Dermoscopy as an adjuvant tool for detecting skin leiomyomas in patient with uterine fibroids and cerebral cavernomas

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• 作者：Laura Diluvio (1)
  Claudia Torti (1)
  Alessandro Terrinoni (2)
  Eleonora Candi (2)
  Raffaella Piancatelli (3)
  Emilio Piccione (3)
  Evelin Jasmine Patern貌 (4)
  Sergio Chimenti (1)
  Augusto Orlandi (5)
  Elena Campione (1)
  Luca Bianchi (1)
  
  1. Department of Dermatology ; University of Tor Vergata ; Rome ; Italy
  2. Department of Experimental Medicine ; University of Tor Vergata ; Rome ; Italy
  3. Department of Gynecology and Obstetrics ; University of Tor Vergata ; Rome ; Italy
  4. Dermatologist in Rome ; Rome ; Italy
  5. Department of Anatomic Pathology ; University of Tor Vergata ; Rome ; Italy
  
• 关键词：Cutaneous leiomyoma ; Dermoscopic pattern ; Dermatofibroma ; Differential diagnosis
• 刊名：BMC Dermatology
• 出版年：2014
• 出版时间：December 2014
• 年：2014
• 卷：14
• 期：1
• 全文大小：350 KB
• 参考文献：1. Reed, WB, Walker, R, Horowitz, R (1973) Cutaneous leiomyomata with uterine leiomyomata. Acta Derm Venereol 53: pp. 409-416
  2. Kloepfer, HW, Krafchuk, J, Derbes, V, Burks, J (1958) Hereditary multiple leiomyoma of the skin. Am J Hum Genet 10: pp. 48-52
  3. Gardie, B, Remenieras, A, Kattygnarath, D, Bombled, J, Lef猫vre, S, Perrier-Trudova, V, Rustin, P, Barrois, M, Slama, A, Avril, MF, Bessis, D, Caron, O, Caux, F, Collignon, P, Coupier, I, Cremin, C, Dollfus, H, Dugast, C, Escudier, B, Faivre, L, Field, M, Gilbert-Dussardier, B, Janin, N, Leport, Y, Leroux, D, Lipsker, D, Malthieu, F, McGilliwray, B, Maugard, C, M茅jean, A (2011) Novel FH mutations in families with HLRCC an patient with isolated type 2 papillary renal cell carcinoma. J Med Genet 48: pp. 226-234 CrossRef
  4. Alam, NA, Barclay, E, Rowan, AJ, Tyrer, JP, Calonje, E, Manek, S, Kelsell, D, Leigh, I, Olpin, S, Tomlinson, IP (2005) Clinical features of multiple cutaneous and uterine leiomyomatosis: an underdiagnosed syndrome. Arch Dermatol 141: pp. 199-206
  5. Holst, VA, Junkins-Hopkins, JM, Elenitsas, R (2002) Cutaneous smooth muscle neoplasms: clinical features, histologic findings, and treatment options. J Am Acad Dermatol 46: pp. 477-490 CrossRef
  6. Cook-Norris, RH, Rodriguez, AO, Kovach, BT, Boyd, AS, Zic, JA (2010) Segmental cutaneous piloleiomyomata. Skinmed 8: pp. 238-239
  7. Ponti, G, Pellacani, G, Seidenari, S, Pollio, A, Muscatello, U, Tomasi, A (2012) Cancer-associated genodermatoses: Skin neoplasms as clues to hereditary tumor syndromes. Crit Rev Oncol Hematol 07: pp. 001
  8. Emer, JJ, Solomon, S, Mercer, SE (2011) Reed's Syndrome: A case of multiple cutaneous and uterine leiomyomas. J Clin Aesthet Dermatol 4: pp. 37-42
  9. Paschoal, FM, Gargantini Rezze, G (2012) Dermoscopic findings in a patient with multiple piloleiomyomas. Dermatol Pract Concept 2: pp. 6 CrossRef
  10. Farache Camara, M, Moura Rossiter Pinheiro, P, Dantas Jales, R, da Trindade Bezerra Neto, P, Bastos Costa, J, de Sousa VL, LR (2013) Multiple dermatofibromas: Dermoscopic patterns. Indian Journal of Dermatology 58: pp. 243 CrossRef
  11. Scope, A, Benvenuto-Andrade, C, Agero, AL, Marghoob, AA (2006) Nonmelanocytic Lesions Defying the Two-Step Dermoscopy Algorithm. Dermatol Surg 32: pp. 1398-1406 CrossRef
  12. Smit, DL, Mensenkamp, AR, Badeloe, S, Breuning, MH, Simon, ME, van Spaendonck, KY, Aalfs, CM, Post, JG, Shanley, S, Krapels, IP, Hoefsloot, LH, Van Moorselaar, RJ, Starink, TM, Bayley, JP, Frank, J, Van Steensel, MA, Menko, FH (2011) Hereditary leiomyomatosis and renal cell cancer in families referred for fumarate hydratase germline mutation analysis. Clin Genetics 79: pp. 49-59 CrossRef
  13. Campione, E, Terrinoni, A, Orlandi, A, Codispoti, A, Melino, G, Bianchi, L, Mazzotta, A, Garaci, FG, Ludovici, A, Chimenti, S (2007) Cerebral cavernomas in a family with multiple cutaneous and uterine leiomyomas associated with a new mutation in the fumarate hydratase gene. J Invest Dermatol 127: pp. 2271-2273 CrossRef
  14. Christenson, LJ, Smith, K, Arpey, CJ (2000) Treatment of multiple cutaneous leiomyomas with CO2 laser ablation. Dermatol Surg 26: pp. 319-322 CrossRef
  15. Sifaki, MK, Krueger-Krasagakis, S, Koutsopoulos, A, Evangelou, GI, Tosca, AD (2009) Botulinum toxin type A-treatment of a patient with multiple cutaneous piloleiomyomas. Dermatol 218: pp. 44-47 CrossRef
  16. Onder, M, Adiflen, E (2009) A new indication of botulinum toxin: leiomyoma-related pain. J Am Acad Dermatol 60: pp. 325-328 CrossRef
  17. The pre-publication history for this paper can be accessed here: http://www.biomedcentral.com/1471-5945/14/7/prepub
  
