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Abstract

LEOPARD syndrome is a complex dysmorphogenetic disorder transmitted as an autosomal dominant trait with variable penetrance and expressivity. In recent years this multifaceted syndrome has attracted the interest of dermatologists, pediatricians, neurologists, cardiologists, endocrinologists, orthopedists, and radiologists.

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References

  • Bonioli E, Di Stefano A, Costabel S, Bellini C (1999) Partial agnesis of corpus callosum in LEOPARD syndrome. Int J Dermatol 38: 855–862.

    Article  PubMed  CAS  Google Scholar 

  • Carney JA, Headington JT, Su WPD (1986) Cutaneous myxomas. A major component of the complex of myxomas, spotty pigmentation, and endocrine overactivity. Arch Dermatol 122: 790–798.

    Article  PubMed  CAS  Google Scholar 

  • Cetinkaya E, Günal N, Sönmez N, Aycan Z, Vidinlisan S, Kahramanyol O, Paşaoğlu I (2004) LEOPARD syndrome and hypertrophic obstructive cardiomyopathy: a case report.Turk J Pediatr 46(4): 373–376.

    PubMed  Google Scholar 

  • Choi WW, Yoo JY, Park KC, Kim KH (2004) Leopard syndrome with a new association of congenital corneal tumor, choristoma. Pediatr Dermatol 20(2): 158–160.

    Article  Google Scholar 

  • Chong WS, Klanwarin W, Giam YC (2004) Generalized lentiginosis in two children lacking systemic associations: case report and review of the literature. Pediatr Dermatol 21(2): 139–145.

    Article  PubMed  Google Scholar 

  • Conti E, Dottorini T, Sarkozy A, Tiller GE, Esposito G, Pizzuti A, Dallapiccola B (2003) A novel PTPN11 mutation in LEOPARD syndrome. Hum Mutat 21(6): 654.

    Article  PubMed  CAS  Google Scholar 

  • Danoff A, Jormak S, Lorber D, Fleischer N (1987) Adrenocortical micronodular dysplasia, cardiac myxomas, lentigines and spindle cell tumors. Arch Intern Med 147: 443–448.

    Article  PubMed  CAS  Google Scholar 

  • David LM (1973) Multiple lentigines syndrome. Arch Dermatol 108: 590.

    Google Scholar 

  • Digilio MC, Conti E, Sarkozy A, Mingarelli R, Dottorini T, Marino B, Pizzuti A, Dallapiccola B (2002) Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. Am J Hum Genet 71(2): 389–394.

    Article  PubMed  CAS  Google Scholar 

  • Digilio MC, Pacileo G, Sarkozy A, Limongelli G, Conti E, Cerrato F, Marino B, Pizzuti A, Calabro R, Dallapiccola B (2004) Familial aggregation of genetically heterogeneous hypertrophic cardiomyopathy: a boy with LEOPARD syndrome due to PTPN11 mutation and his nonsyndromic father lacking PTPN11 mutations. Birth Defects Res Part A Clin Mol Teratol 70(2): 95–98.

    Article  PubMed  CAS  Google Scholar 

  • Digilio MC, Capolino R, Marino B, Sarkozy A, Dallapiccola B (2005) Congenital intrahepatic portosystemic venous shunt: an unusual feature in LEOPARD syndrome and in neurofibromatosis type 1. Am J Med Genet A 134(4): 457–458.

    PubMed  Google Scholar 

  • Digilio MC, Sarkozy A, de Zorzi A, Pacileo G, Limongelli G, Mingarelli R, Calabro R, Marino B, Dallapiccola B. (2006a) LEOPARD syndrome: clinical diagnosis in the first year of life. Am J Med Genet A 140: 740–746.

    PubMed  Google Scholar 

  • Digilio MC, Sarkozy A, Pacileo G, Limongelli G, Marino B, Dallapiccola B (2006b) PTPN11 gene mutations: linking the Gln510Glu mutation to the “LEOPARD syndrome phenotype”. Eur J Pediatr 165: 803–805.

    Article  PubMed  CAS  Google Scholar 

  • Garty BZ, Waisman Y, Weitz R (1989) Gertsmann tetrad in leopard syndrome. Pediatr Neurol 5: 391–392.

