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Ruvalcaba-Myhre-Smith syndrome.
J C Gretzula1, O Hevia, L S Schachner
1Department of Dermatology, University of Miami School of Medicine, Florida.
Pediatric Dermatology
|February 1, 1988
Summary
Ruvalcaba-Myhre-Smith syndrome is a rare condition characterized by macrocephaly, penile pigmentations, and intestinal polyps. This review details new cases and expands on known features of this genetic disorder.
Area of Science:
- Genetics
- Dermatology
- Gastroenterology
Background:
- Ruvalcaba-Myhre-Smith syndrome (RMS) was first described in 1980.
- It is a rare genetic disorder affecting adult males.
Observation:
- The syndrome classically presents with macrocephaly, penile pigmented macules, and hamartomatous intestinal polyps.
- Eleven additional cases have been identified since its initial description.
- This study introduces two new cases of RMS.
Findings:
- The review focuses on cutaneous manifestations associated with RMS.
- Additional clinical features observed in patients are also detailed.
- This expands the understanding of the syndrome's phenotypic spectrum.
Implications:
- Improved diagnostic criteria for Ruvalcaba-Myhre-Smith syndrome.
- Enhanced clinical management strategies for affected individuals.
- Further research into the genetic basis and pathophysiology of RMS.