TLDR A baby with KID syndrome died from infections and organ failure at 18 months old.
A 7-month-old boy with a history of progressive generalized exanthema, developmental delays, and failure to thrive was diagnosed with keratitis-ichthyosis-deafness (KID) syndrome, a rare condition characterized by skin, eye, and hearing abnormalities. Despite various treatments, his condition persisted, and he exhibited symptoms such as erythroderma, keratotic plaques, palmoplantar keratoderma, alopecia, and nail dystrophy. Laboratory tests revealed high white blood cell and eosinophil counts, elevated IgE levels, and positive cultures for Candida albicans, Candida tropicalis, and Staphylococcus aureus. A de novo heterozygous variant in the GJB2 gene was identified through whole exome sequencing, confirming the diagnosis of KID syndrome. The patient's condition deteriorated, leading to hospital admissions for severe skin and respiratory infections, and ultimately, he succumbed to multidrug-resistant septic shock and multiorgan failure at 18 months of age. The case underscores the importance of early recognition and genetic evaluation of severe cutaneous manifestations in infants, as well as the challenges in managing syndromic ichthyosis.
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