ABSTRACT
Multicentric reticulohistiocytosis (MR) is a rare non-Langerhans histiocytosis that is characterized by cutaneous nodules and severe destructive arthritis. Although 25-30% of reported cases have been associated with internal malignancies, the pathophysiology of MR is unknown. Herein, we report two cases of MR that were associated with urologic neoplasms. Because the tumor suppressor gene p53 may play a role in the biology of other histiocytoses, we investigated its p53 immunoexpression in these two cases. Both cases were positive immunohistochemically, but it remains to be seen whether this finding is truly important in the pathogenesis of MR associated with underlying visceral neoplasms.
Subject(s)
Histiocytosis, Non-Langerhans-Cell/pathology , Paraneoplastic Syndromes/pathology , Urologic Neoplasms/complications , Carcinoma, Neuroendocrine/complications , Carcinoma, Renal Cell/pathology , Carcinoma, Small Cell/complications , Female , Histiocytosis, Non-Langerhans-Cell/etiology , Histiocytosis, Non-Langerhans-Cell/genetics , Humans , Immunohistochemistry , Kidney Neoplasms/complications , Male , Middle Aged , Paraneoplastic Syndromes/etiology , Paraneoplastic Syndromes/genetics , Tumor Suppressor Protein p53/biosynthesis , Tumor Suppressor Protein p53/genetics , Urinary Bladder Neoplasms/complicationsABSTRACT
Dyskeratosis congenita is a rare, progressive, degenerative disorder characterized by cutaneous and mucosal involvement in the first decade of life with malignant changes and bone marrow failure in the second and third decades. The primary inheritance pattern is X-linked recessive, with the majority of cases presenting in boys. We report dyskeratosis congenita in an adolescent girl with choanal atresia, a previously unreported association.
