Related Experiment Video
Updated: Jul 14, 2026

Anterior High-Resolution Optical Coherence Tomography in the Diagnosis and Therapeutic Monitoring of Ocular Surface Squamous Neoplasia
Published on: August 9, 2024
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
Insights
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.
Abstract:
Several hereditary and nonhereditary gastrointestinal tract polyposis syndromes exhibit extra-intestinal manifestations, including cutaneous findings. However, a lack of information exists regarding cutaneous features of juvenile polyposis. Our objective was to document the prevalence of cutaneous hyperpigmented lesions in children with juvenile polyposis coli or juvenile polyposis coli and their first degree relatives.Children seen in the gastroenterology practice at The Children's Hospital in Denver, Colorado with polyps (juvenile polyposis coli, sporadic juvenile polyps, and familial adenomatous polyposis coli) and their first degree relatives were invited to participate in the study. A comprehensive skin examination was performed on those who consented to participate. We found that 8 of 14 patients (eight with juvenile polyposis coli, four with juvenile polyposis, and two with familial adenomatous polyposis coli) had at least one café-au-lait macule, compared with three of 27 relatives (p=0.003).The prevalence of at least one café-au-lait macule in our patients (8/14 or 57.1%, CI: 28.9–82.3%) was significantly higher than the general population prevalence of 28.5% (p=0.023). However, if the two patients with familial adenomatous polyposis coli were excluded, the comparison with the general population prevalence did not reach statistical significance (p=0.095). The prevalence of multiple cafe´-au-lait macules in our patients (4/14 or 28.6%; CI:8.4–58.1%) was significantly higher than the general population prevalence of 5.2% (p ¼ 0.005). A notable finding was the presence of multiple café -au-lait macules in 4 of 12 juvenile polyposis coli/juvenile polyposis patients.Two patients with juvenile polyposis coli also had lentigines. In this selected case series, we observed single or multiple café-au-lait macules in a high proportion of children with the three types of polyps. Further studies are needed to assess a possible common pathway for hamartomatous polypsand café-au-lait macules.
Related Concept Videos
Skin Cancer
Basal Cell Carcinoma (BCC): BCC is the most common type of skin cancer, accounting for about 80% of cases. It typically develops in...
Papillary Dermis
The dermis might be considered the "core" of the integumentary system, as distinct from the epidermis and hypodermis. It contains blood and lymph vessels, nerves, and other structures, such as hair follicles and sweat glands. The dermis is made of two layers of connective tissue that comprise an interconnected mesh of elastin and collagenous fibers, produced by fibroblasts.
Papillary Layer
The papillary layer is made of loose, areolar connective tissue, which means the collagen and...
Changes in Skin Color: Clinical Perspectives
Albinism
Albinism is a genetic disorder that affects (completely or partially) the coloring of skin, hair, and eyes. The defect is primarily...
Skin Diseases and Disorders
Gram-positive Staphylococcus spp. and Streptococcus spp. are responsible for many of the most common skin infections. However, many...
Jaundice
Abnormal Proliferation
