Overview
Familial reactive perforating collagenosis (FRPC) is a rare inherited skin condition where the body abnormally pushes collagen — a protein that gives skin its structure — up through the outer layers of the skin. This process is called 'transepidermal elimination,' which simply means the skin is trying to get rid of collagen fibers by pushing them out through the surface. The condition is also sometimes called familial perforating collagenosis or reactive perforating collagenosis (familial type). The main sign of this disease is the appearance of small, firm, dome-shaped bumps on the skin, usually with a central plug or crater filled with dark, keratinous (skin-protein) material. These bumps most often appear on the arms, legs, and trunk, and they can be very itchy. The bumps tend to come and go, and they may be triggered by minor skin injuries like scratches or insect bites — a reaction known as the Koebner phenomenon. FRPC usually begins in childhood or infancy and follows a lifelong course with flares and remissions. There is no cure, but treatments focus on relieving itching and reducing the number of bumps. Options include topical creams, retinoids, antihistamines, and light therapy. The condition is generally not life-threatening, but it can significantly affect quality of life due to persistent itching and the visible appearance of skin lesions.
Key symptoms:
Small, firm, dome-shaped bumps on the skinCentral dark plug or crater in the middle of each bumpIntense itching of the affected skin areasBumps most commonly on arms, legs, hands, and trunkNew bumps triggered by scratching, insect bites, or minor skin injuriesBumps that come and go over time (flares and remissions)Scarring or darkening of skin after bumps healSkin lesions that may worsen in cold weatherKoebner phenomenon — new lesions forming at sites of skin trauma
Clinical phenotype terms (20)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Familial reactive perforating collagenosis.
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Specialists
View all specialists →No specialists are currently listed for Familial reactive perforating collagenosis.
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 reactive perforating collagenosis.
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.What type of skin biopsy or genetic testing do you recommend to confirm the diagnosis?,Which treatments are most likely to help reduce my itching and the number of bumps?,Are there specific triggers I should avoid to prevent flares?,Should other family members be evaluated or tested for this condition?,Is there any ongoing research or clinical trial I could participate in?,What should I do if a skin lesion becomes infected or does not heal?,Are there any support groups or patient communities for people with this condition?
Common questions about Familial reactive perforating collagenosis
What is Familial reactive perforating collagenosis?
Familial reactive perforating collagenosis (FRPC) is a rare inherited skin condition where the body abnormally pushes collagen — a protein that gives skin its structure — up through the outer layers of the skin. This process is called 'transepidermal elimination,' which simply means the skin is trying to get rid of collagen fibers by pushing them out through the surface. The condition is also sometimes called familial perforating collagenosis or reactive perforating collagenosis (familial type). The main sign of this disease is the appearance of small, firm, dome-shaped bumps on the skin, usu
How is Familial reactive perforating collagenosis inherited?
Familial reactive perforating collagenosis follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Familial reactive perforating collagenosis typically begin?
Typical onset of Familial reactive perforating collagenosis is childhood. Age of onset can vary across affected individuals.