[en] The LEOPARD syndrome is an exceptional autosomal dominant genetic disease with a missence mutation of the PTPN11 gene in more than 90% of the cases. The principal clinical manifestations include extensive lentiginosis, heart conduction abnormalities, hypertrophic obstructive cardiomyopathy, ocular hypertelorism, pulmonary stenosis, genital anomalies, mental retardation, growth retardation and deafness. A woman with a LEOPARD syndrome illustrates the progressive development of melanocytic nevi. In fact, the majority of lentigines are actually melanocytic nevi. Seqential digital demroscopy evidences progressive growth of some melanocytic lesions. The ever-increasing number of melanocytic nevi in the LEOPARD syndrome is a risk factor for melanoma and full body photography and dermoscopy are recommended for follow-up.
Disciplines :
Dermatologie
Auteur, co-auteur :
CAO, Sandrine ; Centre Hospitalier Universitaire de Liège - CHU > Dermatologie
NIKKELS, Arjen ; Centre Hospitalier Universitaire de Liège - CHU > Dermatologie
Langue du document :
Anglais
Titre :
Dermatologic Manifestations of the LEOPARD Syndrome
Sarkozy A, Digilio MC, Dallapiccola B. Leopard syndrome. Orphanet J Rare Dis 2008; 3: 13.
Gorlin RJ, Anderson RC, Blaw M. Multiple lentigines syndrome. Am J Dis Child 1969; 117: 652-62.
Kratz CP, Rapisuwon S, Reed H, Hasle H, Rosenberg PS. Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. Am J Med Genet C Semin Med Genet 2011; 157: 83-9.
Kato H, Yoshida R, Tsukamoto K, et al. Familial cases of atypical clinical features genetically diagnosed as LEOPARD syndrome (multiple lentigines syndrome). Int J Dermatol 2010; 49: 1146-51.
Coppin BD, Temple IK. Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis). J Med Genet 1997; 34: 582-6.
Lodish MB, Stratakis CA. The differential diagnosis of familial lentiginosis syndromes. Fam Cancer 2011; 10: 481-90.
Denayer E, Legius E. What's new in the neuro-cardio-facialcutaneous syndromes? Eur J Pediatr 2007; 166:1091-8.
Gelb BD, Tartaglia M. LEOPARD Syndrome. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, Eds. Seattle (WA): Gene Reviews 1993. Gene Rev 2007; 2010: 16.
Koudova M, Seemanova E, Zenker M. Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence. Eur J Med Genet 2009; 52: 337-40.
Seishima M, Mizutani Y, Shibuya Y, Arakawa C, Yoshida R, Ogata T. 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.
Jurecka W, Gebhart W, Knobler R, Schmoliner R, Möslacher H. The leopard syndrome, a cardio-cutaneous syndrome. Wien Klin Wochenschr 1983; 95: 652-6.
Salerni G, Carrera C, Lovatto L, Puig-Butille JA, Badenas C, Plana E, Puig S, Malvehy J. Benefits of total body photography and digital dermatoscopy ("two-step method of digital follow-up") in the early diagnosis of melanoma in patients at high risk for melanoma. J Am Acad Dermatol. 2012; 67: e17-27.
Kontoes PP, Vlachos SP, Marayiannis KV. Intense pulsed light for the treatment of lentigines in LEOPARD syndrome. Br J Plast Surg 2003; 56: 607-10.
