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Stiff skin syndrome was first documented by Esterly and McKusick. We saw a patient with this disease, as well as another who had a similar condition but a somewhat different histology. These two patients shared heritable stiff skin, restricted joint mobility, and absent mucopolysacchariduria. In stiff skin syndrome, which may have two variants, skin biopsy demonstrates large cells stained metachromatically by toluidine blue. These cells are shaped like dermal melanocytes or rounded cells and their presence may be directly related to the deposition of mucopolysaccharide in the dermis. In some cases they may invade the deeper tissues. Two cases of stiff skin syndrome that were in the Japanese literature are also discussed.
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