    Article  PubMed  CAS  Google Scholar 

  • Gorlin RJ, Anderson RC, Blaw M (1969) Multiple lentigines syndrome. Am J Dis Child 117: 652–662.

    PubMed  CAS  Google Scholar 

  • Gorlin RJ, Anderson RC, Moller JH (1971) The Leopard (multiple lentigines) syndrome revisited. Birth Defects Orig Artic Ser 7: 110–115.

    CAS  Google Scholar 

  • Hagspiel KD, Candinas RC, Hagspiel HJ, Amann FW (2005) LEOPARD syndrome: cardiac imaging findings. Am J Roentgenol 184(3 Suppl.): S21–S24.

    CAS  Google Scholar 

  • Ho IC, O’Donnell D, Rodrigo C (1989) The occurrence of supranumerary teeth with isolated, non-familial Leopard (multiple lentigines) syndrome: report of case. Spec Care Dentist 9: 200–202.

    Article  PubMed  CAS  Google Scholar 

  • Jóźwiak S, Schwartz RA, Krysicka-Janniger C, Zaremba J (1998) Familial occurrence of the LEOPARD syndrome. Int J Dermatol 37: 48–51.

    Article  PubMed  Google Scholar 

  • Kalidas K, Shaw AC, Crosby AH, Newbury-Ecob R, Greenhalgh L, Temple IK, Law C, Patel A, Patton MA, Jeffery S (2005) Genetic heterogeneity in LEOPARD syndrome: two families with no mutations in PTPN11. J Hum Genet 50(1): 21–25.

    Article  PubMed  CAS  Google Scholar 

  • Kontoes PP, Vlachos SP, Marayiannis KV (2003) Intense pulsed light for the treatment of lentigines in LEOPARD syndrome. Br J Plast Surg 56(6): 607–610.

    Article  PubMed  CAS  Google Scholar 

  • Lamy M, De Grouchy J, Schneisguth O (1957) Genetic and non-genetic factors in the etiology of congenital heart disease: a study of 1,188 cases. Am J Hum Genet 9: 17–41.

    PubMed  CAS  Google Scholar 

  • Legius E, Schrander-Stumpel C, Schollen E, Pulles-Heintzberger C, Gewillig M, Fryns JP (2002) PTP11 mutations in LEOPARD syndrome. J Med Genet 39(8): 571–574.

    Article  PubMed  CAS  Google Scholar 

  • Limongelli G, Pacileo G, Calabro R (2006) Is sudden cardiac death predictable in LEOPARD syndrome? Cardiol Young 16(6): 599–601.

    Article  PubMed  Google Scholar 

  • Limongelli G, Sarkozy A, Pacileo G, Calabrò P, Digilio MC, Maddaloni V, Gagliardi G, Di Salvo G, Iacomino M, Marino B, Dallapiccola B, Calabrò R (2008) Genotype-phenotype analysis and natural history of left ventricular hypertrophy in LEOPARD syndrome. Am J Med Genet A 146: 620–628.

    Google Scholar 

  • McKenna WJ, Oakley CM, Krikler DM, Goodwin JF (1985) Improved survival with amiodarone in patients with hypertrophic cardiomyopathy and ventricular tachycardia. Br Heart J 53: 412–416.

    Article  PubMed  CAS  Google Scholar 

  • Merks JH, Caron HN, Hennekam RC (2005) High incidence of malformation syndromes in a series of 1,073 children with cancer. Am J Med Genet A 134(2): 132–143.

    Google Scholar 

  • Moynahan EJ (1962) Multiple symmetrical moles, with psychic and somatic infantilism and genital hypoplasia: first male case of a new syndrome. Proc R Soc Med 55: 959–960.

    CAS  PubMed  Google Scholar 

  • Nordlund JJ, Lerner AB, Braverman IM, Mc Guire JS (1973) The multiple lentigines syndrome. Arch Dermatol 107: 259.

    Article  PubMed  CAS  Google Scholar 

  • Pacheco TR, Oreskovich N, Fain P (2004) Genetic heterogeneity in the multiple lentigines/LEOPARD/Noonan syndromes. Am J Med Genet 127A(3): 324–326.

