Living with Familial reactive perforating collagenosis
A rare skin condition that runs in families, with small bumps that come and go on their own.
Understanding Familial reactive perforating collagenosis
It causes small bumps or lumps on the skin that can come and go on their own. The bumps are made of collagen fibers pushed out through the skin. It usually starts in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Red, raised bumps (papules)
- Thick, rough bumps
- Skin inflammation
- Spotty darker skin
- Itching
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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 genes cause it. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
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 reactive perforating collagenosis.
Explore research for Familial reactive perforating collagenosis
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