Article
Segmental macular hyperpigmentation: new genes, new clinical implications.
The British journal of dermatology - 17 Oct 2025
Kinsler Veronica A, Knöpfel Nicole, Polubothu Satyamaanasa
Abstract excerpt
BACKGROUND: Segmental macular hyperpigmentation (SMH) is macular hyperpigmentation in a defined developmental pattern, presenting at birth or in the early years. The only known cause of this phenotype has been mosaicism of gene GNAS, as part of McCune-Albright syndrome. It is unknown how often GNAS mosaicism is the cause of SMH presenting to dermatology or whether there are other genetic causes for the phenotype...
Topics
- Humans
- Mosaicism
- Male
- Female
- Hyperpigmentation
- Child
- Child, Preschool
- Prospective Studies
- Chromogranins
- GTP-Binding Protein alpha Subunits, Gs
- Infant
- Phenotype