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: Daisuke Hirata, Hiroyuki Nara, Toshihiro Inaba, Rika Muroi, Hirokazu Kanegane, Toshio Miyawaki, Hitoaki Okazaki, Seiji Minota
• Journal: Internal medicine (Tokyo, Japan) (Intern Med) Vol. 41 Issue 11 Pg. 1039-43 (Nov 2002) ISSN: 0918-2918 [Print] Japan
• PMID: 12487187 (Publication Type: Case Reports, Journal Article)

Topics

• Adult
• Agammaglobulinemia (complications, genetics)
• Genetic Diseases, X-Linked (complications)
• Humans
• Male
• Neurofibromatosis 1 (complications)