Patient with confirmed LEOPARD syndrome developing multiple melanoma
Keywords:
LEOPARD syndrome, melanomas, dermoscopyAbstract
LEOPARD syndrome, also known as Gorlin syndrome II, cardiocutaneous syndrome, lentiginosis profusa syndrome, Moynahan syndrome, was more recently coined as Noonan syndrome with multiple lentigines (NSML), inside the RASopathies. Historically, the acronym LEOPARD refers to the presence of distinctive clinical features such as: lentigines (L), electrocardiographic/conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), genital abnormalities (A), retardation of growth (R), and sensorineural deafness (D). This condition is identified in 85% of patients with phenotype hallmarks caused by presence a germline point mutation in PTPN11 gene. Association of melanoma to NSML seems to be rare: to our knowledge, two patients so far were reported in the literature. We herein present a patient diagnosed with LEOPARD syndrome, in whom molecular investigation confirmed the presence of the c.1403C>T mutation in exon 12 of the PTPN11 gene, who developed four superficial spreading melanomas and three atypical lentiginous hyperplasias. Three of the melanomas were achromic or hypochromic, three were in situ, and one had a Breslow index under 0.5 mm. Dermoscopic examination showed some characteristic white structures in most of the lesions, which were a signature pattern and a key for the diagnosis.
References
Sarkozy A, Digilio MC, Dallapiccola B, Leopard syndrome, Orphanet Journal of Rare Diseases 2008, 3:13
Lodish MB, Stratakis CA, The differential diagnosis of familial lentiginosis syndromes, fam cancer. 2011 Sep;10(3):481-90
Gaudy-Marqueste C, Perchenet AS, Taséi AM, et al., The "spaghetti technique": an alternative to Mohs surgery or staged surgery for problematic lentiginous melanoma (lentigo maligna and acral lentiginous melanoma), J Am Acad Dermatol. 2011 Jan;64(1):113-8
Swetter SM, Chen FW, Kim DD, Egbert BM, Imiquimod 5% cream as primary or adjuvant therapy for melanoma in situ, lentigo maligna type, J Am Acad Dermatol. 2015 Jun;72(6):1047-53.
Seishima M, Mizutani Y, Shibuya Y, et al., Malignant melanoma in a woman with LEOPARD syndrome: identification of a germline PTPN11 mutation and a somatic BRAF mutation. Br J Dermatol 2007;157:1297-9.
Yu-Pin Cheng, Hsien-Yi Chiu , Tzu-Lin Hsiao, et al., Scalp melanoma in a woman with LEOPARD syndrome possible implication of PTPN11 signaling in melanoma pathogenesis, J Am Acad Dermatol 2013, 69(4):e186-7
Lesinski GB, The potential for targeting the STAT3 pathway as a novel therapy for melanoma, Future Oncol. 2013;9(7):925-7
Bard-Chapeau EA1, Li S, Ding J, et al., Ptpn11 Shp2 Acts as a Tumor Suppressor, Cancer Cell. 2011 17;19(5):629-39
Published
Issue
Section
License
Dermatology Practical & Conceptual applies a Creative Commons Attribution License (CCAL) to all works we publish (http://creativecommons.org/licenses/by-nc/4.0/). Authors retain the copyright for their published work.