7th June 2025

A 4-year-old girl presents to the paediatrics general clinic for brittling of her finger and toe nails and skin pigmentations.

A 4-year-old girl presents to the paediatrics general clinic for brittling of her finger and toe nails and skin pigmentations. Her past medical history includes treatment for recurrent chest infections and multiple temperature spikes of unknown source. On general examination, she had pigmentations and thickening of her skin and also had teeth disfigurement. She also had sparse hair.

What is the likely diagnosis?

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