Living with Familial progressive hyper- and hypopigmentation
A rare genetic skin condition with dark and light patches that spread over time, starting in infancy.
Understanding Familial progressive hyper- and hypopigmentation
It includes patches of darker skin mixed with café-au-lait spots, lighter spots, and freckle-like spots. They appear on the face, neck, trunk and limbs, and often the palms, soles and inside the mouth. The pattern can range from separate patches to a mottled look. It begins in infancy.
Signs & symptoms
GARD doesn't list a separate symptom list. Its summary describes:
- Dark skin patches that spread over time
- Café-au-lait spots
- Light (hypopigmented) spots
- Freckle-like spots (lentigines)
- Changes on palms, soles and inside the mouth
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in KITLG are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Children's Skin Disease Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the KITLG gene cause it. It is autosomal dominant, which means one changed copy of the gene is enough.
Also known as: familial progressive hyper and hypopigmentation; familial progressive hyperpigmentation and hypopigmentation of skin; fphh
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Familial progressive hyper- and hypopigmentation.
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