    Article  PubMed  Google Scholar 

  • Pennelli GM, Guolo S, Pavoncello S, Ferraris AM (1988) La syndrome della lentigginosi multipla o syndrome “Leopard”. Presentazione di un caso clinico. Minerva Med 79: 575–578.

    PubMed  CAS  Google Scholar 

  • Pipkin AC, Pipkin SB (1950) A pedigree of a generalized lentigo. J Hered 41: 79–83.

    PubMed  CAS  Google Scholar 

  • Polani PE, Moynahan EJ (1972) Progressive cardiomyopathic lentiginosis. Quart J Ed 41: 205–225.

    CAS  Google Scholar 

  • Rosen I (1942) Society transactions. Manhattan Dermatologic Society. Generalized lentigo. Arch Dermatol Syphilol 45: 979–980.

    Google Scholar 

  • Ruiz-Maldonado R, Trevizo L, Tamayo L, de los Rios MF, Skurovich M, Carrillo J, Dominguez D, del Castillo V (1983) Progressive cardiomyopathic lentignosis. Report of six cases and one autopsy. Pediatr Dermatol 1: 146–153.

    Article  PubMed  CAS  Google Scholar 

  • Sarkozy A, Conti E, Cristina Digilio MC, Marino B, Morini E, Pacileo G, Wilson M, Calabro R, Pizzuti A, Dallapiccola B (2004) Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome. J Med Genet 41: e68.

    Article  PubMed  CAS  Google Scholar 

  • Shamsadidni S, Abazardi H, Shamsadini F (1999) Leopard syndrome. Lancet 354: 1530.

    Article  Google Scholar 

  • Sheehy EC, Soneji B, Longhurst P (2000) The dental management of a child with LEOPARD syndrome. Int J Paediatr Dent 10(2): 158–160.

    Article  PubMed  CAS  Google Scholar 

  • Slater C, Hayes M, Saxe N, Temple-Camp C, Beighton P (1986) Macromelanosomes in the early diagnosis of neurofibromatosis. Am J Dermatopathol 8: 284–289.

    Article  PubMed  CAS  Google Scholar 

  • Swanson SL, Santen RJ, Smith DW (1971) Multiple lentigines syndrome. New findings of hypogonadotropism, hyposmia and unilateral renal agenesis. J Pediatr 78: 1032–1042.

    Google Scholar 

  • Voron DA, Hatfield HH, Kalkhoff RK (1976) Multiple lentigines syndrome. Case report and review of the literature. Am J Med 60: 447–456.

    Article  PubMed  CAS  Google Scholar 

  • Watson GH (1967) Pulmonary stenosis, café-au-lait spots and dull intelligence. Arch Dis Child 42: 303–307.

    Article  PubMed  CAS  Google Scholar 

  • Wilsher ML, Rohe AHG, Neutze JM, Synek BJ, Holdaway IM, Nicholson GI (1986) A familial syndrome of cardiac myxomas, myxoid neurofibromata, cutaneous pigmented lesions and endocrine abnormalities. Aust NZ J Med 16: 393–396.

    CAS  Google Scholar 

  • Yagubyan M, Panneton JM, Lindor NM, Conti E, Sarkozy A, Pizzuti A (2004) LEOPARD syndrome: a new polyaneurysm association and an update on the molecular genetics of the disease. J Vasc Surg 39(4): 897–900.

    Article  PubMed  Google Scholar 

  • Zeisler EP, Becker SW (1936) Generalized lentigo: its relation to systemic nonelevated nevi. Arch Dermatol Syphilol 33: 109–125.

    Google Scholar 

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Jóźwiak, S. (2008). Leopard Syndrome. In: Ruggieri, M., Pascual-Castroviejo, I., Di Rocco, C. (eds) Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes. Springer, Vienna. https://doi.org/10.1007/978-3-211-69500-5_20

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  • DOI: https://doi.org/10.1007/978-3-211-69500-5_20

  • Publisher Name: Springer, Vienna

  • Print ISBN: 978-3-211-21396-4

  • Online ISBN: 978-3-211-69500-5

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