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RASopathies: Dermatologists' viewpoints.

Aparna Palit1, Arun C Inamadar2

  • 1Department of Dermatology, Venereology and Leprosy, All India Institute of Medical Sciences, Kalyani, West Bengal, India.

Indian Journal of Dermatology, Venereology and Leprology
|February 9, 2022
PubMed
Summary
This summary is machine-generated.

RASopathies are a group of genetic disorders caused by Ras/mitogen-activated protein kinase pathway dysregulation. This review details their cutaneous manifestations to aid dermatologists in diagnosis, especially when molecular testing is unavailable.

Keywords:
Capillary malformation-arteriovenous malformation syndromeCostello syndromeLegius syndromeNoonan syndromeRas/mitogen-activated protein kinase pathwaycardio-facio-cutaneous syndromeneurofibromatosis-1

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Area of Science:

  • Genetics
  • Dermatology
  • Pediatrics

Background:

  • Ras/mitogen-activated protein kinase (MAPK) pathway dysregulation causes RASopathies, a spectrum of genetic disorders.
  • Recognized RASopathies include Neurofibromatosis type 1, Noonan syndrome, and Costello syndrome, characterized by multi-organ tumors, hamartomas, and distinct facial features.
  • These conditions share common features like skeletal abnormalities, congenital heart disease, neurocognitive issues, and increased malignancy risk, often presenting with significant phenotypic overlap.

Purpose of the Study:

  • To describe the cutaneous manifestations of RASopathies within the context of multi-system involvement.
  • To provide dermatologists with a framework for diagnosing RASopathies based on skin lesions.
  • To assist in the work-up and diagnosis of RASopathies, particularly when advanced molecular testing is not accessible.

Main Methods:

  • Review of literature on RASopathies and their associated dermatological findings.
  • Analysis of clinical features, focusing on specific cutaneous manifestations.
  • Synthesis of information to correlate skin signs with systemic involvement.

Main Results:

  • Cutaneous manifestations are often the earliest indicators of RASopathies.
  • Specific skin lesions can help differentiate between various RASopathies.
  • Dermatologists play a crucial role in the initial identification and diagnosis of these complex genetic disorders.

Conclusions:

  • Cutaneous signs are vital for the early detection and diagnosis of RASopathies.
  • A comprehensive understanding of skin manifestations aids dermatologists in patient management.
  • Genetic counseling and multidisciplinary approaches are essential for optimal patient care in RASopathies.