Preprint Review Version 1 Preserved in Portico This version is not peer-reviewed

Cutaneous Manifestations in Costello Syndrome: From Atopic Dermatitis to Cutaneous Papilloma

Version 1 : Received: 24 September 2024 / Approved: 25 September 2024 / Online: 26 September 2024 (07:40:15 CEST)

How to cite: Anthony, M. R.; Farkouh, C.; Abdi, P.; Amatul-Hadi, F.; Kooner, A.; Dolehide, C. Cutaneous Manifestations in Costello Syndrome: From Atopic Dermatitis to Cutaneous Papilloma. Preprints 2024, 2024092052. https://doi.org/10.20944/preprints202409.2052.v1 Anthony, M. R.; Farkouh, C.; Abdi, P.; Amatul-Hadi, F.; Kooner, A.; Dolehide, C. Cutaneous Manifestations in Costello Syndrome: From Atopic Dermatitis to Cutaneous Papilloma. Preprints 2024, 2024092052. https://doi.org/10.20944/preprints202409.2052.v1

Abstract

Abstract Background Costello syndrome (CS) is a rare RASopathy caused by a mutation in the proto-oncogene gene HRAS located on chromosome 11p15.5. It is characterized by failure to thrive, intellectual disability, coarse facies, and various cardiovascular, musculoskeletal, and dermatological abnormalities. Aims This literature review describes the various dermatological manifestations of CS in hopes of guiding dermatologists to recognize this rare neurocutaneous syndrome promptly and achieving better patient outcomes. Methods PubMed, MEDLINE, and Scopus were utilized to search for articles and studies on the dermatological features and disorders present in CS. Articles were selected and screened primarily by two reviewers. In the initial article selection process, a third reviewer was included in times of contradiction between the two primary reviewers. Twenty-three articles were ultimately included for analysis. Results CS presents myriad dermatological manifestations, the most characteristic being fine, curly to wavy hair, thick, bushy eyebrows, thin but fast-growing nails, cutaneous papillomas, and loose and redundant skin. Significant cutaneous pathologies associated with CS include eczema, acanthosis nigricans, nevi, coarse facies, and hyperpigmentation. Individuals with CS are also at increased risk for heat intolerance, hyperhidrosis, and photosensitivity. Conclusions Dermatologists must be aware of CS and its dermatological manifestations to efficiently treat the comorbidities involved with this rare neurodevelopmental disorder. CS can present similarly to Cardio-facial-cutaneous syndrome, Noonan syndrome, William syndrome, and Beckwith-Wiedemann syndrome; thus, a keen understanding of the cutaneous differences amongst the syndromes may aid in accurate diagnosis.

Keywords

eczema; atopic dermatitis; chronic dermatoses; Costello syndrome RASopathy; Noonan syndrome; Cardio-facial-cutaneous syndrome; Cutaneous papilloma; HRAS; William syndrome; Beckwith-Wiedemann syndrome

Subject

Biology and Life Sciences, Biochemistry and Molecular Biology

Comments (0)

We encourage comments and feedback from a broad range of readers. See criteria for comments and our Diversity statement.

Leave a public comment
Send a private comment to the author(s)
* All users must log in before leaving a comment
Views 0
Downloads 0
Comments 0


×
Alerts
Notify me about updates to this article or when a peer-reviewed version is published.
We use cookies on our website to ensure you get the best experience.
Read more about our cookies here.