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Published on: October 20, 2019
Clinical characteristics of 47 children with pigmentary mosaicism: A cross-sectional study
A Yorulmaz1, Y Hayran1, A Akbas1
1Ankara Bilkent City Hospital, Department of Dermatology, Bilkent, Cankaya, Ankara, Turkey.
Background:
Pigmentary mosaicism (PM), also known as Blaschkoid dyspigmentation, is a rare pigmentary anomaly. Although several case reports have been published describing extracutaneous manifestations associated with PM, there are very few studies on the clinical characteristics of patients with PM.
Aim:
To describe the clinical characteristics of patients with PM.
Patients And Methods:
This descriptive cross-sectional study was conducted among 47 children examined by a dermatologist and a pediatrician. The pattern and location of the PM, type of pigmentation and extracutaneous manifestations were documented.
Results:
The most common pattern of PM was narrow-band PM, followed by broad-band and checkerboard patterns. The trunk was the most affected region, followed by the legs and arms. PM manifested as hypopigmentation in 51.1% of cases, as hyperpigmentation in 27.6%, and as hypo/hyperpigmentation in 21.2%. Accompanying diseases were present in 40.4% of patients: neuropsychiatric diseases were the most common, followed by endocrinological or hematological diseases and growth/developmental delay.
Conclusion:
PM has been associated with several extracutaneous findings but there is still some debate whether these associations reflect different PM phenotypes or whether they are simply coincidental. Our study suggests that extracutaneous involvement in PM patients is frequent, thus warranting careful examination of PM patients.
Insights
Pigmentary mosaicism (PM) often presents with varied skin pigmentation patterns and locations. This condition is frequently associated with extracutaneous diseases, particularly neuropsychiatric conditions, necessitating thorough patient evaluation.
Area of Science:
- Dermatology
- Clinical Genetics
- Pediatrics
Background:
- Pigmentary mosaicism (PM), or Blaschkoid dyspigmentation, is a rare disorder of skin pigmentation.
- While extracutaneous manifestations are reported, detailed clinical characteristics of PM patients are understudied.
Purpose of the Study:
- To delineate the clinical features of patients diagnosed with pigmentary mosaicism.
- To investigate the prevalence and types of extracutaneous manifestations associated with PM.
Main Methods:
- A descriptive, cross-sectional study involving 47 children.
- Clinical data including PM pattern, location, pigmentation type, and associated conditions were systematically documented by dermatologists and pediatricians.
Main Results:
- Narrow-band PM was the most frequent pattern, predominantly affecting the trunk.
- Hypopigmentation was the most common presentation (51.1%), followed by hyperpigmentation.
- Over 40% of patients had accompanying diseases, most commonly neuropsychiatric, endocrinological, or hematological conditions, and growth/developmental delays.
Conclusions:
- Extracutaneous involvement is common in patients with PM, suggesting potential links beyond coincidence.
- The findings underscore the importance of comprehensive medical evaluations for individuals with PM to identify associated health issues.
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