[Pigmentary mosaicism: a literature review]

Area of Science:

• Genetics
• Dermatology
• Developmental Biology

Background:

• Pigmentary mosaicism (PM) describes diverse patterns of skin pigmentation, including hypopigmented, hyperpigmented, or mixed forms (cutis tricolor).
• Approximately one-third of PM cases are linked to extracutaneous manifestations, frequently neurological.
• The etiology of PM is multifactorial, encompassing genetic and epigenetic factors.

Purpose of the Study:

• To review recent literature on pigmentary mosaicism.
• To identify the underlying genetic causes of PM.
• To enhance the clinical management strategies for patients with PM.

Main Methods:

• Literature review of recent scientific publications.
• Analysis of genetic mechanisms, including chromosomal mosaicism, intragenic variants, and epigenetic factors.
• Synthesis of information to guide diagnostic and therapeutic approaches.

Main Results:

• PM presents with varied pigmentation patterns (hypo-, hyper-, or mixed).
• Genetic causes include chromosomal mosaicism, mosaic intragenic variants, and X-chromosome related epigenetic mosaicism.
• Extracutaneous, particularly neurological, manifestations occur in about one-third of cases.

Conclusions:

• Recent literature highlights the complex genetic underpinnings of PM.
• Improved identification of causes can lead to better patient management.
• Further research is needed to fully elucidate PM's etiology and associated conditions.