Living with Recessive aplasia cutis congenita of limbs
An extremely rare condition in which skin is missing on the arms or legs at birth and heals with a scar.
Understanding Recessive aplasia cutis congenita of limbs
The areas usually heal on their own and leave a scar with sparse hair. It may be linked to junctional epidermolysis bullosa. GARD says it hasn't been described in the literature since 1980.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. The summary describes these features:
- Missing skin on the arms or legs at birth
- Healing with scars that have sparse hair
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 rare disease patient organizations for support
- 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
GARD says inheritance was hypothesized to be autosomal recessive, meaning a child inherits a changed copy of the gene from each parent. It doesn't name a gene.
Also known as: aplasia cutis congenita of limbs, autosomal recessive; autosomal recessive aplasia cutis congenita of limb; congenital absence of skin on the upper or lower limbs; recessive aplasia cutis congenita of the limbs
Patient organizations
Rare-disease groups that can help
- 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 Recessive aplasia cutis congenita of limbs.
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