Clinical Research Case Descriptions

What is it about?

The patient was a 21-month old Caucasian boy with normal birth weight who had a history of acral lesions and periorificial dermatitis since he was 3 months old. He was breastfed until he was two and a half months old. He has a history of upper respiratory tract infections and otitis media which was treated in a private clinic. His parents were blood-related and his older brother, who had the same symptoms, had died at the age of 14 months. His preliminary skin examination showed plaque like scaly skin, erythematous, dry skin, and skin lesions on areas around the eyes, mouth, and diaper area. Additionally, there were reports of hair loss (alopecia), soft tissue infections around the nails (paronychia), and cracks and infection in the inguinal region. Physical examinations stated that the infant irritable and photophobic. His measured height and weight were 68 cm and 7.8 kg, respectively.

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