familial progressive hyperpigmentation
Findings
No curated finding names familial progressive hyperpigmentation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Familial progressive hyperpigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by irregular patches of hyperpigmented skin which present at birth or in early infancy and increase in size, number and confluence with age. Affected areas of the body include the face, neck, trunk and limbs, as well as the palms, soles, oral mucosa and conjuctiva. No hypogmentation macules are observed and no systemic diseases are associated.
Definition from the Mondo Disease Ontology (MONDO:0013648), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
1 feature
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Hyperpigmentation of the skinHPOHP:0000953
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- KITLGHGNC:6343
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
- Narrower terms (1)
Other names
3 names
Resolves to: familial progressive hyperpigmentation
- Also called
- melanosis diffusa congenitamelanosis universalis hereditariauniversal melanosis