Fabry’s disease in a female, still an under-recognised disease

Abstract

A nine-year-old girl presented with an asymptomatic eruption on her right leg which had been present for 2 years. She complained of severe acral pain and paraesthesiae for several years, despite treatment with numerous analgaesics, amitriptyline, gabapentin and carbamazepine. On occasion she had been confined to a wheelchair and required home schooling. On examination she had a unilateral eruption affecting her right thigh and lower leg (Figure 1). On closer view, there were erythematous, hyperkeratotic and haemorrhagic papules. Histopathological examination of a skin biopsy showed hyperkeratosis and dilated blood vessels in the dermis consistent with . Electron microscopy demonstrated intralysosomal glycolipid deposits, arranged in a lamellar fashion, within the endothelial cells lining dermal blood vessels (Figure 2)