Overview
Familial progressive hyper- and hypopigmentation (FPHH) is a rare inherited skin condition that causes patches of both darker (hyperpigmented) and lighter (hypopigmented) skin to develop over time. The condition typically begins in infancy or early childhood and gradually progresses, meaning the patches of uneven skin color tend to spread and become more noticeable as a person grows older. The pigmentation changes can appear anywhere on the body, including the trunk, arms, legs, and face. FPHH is caused by changes (mutations) in genes that help control how melanin — the pigment that gives skin its color — is distributed in the skin. The condition is generally not associated with problems in other organs, meaning it primarily affects the skin's appearance rather than overall health. However, the visible skin changes can have a significant emotional and psychological impact, especially during childhood and adolescence. There is currently no cure for FPHH. Treatment is mainly supportive and cosmetic, focusing on sun protection and, in some cases, cosmetic camouflage products to even out skin tone. Dermatologists and geneticists are the main specialists involved in managing this condition. Because it is so rare, awareness among healthcare providers may be limited, and diagnosis can sometimes be delayed.
Also known as:
Key symptoms:
Patches of darker skin (hyperpigmentation)Patches of lighter skin (hypopigmentation)Uneven or mottled skin colorGradual worsening of skin color changes over timeSkin changes that can appear anywhere on the bodyFreckle-like spots on the skinCafé-au-lait spots (light brown flat birthmarks)Skin changes present from early childhoodNo associated pain or itching in most cases
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
1 availableSecreflo
For use in secretin stimulation testing for: Stimulation of pancreatic secretions to facilitate the identification of the ampulla of Vater and accessory papilla during endoscopic retrograde cholangio-…
For use in secretin stimulation testing for: Stimulation of pancreatic secretions to facilitate the identification of the ampulla of Vater and accessory papilla during endoscopic retrograde cholangio-pancreatography (ERCP)
Clinical Trials
View all trials with filters →No actively recruiting trials found for Familial progressive hyper- and hypopigmentation at this time.
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Specialists
View all specialists →No specialists are currently listed for Familial progressive hyper- and hypopigmentation.
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 hyper- and hypopigmentation.
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.Is genetic testing recommended for my child, and what gene should be tested?,How is this condition likely to progress over time?,Are there any treatments that can slow down or reduce the pigmentation changes?,Should other family members be evaluated or tested?,What sun protection measures do you recommend?,Can you refer us to a counselor experienced with visible skin differences?,Are there any clinical trials or research studies we could participate in?
Common questions about Familial progressive hyper- and hypopigmentation
What is Familial progressive hyper- and hypopigmentation?
Familial progressive hyper- and hypopigmentation (FPHH) is a rare inherited skin condition that causes patches of both darker (hyperpigmented) and lighter (hypopigmented) skin to develop over time. The condition typically begins in infancy or early childhood and gradually progresses, meaning the patches of uneven skin color tend to spread and become more noticeable as a person grows older. The pigmentation changes can appear anywhere on the body, including the trunk, arms, legs, and face. FPHH is caused by changes (mutations) in genes that help control how melanin — the pigment that gives ski
How is Familial progressive hyper- and hypopigmentation inherited?
Familial progressive hyper- and hypopigmentation follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Familial progressive hyper- and hypopigmentation typically begin?
Typical onset of Familial progressive hyper- and hypopigmentation is infantile. Age of onset can vary across affected individuals.