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Amyloidosis cutis dyschromica associated with atypical Parkinsonism, spasticity and motor weakness in a Pakistani female
Author(s) -
Fernandes Neil F.,
Mercer Stephen E.,
Kleinerman Rebecca,
Lebwohl Mark G.,
Phelps Robert G.
Publication year - 2011
Publication title -
journal of cutaneous pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 75
eISSN - 1600-0560
pISSN - 0303-6987
DOI - 10.1111/j.1600-0560.2011.01719.x
Subject(s) - spasticity , parkinsonism , pathology , medicine , eosinophilic , amyloidosis , dermatology , disease , physical therapy
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. Fernandes NF, Mercer SE, Kleinerman R, Lebwohl MG, Phelps RG. Amyloidosis cutis dyschromica associated with atypical Parkinsonism, spasticity and motor weakness in a Pakistani female.