RESUMO
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.
RESUMO
Permanent sterilization using intratubal implants is becoming increasingly popular worldwide. We report the first case of a 40-year-old woman presenting a systemic contact dermatitis due to nickel-containing intratubal implants: the Essure system. The diagnosis was confirmed with positive patch test result for nickel and total clearance of dermatitis after removing the implants that contain a metallic spiral of nitinol (alloy of 55% nickel and 45% titanium). Systemic contact dermatitis to the intratubal implants could be explained by the corrosion of nitinol after implantation resulting in the release of nickel. In the literature, no similar case has been reported despite the introduction of intratubal implants since 2002. Dermatologists and gynecologists need to be aware of this type of complication. In practice, a thorough assessment for possible nickel contact dermatitis in a woman undergoing sterilization with Essure is recommended. Preoperative patch testing must be carried out if there is any doubt.
