Case Report
Year 2020,
Volume: 42 Issue: 3, 396 - 402, 27.10.2020
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.
Keywords
References
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- [26] Lyons JJ, Hughes JD, Le QT, et al. Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number. Nat Genet 2016; 48:1564‐1569.
- [27] Avram D, Fields A, Senawong T, Topark-Ngarm A, Leid M. (2002). COUP-TF (chicken ovalbumin upstream promoter transcription factor)-interacting protein 1 (CTIP1) is a sequence-specific DNA binding protein. Biochem J: 368: 555–563.
- [28] Golonzhka O, Leid M, Indra G, Indra AK. Expression of COUP-TF-interacting protein 2 (CTIP2) in mouse skin during development and in adulthood. Gene Expression Patterns 2007; 7:754–760.
- [29] Ganguli-Indra G, Liang X, Hyter S, Leid M, Hanifin J, Indra AK. Expression of COUP-TF-interacting protein 2 (CTIP2) in human atopic dermatitis and allergic contact dermatitis skin. John Wiley & Sons A/S, Experimental Dermatology 2009; 18, 994–996.
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Year 2020,
Volume: 42 Issue: 3, 396 - 402, 27.10.2020
Abstract
References
- [1] Arock M, Valent P. Pathogenesis, classification, and treatment of mastocytosis: state of the art in 2010 and future perspectives. Expert Rev Hematol 2010; 3:497–516.
- [2] Szczałubaa K, Biernackaa A, Szymańskac K, Gasperowicza P, Kosińskaa J, Rydzanicza M, Płoskia R. Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: Clinical report and literature review. European Journal of Medical Genetics 2018; 61: 157–160.
- [3] Valent P, Akin C, Hartmann K, Nilsson G, Reiter A, Hermine O, et al. Advances in the classification and treatment of mastocytosis: current status and outlook toward the future. Cancer Res 2017; 77(6): 1261–70.
- [4] Hosking A-M, Makdisi J, Ortenzio F, de Feraudy S, Smith J, Linden K. Diffuse cutaneous mastocytosis: Case report and literature review. Pediatr Dermatol 2018; 00:1–5.
- [5] Méni C, Bruneau J, Georgin-Lavialle S, et al. Paediatric mastocytosis: a systematic review of 1747 cases. Br J Dermatol 2015; 172 (3):642‐ 651.
- [6] Hannaford R, Rogers M. Presentation of cutaneous mastocytosis in 173 children. Australas J Dermatol 2001; 42(1):15‐21.
- [7] Lange M, Niedoszytko M, Nedoszytko B, Łata J, Trzeciak M, Biernat W. Diffuse cutaneous mastocytosis: analysis of 10 cases and a brief review of the literature. J Eur Acad Dermatol Venereol 2012; 26 (12):1565‐1571.
- [8] Bodemer C, Hermine O, Palme´rini F, YangY, et al. Pediatric Mastocytosis is a Clonal Disease Associated with D816V and Other Activating c-KIT Mutations. Journal of Investigative Dermatology 2010; 130: 804–815.
- [9] Kushnir-Sukhov NM, Brittain E, Scott L, Metcalfe DD. Clinical correlates of blood serotonin levels in patients with mastocytosis. Eur J Clin Investig 2008; 38(12):953–958. [10] Carter MC, Metcalfe DD, Komarow HD. Mastocytosis. Immunol Allergy Clin N Am 2014; 34(1):181–196.
- [11] Edwards AM, Capkova S. Oral and topical sodium cromoglicate in the treatment of diffuse cutaneous mastocytosis in an infant. BMJ Case Rep 2011; 29:2011.
- [12] Komi A D E, Rambasek T, Wöhrl S. Mastocytosis: from a Molecular Point of View. Clinic Rev Allerg Immunol 2018; 54:397–411.
- [13] Cardet JC, Akin C, Lee MJ. Mastocytosis: update on pharmacotherapy and future directions. Expert Opin Pharmacother 2013; 14(15):2033–2045.
- [14] Valent P. Diagnosis and management of mastocytosis: an emerging challenge in applied hematology. Hematology Am Soc Hematol Educ Program 2015; 2015:98‐105.
- [15] Wilcock A, Bahri R, Bulfone-Paus S, Arkwright PD. Mast cell disorders: From infancy to maturity. Allergy 2019; 74:53–63.
