Association of Urticaria pigmentosa with Café-au-Lait Spots, Neurofibromas and Neurofibroma-Like Neoplasms: A Mere Coincidence?

Abstract

Background: Urticaria pigmentosa (UP) is characterized by dense aggregates of mast cells in the dermis. There is consistent evidence from the literature that mast cells may play a pathogenetic role in the development of neurofibromas and other tumors. Objective: To study the concomitant appearance of UP with neurofibromas and neurofibroma-like neoplasms. Methods: We analyzed 31,752 records of patients examined at the Department of Dermatology in the year 2000, looking for UP and associated neurofibromas and neurofibroma-like neoplasms in persons younger than 18 years. Results: We identified a total of 27 patients suffering from UP, with 16 persons younger than 18 years. One 12-year-old Caucasian boy demonstrated multiple cutaneous mastocytomas consistent with the diagnosis of UP. On his trunk, four café-au-lait spots were found. A cutaneous neurofibroma was confirmed by skin biopsy. Magnetic resonance imaging detected multiple neoplasms located at the nerve roots of the spine, resembling plexiform neurofibromas. Conclusions: There may be a concomitant appearance of UP and neoplasms, with mast cells possibly playing a causative role. The existence of neoplasms, including neurofibromas and neurofibroma-like lesions should be considered when examining UP cases.

Increased Expression of Segmental Neurofibromatosis with Bronchoalveolar Lung Carcinoma

“…The factors promoting the development of neurofibromas are not clear. It has been reported that in urticaria pigmentosa cases mast cells might play a causative role in the development of neurofibroma and neurofibroma-like lesions [8]. Similarly in this case, some tumorigenic factors secreted by bronchoalveolar carcinoma cells may be responsible for the development or acceleration of neurofibromas in this patient.…”

c-<i>kit</i> Mutation in Generalized Lentigines Associated with Gastrointestinal Stromal Tumor

“…The condition presented here may be a new clinical entity that should be added to the list of disorders characterized by multiple lentigines. It is noteworthy that mastocytosis has been associated with café-au-lait macules [26]. …”

Non-Pigmented Micromastocytomas: An Exceptional Presentation of Cutaneous Mastocytosis in an Adult

“…Darier's sign was positive with no dermographism ( fi g. 1 b). There was no other clinical anomaly on physical examination, especially no lymph node enlargement and no hepatomegaly or splenomegaly, no fl ushing and no signs suggestive of concomitant neurofi bromatosis [1] . The complete blood count and the other biological examinations were normal except that there was a slight increase in both the plasma level of histamine (61 nmol/l; normal: 5-25) and the urinary level of prostaglandin D 2 (226 ng/mmol; normal: 40-200).…”