Living with Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
A very rare genetic skin condition with loose, saggy skin on the trunk and limbs, and a bleeding tendency.
Understanding Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
It starts in childhood or the teen years. Blood clotting is affected, so people may bleed easily. Eye changes called angioid streaks can occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Loose, saggy skin (cutis laxa)
- Easy or abnormal bleeding
- Clotting problems
- Small bumps on the skin (papules)
- Eye changes (angioid streaks)
- Narrowing and hardening of arteries
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 GGCX 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 GGCX gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency; pseudoxanthoma elasticum-like syndrome; pxe-like disorder with multiple coagulation factor deficiency; pxe-like syndrome
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 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency.
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