Patient History: A 3-year-old girl presented to a hospital due to gait disturbance and undiagnosed skin lesions. The patient presented bilateral spasticity of the legs. Acquisition of motor skills was delayed, as she achieved standing without support and walking at the age of 13 and 16 months, respectively. At the age of 16 months, she spoke 8–10 words. There was no history of epileptic seizures. Physical Examination: She presented with extensive hyperkeratosis and scaling of the skin especially on palms and soles and hyperpigmented skin flexures (image attached).
Her hair and fingernails were normal. There was a history of recurrent chalazia. Her birth was at full-term (39 weeks), following an uneventful pregnancy. She is the fourth living child of a consanguineous couple who reported being third cousins, all other siblings having no significant medical history. Radiologic Findings:…
