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European Journal of Pediatrics

, Volume 169, Issue 4, pp 469–473 | Cite as

LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature

  • Ingrid KalevEmail author
  • Kai Muru
  • Rita Teek
  • Riina Zordania
  • Tiia Reimand
  • Kristel Köbas
  • Katrin Õunap
Original Paper

Abstract

LEOPARD syndrome (LS) is a heterogeneous disease characterised mainly by cutaneous manifestations. LEOPARD is the acronym for its major features—multiple lentigines, electrocardiographic conduction defects, ocular hypertelorism, pulmonary stenosis, abnormalities of (male) genitalia, retardation of growth and sensorineural deafness. As clinical manifestations are variable, molecular testing is supportive in the diagnosis of LS. We describe two unrelated LS cases with a common PTPN11 mutation Y279C and with completely different clinical features including distinct changes in skin pigmentation. In patient 1, the first complaint was hyperactive behaviour. First lentigines were presented at birth, but intensive growth began at the age of 2–4 years. Multiple dark lentigines were located mainly on the face and the upper part of the trunk, but the oral mucosa was spared. Patient 2 was born from induced labour due to polyhydramnion, and in the second week of life, mitral valve insufficiency and hypertrophic cardiomyopathy were diagnosed. Rapid growth of lentigines began at the age of 3 years. These are mostly located in the joint areas in the lower extremities; the face and upper trunk are spared from lentigines. In both cases, the rapid growth of lentigines made it possible to shift the diagnosis towards LS. Clinicians should give more consideration to rare genetic syndromes, especially in the case of symptoms from different clinical areas.

Keywords

LEOPARD syndrome PTPN11 gene Y279C SHP-2 Multiple lentigines 

Abbreviations

SHP-2

src homology-2 (SH2)-containing protein tyrosine phosphatase (PTP)

PTPN11

Protein-tyrosine phosphatase, non-receptor type 11

Notes

Acknowledgements

The authors are grateful to the patients and their families for their participation. This study was supported by grants from the Estonian Science Foundation GARMP 6573, GARLA 6808 and by target financing grant SF 0180096s08.

Conflict of interest statement

The authors declare no competing financial interests.

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Copyright information

© Springer-Verlag 2009

Authors and Affiliations

  • Ingrid Kalev
    • 1
    Email author
  • Kai Muru
    • 2
    • 3
  • Rita Teek
    • 2
    • 4
  • Riina Zordania
    • 5
  • Tiia Reimand
    • 2
    • 3
  • Kristel Köbas
    • 6
  • Katrin Õunap
    • 2
    • 3
  1. 1.Department of Human Biology and Genetics, Institute of General and Molecular PathologyUniversity of TartuTartuEstonia
  2. 2.Department of Genetics, United LaboratoriesTartu University HospitalTartuEstonia
  3. 3.Department of PediatricsUniversity of TartuTartuEstonia
  4. 4.Department of Oto-Rhino-LaryngologyUniversity of TartuTartuEstonia
  5. 5.Children’s HospitalTallinnEstonia
  6. 6.Children’s ClinicTartu University HospitalTartuEstonia

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