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Multiple painful papulo-nodular lesions: clinical pitfall.

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Summary

Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a rare genetic disorder. This case highlights its diagnosis in a patient with multiple painful skin lesions and a history of kidney cancer.

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Area of Science:

  • Oncology
  • Dermatology
  • Genetics

Background:

  • Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is an autosomal dominant cancer predisposition syndrome.
  • It is characterized by cutaneous leiomyomas and an increased risk of renal cell carcinoma (RCC).
  • Family history is crucial for identifying potential HLRCC cases.

Observation:

  • A 43-year-old male presented with numerous painful papulo-nodular skin lesions on his face, neck, and trunk.
  • The lesions had been present for 15 years and were associated with paresthesia.
  • The patient had a personal history of kidney cancer and a family history of leiomyomas and cancers.

Findings:

  • Dermoscopic and histologic evaluation of the skin lesions were performed.
  • Genetic analysis confirmed mutations associated with HLRCC.
  • The diagnosis of HLRCC was established based on clinical, pathological, and genetic findings.

Implications:

  • Early diagnosis of HLRCC is essential for timely cancer surveillance and management.
  • Understanding the genetic basis of HLRCC aids in family counseling and risk assessment.
  • This case underscores the importance of integrating dermatological findings with family history and genetic testing for rare hereditary syndromes.