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

Familial progressive hyper- and hypopigmentation: a report on a Chinese family and evidence for genetic heterogeneity.

Anais brasileiros de dermatologia - 1 Jan 2000

Xiao-Kai Fang, Yue-Xi He, Yan-Jia Li, Li-Rong Chen, He-Peng Wang, Qing Sun

Abstract excerpt

BACKGROUND: Familial progressive hyper- and hypopigmentation (FPHH) is a rare genodermatosis that is characterized by diffuse hyper- and hypopigmented spots on the skin and mucous membranes. It is caused by a pathogenic mutation of the KITLG gene. OBJECTIVES: To investigate the clinical features and mutation of the KITLG gene in a Chinese family with FPHH. METHODS: Histopathological and immunohistochemical...

Read the complete abstract on PubMed

Topics

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

Share to Asian People
Share to Child, Preschool

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

Share to Genetic Heterogeneity

Share to Hyperpigmentation

Share to Hypopigmentation

Share to Immunohistochemistry

Share to Mutation

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 29186243
DOI: 10.1590/abd1806-4841.20175567
PMCID: PMC5514571

Genes

KITLG

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 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

Familial progressive hyper- and hypopigmentation: a report on a Chinese family and evidence for genetic heterogeneity.PMID 29186243Read ↗

[Clinical phenotype and genetic analysis of a Chinese pedigree affected with familial progressive hyperpigmentation and hypopigmentation].Semantic proximity Read ↗

Identification of a novel mutation in the KITLG gene in a Chinese family with familial progressive hyper- and hypopigmentationSemantic proximity Read ↗

Identification of a novel mutation in the KITLG gene in a Chinese family with familial progressive hyper- and hypopigmentation.Semantic proximity Read ↗

KITLG mutations cause familial progressive hyper- and hypopigmentation.Semantic proximity Read ↗

Familial Progressive Hyperpigmentation, Cutaneous Mastocytosis, and Gastrointestinal Stromal Tumor as Clinical Manifestations of Mutations in the c-KIT Receptor Gene.Semantic proximity Read ↗

Familial progressive hypo- and hyperpigmentation: a variant case.Semantic proximity Read ↗

De novo mutation in KITLG gene causes a variant of Familial Progressive Hyper- and Hypo-pigmentation (FPHH).Semantic proximity Read ↗

Familial progressive hyper- and hypopigmentation and malignancy in two families with new mutations inKITLGSemantic proximity Read ↗

Familial progressive hyper- and hypopigmentation caused by a novel mutation in site II of the KITLG gene.Semantic proximity Read ↗

The biology of hyperpigmentation syndromesSemantic proximity Read ↗

Gain-of-function mutation of KIT ligand on melanin synthesis causes familial progressive hyperpigmentation.Semantic proximity Read ↗

A variant case of familial progressive hyperpigmentation.Semantic proximity Read ↗

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