title: Amyloidosis cutis dyschromica associated with atypical Parkinsonism, spasticity and motor weakness in a Pakistani female.
abstract: 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.
authors.affiliation: Department of Dermatology, The Mount Sinai School of Medicine, New York, NY 10029-6574, USA. nff3@columbia.edu
authors.forename: Neil F
authors.initials: NF
authors.lastname: Fernandes
authors.forename: Stephen E
authors.initials: SE
authors.lastname: Mercer
authors.forename: Rebecca
authors.initials: R
authors.lastname: Kleinerman
authors.forename: Mark G
authors.initials: MG
authors.lastname: Lebwohl
authors.forename: Robert G
authors.initials: RG
authors.lastname: Phelps
mesh_terms: D000328:Adult; D028226:Amyloidosis, Familial / Q000150:complications* / Q000235:genetics / Q000473:pathology; D001706:Biopsy; D005260:Female; D006801:Humans; D008297:Male; D009128:Muscle Spasticity / Q000150:complications* / Q000235:genetics / Q000473:pathology; D018908:Muscle Weakness / Q000209:etiology / Q000473:pathology; D009468:Neuromuscular Diseases / Q000150:complications* / Q000235:genetics / Q000473:pathology; D010154:Pakistan; D010300:Parkinson Disease / Q000150:complications* / Q000235:genetics / Q000473:pathology; D012871:Skin Diseases / Q000150:complications* / Q000235:genetics / Q000473:pathology