von Recklinghausen Disease in a Patient with X-linked Agammaglobulinemia

概要

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A 33-year-old man was referred to our hospital because of intractable cellulitis in his left lower leg. He was diagnosed with agammaglobulinemia at the age of 6 years and had been receiving γ-globulin supplementation since then. Laboratory examination revealed a markedly reduced number of B cells, decreased protein amount of Brutons tyrosine kinase (BTK) in monocytes, and a single base substitution of C994→T(missense mutation of Arg288→Trp) in BTK gene, confirming the diagnosis of X-linked agammaglobulinemia (XLA). The patient also had characteristic features of von Recklinghausen disease, such as numerous subcutaneous nodules, café-au-lait spots, Lisch nodules in the iris and spinal scoliosis. Biopsy of a subcutaneous nodule confirmed a neurofibroma. Although the influence of XLA on the development of von Recklinghausen disease is unknown for the moment, this is, to our knowledge, the first report of a patient with XLA who also developed von Recklinghausen disease.(Internal Medicine 41: 1039-1043, 2002)
社団法人日本内科学会の論文
2002-11-01