Publications by authors named "Beena Padmakumar"

A neonate was born with generalised, erythrodermic, thick, fissured skin, severe ectropion, hypoplastic auricles and limb abnormalities. A clinical diagnosis of harlequin ichthyosis was made, allowing supportive therapies to be commenced promptly. Oral acitretin was initiated on day 3 of life, complemented by an intensive skin care regimen.

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We report the case of a 9-year-old boy referred to secondary care with an unusual presentation of a fishy odour to his hands, feet, saliva and urine. Laboratory investigations including urine analysis and genetic testing confirmed the diagnosis of trimethylaminuria. The patient was referred to a geneticist and dietician, and consequently treated with dietary modification.

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Neonatal suppurative sialadenitis is a condition causing infection of the salivary glands, most frequently caused by Staphylococcus aureus. The vast majority of cases reported in the literature have been in infants with recognised risk factors. This report presents two cases of neonatal sialadenitis in siblings, neither of whom had any predisposing characteristics.

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