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Café au lait macules and juvénile polyps.
Theresa R Pacheco1, Lisa S Scatena, Edward J Hoffenberg
1Department of Dermatology, University of Colorado at Denver and the Health Sciences Center, Aurora,Colorado, USA. theresa.pacheco@uchsc.edu
Pediatric Dermatology
|May 19, 2007
Summary
Children with juvenile polyposis showed a higher prevalence of café-au-lait macules. This study highlights a potential link between gastrointestinal polyps and skin hyperpigmentation in pediatric patients.
Area of Science:
- Pediatric Gastroenterology
- Dermatology
- Genetics
Background:
- Gastrointestinal polyposis syndromes often present with extra-intestinal manifestations, including skin findings.
- Limited data exists on cutaneous features associated with juvenile polyposis.
Purpose of the Study:
- To determine the prevalence of cutaneous hyperpigmented lesions, specifically café-au-lait macules, in children with juvenile polyposis and their relatives.
- To investigate potential associations between juvenile polyposis and specific dermatological markers.
Main Methods:
- A case series involving children with various polyposis types (juvenile polyposis coli, sporadic juvenile polyps, familial adenomatous polyposis coli) and their first-degree relatives.
- Comprehensive skin examinations were conducted on consenting participants.
Main Results:
- 8 out of 14 patients (57.1%) had at least one café-au-lait macule, significantly higher than the general population.
- 4 out of 14 patients (28.6%) had multiple café-au-lait macules, also significantly higher than the general population.
- Two patients with juvenile polyposis coli also presented with lentigines.
Conclusions:
- A high proportion of children with juvenile polyposis exhibit café-au-lait macules.
- Further research is warranted to explore a potential common pathway between hamartomatous polyps and café-au-lait macules.
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