AI Article Synopsis

  • The study aimed to clarify the dermatological features of Costello syndrome (CS) and distinguish them from other similar syndromes like cardiofaciocutaneous syndrome (CFCS) and types of Noonan syndrome (NS).
  • A ten-year multi-center study involving 31 patients found common skin and hair anomalies in CS, such as excessive eyebrows and various types of skin growths, which can help differentiate CS from CFCS and NS.
  • The findings propose multiple melanocytic naevi as a potential marker for a milder form of CS and suggest that acitretin could be beneficial for treating certain skin conditions, although no clear genotype-phenotype link was identified.

Article Abstract

Background: Data on dermatological manifestations of Costello syndrome (CS) remain heterogeneous and lack in validated description.

Objectives: To describe the dermatological manifestations of CS; compare them with the literature findings; assess those discriminating CS from other RASopathies, including cardiofaciocutaneous syndrome (CFCS) and the main types of Noonan syndrome (NS); and test for dermatological phenotype-genotype correlations.

Methods: We performed a 10-year, large, prospective, multicentric, collaborative dermatological and genetic study.

Results: Thirty-one patients were enrolled. Hair abnormalities were ubiquitous, including wavy or curly hair and excessive eyebrows, respectively in 68% and 56%. Acral excessive skin (AES), papillomas and keratotic papules (PKP), acanthosis nigricans (AN), palmoplantar hyperkeratosis (PPHK) and 'cobblestone' papillomatous papules of the upper lip (CPPUL), were noted respectively in 84%, 61%, 65%, 55% and 32%. Excessive eyebrows, PKP, AN, CCPUL and AES best differentiated CS from CFCS and NS. Multiple melanocytic naevi (>50) may constitute a new marker of attenuated CS associated with intragenic duplication in HRAS. Oral acitretin may be highly beneficial for therapeutic management of PPHK. No significant dermatological phenotype-genotype correlation was determined between patients with and without HRAS c.34G>A (p.G12S).

Conclusions And Relevance: This validated phenotypic characterization of a large number of patients with CS will allow future researchers to make a positive diagnosis, and to differentiate CS from CFCS and NS.

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Source
http://dx.doi.org/10.1111/jdv.19996DOI Listing

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