Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to Child, Preschool
Share to Chromogranins

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA Copy Number Variations

Share to GTP-Binding Protein alpha Subunits, Gs

Share to Hyperpigmentation

Share to Infant

Share to Mosaicism

Source

Identifiers

PMID: 40644320
DOI: 10.1093/bjd/ljaf254

Genes

GNAS
BRAF
NRAS
PTPN11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 18 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Segmental macular hyperpigmentation: new genes, new clinical implications.PMID 40644320Read ↗

Gene discovery in extensive dermal melanocytosis reveals multiple mosaic causes.Semantic proximity Read ↗

Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations.Semantic proximity Read ↗

Mosaic disorders affecting pigmentation - part 2: how to make a genetic diagnosis.Semantic proximity Read ↗

Monogenic pigmentary skin disorders: genetics and pathophysiology.Semantic proximity Read ↗

The biology of hyperpigmentation syndromesSemantic proximity Read ↗

The genetic determination of skin pigmentation: KITLG and the KITLG/c-Kit pathway as key players in the onset of human familial pigmentary diseases.Semantic proximity Read ↗

Monogenic human skin disorders.Semantic proximity Read ↗

Mosaic abnormalities of the skin: review and guidelines from the European Reference Network for rare skin diseasesSemantic proximity Read ↗

Genodermatoses caused by genetic mosaicism.Semantic proximity Read ↗

Updated review of genetic reticulate pigmentary disorders.Semantic proximity Read ↗

The etiology and molecular genetics of human pigmentation disordersSemantic proximity Read ↗

Mosaic Activating Mutations in GNA11 and GNAQ Are Associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.