paeds155

paeds155

A 5 year old girl presents with a wart-like lesion on her thigh and a hyperpigmented, rhabdoid whorl rash. She has a history of seizures since she was three years old and warts similar to the one she has now. Family history reveals the mother had two in utero stillbirths. The doctor observes small vesicles on the anterior surface of her left wrist. Other findings include mild scoliosis, thin wiry hair, and peg-shaped teeth. Her gait is normal and she is otherwise healthy. Ruth Griffiths score reveals a reduced sub quotient in terms of social skills, performance, and language and hearing skills. The doctor takes a biopsy sample which shows many intradermal eosinophils in the absence of inflammatory cells. What is the most probable diagnosis?