this patient, genetic studies conducted upon discovery of hearing impairment often reveal the diagnosis. Three‐fourths of patients develop a vascularizing keratitis of the cornea (1); it is typically progressive, preceded by photophobia, and first appears in childhood or early adolescence (9).…”

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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Section: Discussionmentioning

confidence: 99%