Epilepsy in a patient with focal dermal hypoplasia

Focal dermal hypoplasia is an X-linked, dominantly inherited syndrome of mesodermal and ectodermal deficits. Although profound dysplasia of connective tissue, especially in the skin and skeleton, inarguably constitutes a predominant feature of focal dermal hypoplasia, the disease occurs in a variety of organs of ectodermal and mesodermal origin. However, seizure disorders with focal dermal hypoplasia and findings of cranial magnetic resonance imaging in focal dermal hypoplasia were not previously reported. We report on a 5-year-old girl with focal dermal hypoplasia, refractory epilepsy, and suspected dysplasia of the cerebellar cortex. This case may represent a novel expression of focal dermal hypoplasia as a seizure disorder and dysplasia of the cerebellar cortex. Hence seizure disorders and dysplasia of the cerebellar cortex need to be considered in patients with focal dermal hypoplasia.