Hypomelanosis of Ito.
A two-year-old male child presented with bizarre hypopigmented skin lesions, severe mental retardation and generalized tonic-clonic seizures. Examination showed hypopigmented patterned whorls and irregular patches over the trunk and linear streaks over the flexor aspects of upper and lower limbs. He also had generalized hypertonia and brisk tendon reflexes. Other systems were normal.
Kumar
A
A
Department of Pediatrics, Banaras Hindu University, Varanasi.
Chaudhary
D
D
Bhargava
V
V
D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics; D025063:Chromosome Disorders; D004830:Epilepsy, Tonic-Clonic / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D008297:Male; D010859:Pigmentation Disorders / Q000175:diagnosis* / Q000235:genetics