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RASopathies. Part II: Cutaneous and extracutaneous manifestations.

Zachary J Jaeger1, Natalia K A Maverakis Ramirez2, Ashley D Osborne3

  • 1Washington University School of Medicine, St. Louis, Missouri; Veterans' Affairs Caribbean Healthcare System, San Juan, Puerto Rico; University of California San Diego Department of Dermatology, San Diego, California.

Journal of the American Academy of Dermatology
|June 18, 2025
PubMed
Summary

Dermatologists can diagnose many RASopathies by recognizing skin findings. Early diagnosis and management by dermatologists are crucial for patient care and cancer surveillance.

Keywords:
CM-AVMCostelloECCLHRASKRASLEOPARDLegiusNF1NRASNoonanNoonan syndrome with multiple lentiginesRASRASopathiesRASopathySchimmelpenningcancercapillary malformation-arteriovenous malformationcardiofaciocutaneousencephalocraniocutaneous lipomatosisepidermal nevusgeneticsmalignancymultidisciplinaryneurofibromatosisoncogenephakomatosis pigmentokeratoticasebaceous nevustumor suppressor

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Area of Science:

  • Dermatology
  • Genetics
  • Oncology

Background:

  • RASopathies are genetic disorders often diagnosed via cutaneous manifestations.
  • Accurate differentiation is key for appropriate patient management.
  • These syndromes have diverse genetic origins, including tumor suppressor genes and oncogenes.

Purpose of the Study:

  • To equip dermatologists with knowledge to diagnose and manage RASopathies.
  • To highlight the role of dermatologists in early detection and surveillance.
  • To categorize common RASopathies based on genetic etiology.

Main Methods:

  • Clinical diagnosis based on cutaneous findings.
  • Categorization of RASopathies by genetic variants (tumor suppressor genes, oncogenes, mosaic conditions).
  • Review of extracutaneous manifestations and associated risks.

Main Results:

  • Common RASopathies include neurofibromatosis type 1, Noonan syndrome, Legius syndrome, and others.
  • Extracutaneous manifestations impact multiple organ systems.
  • Germline variants necessitate multidisciplinary care and genetic counseling.

Conclusions:

  • Dermatologists are pivotal in the early diagnosis of RASopathies.
  • Familiarity with cutaneous findings aids in prompt identification and management.
  • Recognizing cancer risks in RASopathy patients is essential for surveillance.