• 刊物主题：Dermatology; Internal Medicine;
• 出版者：BioMed Central
• ISSN：1471-5945

文摘

Background Hereditary syndromes frequently need the cooperation of different specialties to increase diagnostic competence. Multiple cutaneous and uterine leiomyomatosis syndrome is a rare autosomal dominant disorder caused by the mutations of the fumarate hydratase gene, demonstrated in 80 to 100 percent of affected individuals. This can be linked to an increased risk of renal cancer in both sexes. The skin involvement is described to highlight the diagnostic role of the cutaneous counterpart in identifying this rare syndrome. Case presentation A 37-year-old woman suffering from several uterine fibroids presented multiple, painful, papulo-nodules on her left subscapular side, both forearms and legs. The patient underwent surgery on six lesions: five were leiomyomas, whilst one was a dermatofibroma. Genetic sequencing did not evidence known fumarate hydratase gene mutations. Dermoscopy showed a brown delicate pigmented network and included leiomyomas among the non-melanocytic benign skin tumours featuring a dermatofibroma-like pattern. Abdominal computerized-tomography scan did not reveal renal cancer, but brain magnetic resonance imaging showed one asymptomatic cerebral cavernoma. The patient benefited from the surgical removal of the five larger cutaneous lesions and from gabapentin, which relieved her pain. Conclusions This observation highlights the usefulness of dermoscopy in the diagnosis of cutaneous leiomyomas disclosing multiple cutaneous and uterine leiomyomatosis syndrome. Dermoscopy should be performed for non-melanocytic multiple lesions mimicking leiomyomas in a large number of patients, to establish a strict classification and identify false negative cases or evaluate them as dermatofibromas. In this case, the dermatologist recognized the risk of renal cancer and cerebral cavernomas.