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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

X-linked cutaneous amyloidosis: further clinical and pathological observations.

A 10-year follow-up of a family with X-linked cutaneous amyloidosis confirmed no more than streaks or spots of brown pigmentation of the skin in females but much more varied and severe manifestations in males. These included neonatal colitis, infantile diarrhea, recurrent respiratory infections, corneal dystrophy, photophobia, unruly hair with a frontal upsweep, dry skin, and mottled, muddy-brown pigmentation seen first on the inner thighs and spreading diffusely to the buttocks, trunk, and arms. Amyloid was found in the pigmented skin of adults of both sexes but not in children. An autopsy of a 50-year-old man, subject to recurrent pneumonia, confirmed the presence of amyloid in the skin, but it was not found in other organs. Changes in the lungs were those of late-stage diffuse pulmonary fibrosis. The pattern of inheritance is X-linked, but the pathogenesis remains obscure.[1]


  1. X-linked cutaneous amyloidosis: further clinical and pathological observations. Partington, M.W., Prentice, R.S. Am. J. Med. Genet. (1989) [Pubmed]
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