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Patient with confirmed LEOPARD syndrome developing multiple melanoma.

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  • 1Department of Dermatology, Cliniques Universitaires Saint-Luc, Université Catholique de Louvain, Brussels, Belgium.

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Summary

Noonan syndrome with multiple lentigines (NSML), or LEOPARD syndrome, is linked to PTPN11 mutations. This case highlights a rare association with melanoma development, offering insights into diagnosis and management.

Keywords:
LEOPARD syndromedermoscopymelanomas

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Area of Science:

  • Genetics
  • Dermatology
  • Cardiology

Background:

  • Noonan syndrome with multiple lentigines (NSML), also known as LEOPARD syndrome, is a rare genetic disorder.
  • It is characterized by lentigines, electrocardiographic abnormalities, ocular hypertelorism, pulmonary stenosis, genital abnormalities, growth retardation, and sensorineural deafness.
  • NSML is primarily caused by germline mutations in the PTPN11 gene, occurring in 85% of affected individuals.

Purpose of the Study:

  • To report a rare case of melanoma development in a patient with LEOPARD syndrome.
  • To investigate the genetic basis of LEOPARD syndrome in the presented patient.
  • To describe the clinical and dermoscopic features of melanomas associated with NSML.

Main Methods:

  • Molecular investigation to identify PTPN11 gene mutations.
  • Clinical examination and diagnosis of LEOPARD syndrome.
  • Dermoscopic examination of skin lesions, including melanomas and atypical lentiginous hyperplasias.

Main Results:

  • The patient was diagnosed with LEOPARD syndrome and a c.1403C>T mutation in exon 12 of the PTPN11 gene was confirmed.
  • The patient developed four superficial spreading melanomas and three atypical lentiginous hyperplasias.
  • Dermoscopy revealed characteristic white structures in most lesions, aiding in diagnosis.

Conclusions:

  • The association between NSML and melanoma, though rare, warrants clinical attention.
  • Early diagnosis and monitoring are crucial for patients with NSML, particularly regarding potential melanoma development.
  • Characteristic dermoscopic findings may assist in identifying suspicious lesions in NSML patients.