Refractory ulcerative lupus vulgaris associated with CD4 lymphocytopenia, inversion of chromosome 14, primary amenorrhoea and mental retardation.

A case of ulcerative lupus vulgaris, confirmed by polymerase chain reaction (PCR) is reported. The initial lesion of our case was a papule on the nose, which progressed during antituberculous treatment and caused cartilage destruction and ectropion. Immunological analysis revealed CD4 lymphocytopenia, and the possibility of idiopathic CD4 lymphocyte deficiency was considered. In addition, the patient had primary amenorrhoea, mental retardation and inversion of chromosome 14. CD4 lymphocytopenia and chromosomal abnormality are the possible causes of antituberculous treatment failure.