Amyloidosis cutis dyschromica associated with atypical Parkinsonism, spasticity and motor weakness in a Pakistani female

Amyloidosis cutis dyschromica is a rare form of cutaneous amyloidosis in which there is deposition of keratinocyte-derived amyloid with involvement of almost the entire integument, leading to diffuse dyschromia without associated systemic abnormalities. We report the case of a 40-year-old female who presented with the onset of diffuse hyperpigmentation shortly after birth, which was followed by the widespread development of numerous 2-5 mm hypopigmented macules. Biopsy of the one of these macules revealed eosinophilic globular material in the papillary dermis with Congo red birefringence which also stained positively for high-molecular weight cytokeratin. Electron microscopy confirmed the presence of 11 nm hollow fibrils, consistent with amyloid. Similar clinical changes were noted in a younger male sibling. Both patients also suffered from an unexplained neurological disorder characterized by atypical Parkinsonism, spasticity and motor weakness. This association has not been shown before and may represent a heretofore unreported contiguous gene syndrome.