Leopard syndrome Q87.1

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Synonym(s)

Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome; cardio-cutaneous syndrome; Lentiginosis-Profusa Syndrome; Lentiginosis progressive cardiomyopathic; Lentiginosis Syndrome; multiple lentigines syndrome; progressive cardiomyopathic lentiginosis

History
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Zeisler and Becker, 1936; Moynahan, 1962; Gorlin (acronym: LEOPARD), 1969

Definition
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Acronym for a clinical constellation of the individual symptoms

  • Lentiginosis
  • electrocardiographic disturbances
  • ocular hypertelorism
  • Pulmonary Stenosis
  • Abnormalities of the genitals
  • retardation of growth
  • Deafness.

Always present are multiple lentigines, associated with various internal changes. See also Lentiginosis.

The LEOPARD syndrome/Noonan syndrome belongs to the family of familial lentiginosis syndromes. This family also includes the following syndromes:

Occurrence/Epidemiology
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Very rare syndrome; there are currently about 200 documented cases of the syndrome worldwide.

Etiopathogenesis
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Autosomal-dominantly inherited, different expressiveness, variable penetrance. Mutations of the PTPN11 gene (gene locus: 12q24.1) were described. Pathogenetically, the possibility of a neuroectodermal disorder with pleiotropic effect on tissue of mesodermal origin is discussed. Mutations in the PTPN11 gene are also described in Noonan syndrome. PTPN11 is an oncogene. Its gene product SHP-2 plays a role in the embryonic development of heart, blood cells and bones. In cases where no PTPN11 mutation can be detected, mutations of RAF1 (3%) may be present. S.a. RASopathies.

Clinical features
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  • Integument: Pronounced lentiginosis with 2-8 mm brownish spots in very dense sowing on the trunk and in smaller distribution on the rest of the body.
  • Extracutaneous manifestations: ECG alterations (conduction disorders with thigh block, non-specific disturbance of excitation propagation). Ocular hypertelorism, more rarely other craniofacial malformations; valvular pulmonary stenosis, sometimes combined with aortic stenosis; abnormalities in the genital area such as bilateral cryptorchidism, further in men hypoplasia of the genitals with hypospadias, in women hypoplastic ovaries; retardation of growth with dwarfism; sensoneural hearing loss or deafness.

Differential diagnosis
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Peutz-Jeghers syndrome; gastrocutaneous syndrome; Carney syndrome.

Therapy
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Clarification and, if necessary, treatment of concomitant diseases. Dermatological therapy is usually not necessary.

Progression/forecast
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The probability of malignant degeneration of the lentigines is not increased.

Literature
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  1. Bezniakow N et al (2014) The RASopathies as an example of RAS/MAPK pathway disturbances - clinical presentation and molecular pathogenesis of selected syndromes. Dev Period Med 18:285-296
  2. Capute AJ, Rimoin DL, Konigsmark BW et al (1969) Congenital deafness and multiple lentigines. Arch Derm 100: 207-213
  3. Choi WW et al (2003) LEOPARD syndrome with a new association of congenital corneal tumor, choristoma. Pediatric dermatol 20: 158-160
  4. Gorlin RJ, Anderson RC, Blaw M (1969) Multiple lentigines syndrome. Complex comprising multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities of genitalia, retardation of growth, sensorineural deafness, and autosomal dominant hereditary pattern. Am J Dis Child 117: 652-662
  5. Karbach J et al (2012) Case report: Noonan syndrome with multiple giant cell lesions and review of the literature. Am J Med Genet A 158A: 2283-2289
  6. Legius E et al (2002) PTPN11 mutations in LEOPARD syndrome. J Med Genet 39: 571-574
  7. Moynahan EJ (1970) Progressive cardiomyopathic lentiginosis: First report of autopsy findings in a recently recognized inheritable disease (autosomal dominant). Proc R Soc Med (London) 63: 448-451
  8. Petter G et al (2002) Multiple lentigines (LEOPARD) syndromes. Case reports and review of the Literature. dermatologist 53: 403-408
  9. Smpokou P et al (2014) Malignancy in Noonan syndrome and related disorders. Clin Genet 88:516-522
  10. Staub J et al (2011) Type 1 of LEOPARD syndrome in a 53-year-old patient. 46th DDG meeting: 10.1111/y. 1610-0387. 2011.07633. DK 01
  11. Vehring KH, Kretzschmar L, Hamm H (1991) The LEOPARD syndrome - a generalized lentiginosis with indicator function. Nude Dermatol 17: 85-88
  12. Zeisler EP, Becker SW (1936) Generalized lentigo: its relation to systemic nonelevated nevi. Arch Dermatol 33: 109-125

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Last updated on: 29.10.2020