Overview
Familial progressive hyperpigmentation (FPH) is a rare inherited skin condition where patches of darker skin appear at birth or shortly after and slowly grow larger and more widespread over time. The word 'hyperpigmentation' simply means extra coloring or darkening of the skin. Unlike common birthmarks that stay the same size, the dark patches in FPH keep spreading as a person gets older, which is why the word 'progressive' is used. The condition is also sometimes called familial progressive hyperpigmentation with or without hypopigmentation, depending on whether lighter patches also appear alongside the darker ones. FPH is caused by changes (mutations) in the KITLG gene, which plays a role in controlling how pigment-producing cells (called melanocytes) work. When this gene does not work properly, melanocytes become overactive in some areas of the skin, leading to uneven darkening. The dark patches can appear on the face, trunk, arms, and legs, and may also affect the inside of the mouth. There is no known internal organ involvement, and the condition does not shorten life expectancy. Right now, there is no cure for FPH. Treatment focuses on managing the appearance of the skin patches, which can have a significant emotional and social impact. Options include cosmetic camouflage, sun protection to prevent patches from darkening further, and psychological support. Dermatologists and clinical geneticists are the main specialists involved in care.
Key symptoms:
Dark brown or black skin patches present at birth or appearing in early infancyPatches that slowly grow larger and spread to more areas of the body over timeUneven skin coloring affecting the face, neck, trunk, arms, and legsDark patches inside the mouth (oral mucosa pigmentation)Lighter skin patches (hypopigmentation) in some affected individualsNo pain or itching associated with the skin patchesFamily history of similar skin darkening across multiple generations
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Familial progressive hyperpigmentation.
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Specialists
View all specialists →No specialists are currently listed for Familial progressive hyperpigmentation.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Familial progressive hyperpigmentation.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which areas of my body are most likely to be affected as the pigmentation spreads?,Should I have genetic testing, and should my family members be tested too?,What sun protection measures are most important for slowing the darkening of patches?,Are there any laser or skin-lightening treatments that might help, and what are the risks?,How can I find psychological support for dealing with the visible effects of this condition?,What should I watch for that would mean I need to come back sooner than my next scheduled appointment?,Are there any clinical trials or research studies I could participate in?
Common questions about Familial progressive hyperpigmentation
What is Familial progressive hyperpigmentation?
Familial progressive hyperpigmentation (FPH) is a rare inherited skin condition where patches of darker skin appear at birth or shortly after and slowly grow larger and more widespread over time. The word 'hyperpigmentation' simply means extra coloring or darkening of the skin. Unlike common birthmarks that stay the same size, the dark patches in FPH keep spreading as a person gets older, which is why the word 'progressive' is used. The condition is also sometimes called familial progressive hyperpigmentation with or without hypopigmentation, depending on whether lighter patches also appear al
How is Familial progressive hyperpigmentation inherited?
Familial progressive hyperpigmentation follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Familial progressive hyperpigmentation typically begin?
Typical onset of Familial progressive hyperpigmentation is neonatal. Age of onset can vary across affected individuals.