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An unusual human mosaic for skin pigmentation
C Stoll1, Y Alembik, E Grosshans
1Service de Génétique Médicale, Centre Hospitalo-Universitaire, Strasbourg, France. Claude.Stoll@chru-strasbourg.fr
Genetic Counseling (Geneva, Switzerland)
|November 6, 2002
Summary
This study reports a rare case of pigmentary mosaicism in a boy with a checkerboard skin pattern. Genetic analysis revealed a novel 12q;14q translocation, highlighting the importance of tissue-specific chromosomal analysis.
Area of Science:
- Human Genetics
- Dermatology
- Cytogenetics
Background:
- Patterned pigmentary disturbances in genetic disorders often indicate chromosomal mosaicism.
- Happle's classification describes distinct types of pigmentary anomalies beyond Blaschko's lines.
Observation:
- A boy presented with unusual checkerboard-patterned hyperpigmentation and midline separation.
- Clinical features included delayed development, generalized hirsutism, and facial dysmorphia.
Findings:
- Peripheral blood karyotype was normal.
- Fibroblast analysis revealed mosaicism with a 12q;14q translocation in 70% of cells.
Implications:
- This case introduces a novel chromosomal anomaly associated with pigmentary mosaicism.
- Emphasizes the critical need for comprehensive chromosomal analysis across different tissues in diagnosing pigmentary anomalies.