title: von Recklinghausen disease in a patient with X-linked agammaglobulinemia.
abstract: 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 gamma-globulin supplementation since then. Laboratory examination revealed a markedly reduced number of B cells, decreased protein amount of Bruton's 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.
authors.affiliation: Department of Rheumatology and Clinical Immunology, Jichi Medical School, Tochigi.
authors.forename: Daisuke
authors.initials: D
authors.lastname: Hirata
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Nara
authors.forename: Toshihiro
authors.initials: T
authors.lastname: Inaba
authors.forename: Rika
authors.initials: R
authors.lastname: Muroi
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Kanegane
authors.forename: Toshio
authors.initials: T
authors.lastname: Miyawaki
authors.forename: Hitoaki
authors.initials: H
authors.lastname: Okazaki
authors.forename: Seiji
authors.initials: S
authors.lastname: Minota
mesh_terms: D000328:Adult; D000361:Agammaglobulinemia / Q000150:complications* / Q000235:genetics; D040181:Genetic Diseases, X-Linked / Q000150:complications*; D006801:Humans; D008297:Male; D009456:Neurofibromatosis 1 / Q000150:complications*