Is BCL11B a potential candidate gene for the diffuse cutaneous mastocytosis: A case report

Abstract

Objective: Mastocytosis is a heterogeneous clinical phenotype spectrum characterized by the accumulation of mast cells in various organs. Cutaneous mastocytosis is the skin bounded form of this spectrum. Diffuse Cutaneous Mastocytosis (DCM) is a rare type of cutaneous mastocytosis that accounts for only 1 to 5% of all cases. The aim of this study is to report the molecular characterization of a Turkish patient with DCM with a large duplication on the long arm of chromosome 14, including the BCL11B (CTIP2) gene. Case: A 32-months-old girl was referred to our department because of DCM and stuttering. In our patient who was born at 38 weeks of gestation after an uneventful pregnancy, in the neonatal period; recurrent episodes of diarrhea and atopic dermatitis began and DCM was diagnosed due to diffuse bullous lesions on the skin at the age of 4 months. Although growth and motor development were normal, there was language delay. Routine karyotype analysis of the case was normal (46,XX). In the microarray-CGH analysis, de novo 7.7 megabase (Mb) duplication containing 15 morbid OMIM genes including BCL11B gene at 14q32.2-q32.33 locus was detected. Conclusions: BCL11B, which is highly expressed during the development of T lymphocytes, is a transcriptional regulatory protein. It has been shown immunohistochemically that BCL11B is also expressed in the normal human epidermis. We suggest that the BCL11B gene may be a potential candidate gene for diffuse cutaneous mastocytosis. Other cases with such clinical signs should be examined for mutations of the BCL11B gene.