Incontinentia Pigmenti

Abstract

Scientific BACKGROUND: Incontinensia pigmenti is an X-linked genetic disorder characterised by the involvement of skin, hair, teeth and central nervous system (CNS). Skin lesions secondary to melanin is typical. Depending on the CNS involvement, cognitive disturbances, mental retardation, muscle weakness and seizures may occur. CASE: Seven-year-old girl had partial seizures at 5-days of age. During newborn period, she had vesicular lesions with relative pigmented edges and prone to form plaques all over her extremities, the biopsy from which revealed the diagnosis of incontinensia pigmenti. Seizures responded well to medical treatment repeated at the end of 6 years of drug-free period. EEG showed right frontal neuronal hyperexitability, and cranial MRI demonstrated atrophy in the right hemisphere. At the last examination, skin lesions were prominently diminished, leaving small, hyperpigmented scars limited to some parts of the body only. CONCLUSION: This case report emphasizes that in patients who admit with seizures, examination of skin and careful questioning of previous skin lesions are of diagnostic importance.