- [16] Valent P. Mastocytosis: a paradigmatic example of a rare disease with complex biology and pathology. Am J Cancer Res 2013; 3(2):159–172.
- [17] Valent P, Escribano L, Broesby-Olsen S, Hartmann K, Grattan C, Brockow K, et al. Proposed diagnostic algorithm for patients with suspected mastocytosis: a proposal of the European Competence Network on Mastocytosis. Allergy 2014; 69:1267–74.
- [18] Arock M, Sotlar K, Akin C, Broesby-Olsen S, Hoermann G, Escribano L, et al. KIT mutation analysis in mast cell neoplasms: recommendations of the European Competence Network on Mastocytosis. Leukemia 2015; 29:1223–32.
- [19] Gari M, Goodeve A, Wilson G, Winship P, Langabeer S, Linch D, et al. C-kit proto-oncogene exon 8 in-frame deletion plus insertion mutations in acute myeloid leukaemia. Br J Haematol 1999; 105:894–900.
- [20] Lux ML, Rubin BP, Biase TL, Chen CJ, Maclure T, Demetri G, et al. KIT extracellular and kinase domain mutations in gastrointestinal stromal tumors. Am J Pathol 2000; 156:791–5.
- [21] Longley BJ Jr, Metcalfe DD, Tharp M, Wang X, Tyrrell L, Lu SZ, et al. Activating and dominant inactivating c-KIT catalytic domain mutations in distinct clinical forms of human mastocytosis. Proc Natl Acad Sci USA 1999; 96:1609–14.
- [22] Valent P, Akin C, Sperr WR, Escribano L, Arock M, Horny HP, et al. Aggressive systemic mastocytosis and related mast cell disorders: current treatment options and proposed response criteria. Leuk Res 2003; 27:635–41.
- [23] Subramanian H, Gupta K, Ali H. Roles of MAS-related G protein-coupled receptor- X2 (MRGPRX2) on mast cell-mediated host defense, pseudoallergic drug reactions and chronic inflammatory diseases. J allergy Clin Immunol 2016; 138 (3): 700–710.
- [24] Yoda A, Adelmant G, Tamburini J, et al. Mutations in G protein beta subunits promote transformation and kinase inhibitor resistance. Nat Med 2015; 21 (1): 71–75.
- [25] Fujisawa D, Kashiwakura J, Kita H, Kikukawa Y, Fujitani Y, Sasaki-Sakamoto T, et al. Expression of Mas-related gene X2 on mast cells is upregulated in the skin of patients with severe chronic urticaria. J Allergy Clin Immunol 2014; 134: 622–633 e9.
- [26] Lyons JJ, Hughes JD, Le QT, et al. Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number. Nat Genet 2016; 48:1564‐1569.
- [27] Avram D, Fields A, Senawong T, Topark-Ngarm A, Leid M. (2002). COUP-TF (chicken ovalbumin upstream promoter transcription factor)-interacting protein 1 (CTIP1) is a sequence-specific DNA binding protein. Biochem J: 368: 555–563.
- [28] Golonzhka O, Leid M, Indra G, Indra AK. Expression of COUP-TF-interacting protein 2 (CTIP2) in mouse skin during development and in adulthood. Gene Expression Patterns 2007; 7:754–760.
- [29] Ganguli-Indra G, Liang X, Hyter S, Leid M, Hanifin J, Indra AK. Expression of COUP-TF-interacting protein 2 (CTIP2) in human atopic dermatitis and allergic contact dermatitis skin. John Wiley & Sons A/S, Experimental Dermatology 2009; 18, 994–996.
- [30] Wang Z, Zhang LJ, Guha G, Li S, Kyrylkova K, Kioussi C, Indra AK. Selective ablation of Ctip2/Bcl11b in epidermal keratinocytes triggers atopic dermatitis-like skin inflammatory responses in adult mice. PloS one 2012; 7(12): e51262.
There are 29 citations in total.
Details
| Primary Language | English |
|---|---|
| Subjects | Health Care Administration |
| Journal Section | Case Reports |
| Authors | |
| Publication Date | October 27, 2020 |
| Acceptance Date | August 27, 2020 |
| Published in Issue | Year 2020Volume: 42 Issue: 3 |