Harlequin ichthyosis from birth to 12 years.

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. Rehydration, prevention and treatment of infection, temperature control and nutritional support were all essential to see him through the neonatal period. Nearly 12 years later, this child continues to receive multidisciplinary input and enjoys a good quality of life.

Trimethylaminuria.

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. He now has an arguably much improved quality of life.

Neonatal suppurative sialadenitis: an important clinical diagnosis.

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. The aetiology, diagnosis and treatment of this condition are discussed. This report will also highlight the need for awareness of this condition and its inclusion in considered differentials for neck swelling in all infants.