familial progressive hyper- and hypopigmentation
Findings
No curated finding names familial progressive hyper- and hypopigmentation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Familial progressive hyper- and hypopigmentation is a rare, genetic, skin pigmentation anomaly disorder characterized by progressive, diffuse, partly blotchy, hyperpigmented lesions that are intermixed with multiple café-au-lait spots, hypopigmented maculae and lentigines and are located on the face, neck, trunk and limbs, as well as, frequently, the palms, soles and oral mucosa. Dispigmentation pattern can range from well isolated café-au-lait/hypopigmented patches on a background of normal-appearing skin to confetti-like or mottled appearance.
Definition from the Mondo Disease Ontology (MONDO:0017239), read 2026-09-29. CC BY 4.0.
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
Other names
1 name
Resolves to: familial progressive hyper- and hypopigmentation
- Also called
- FPHH