Living with Aplasia cutis congenita
A condition in which babies are born with small patches of missing skin, most often on the scalp.
Understanding Aplasia cutis congenita
The patches are most common on the top of the head but can appear on the torso or limbs. Most babies have one patch. They are sometimes already healed at birth and usually leave a scar. On the scalp there may be no hair growth in that area. Sometimes the bone or tissue beneath is underdeveloped, which raises the risk of infection.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Missing patch of skin at birth
- Patch on the top of the scalp
- Open skin sore (ulcer)
- Gap in the skull bone (calvarial defect)
- Spinal dysraphism (spine did not close fully)
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 bone and joint specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in BMS1 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
- Bone and joint specialists (orthopedists or orthopedic surgeons); 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
GARD lists changes in the BMS1 gene. It can be inherited in a dominant way (one changed copy of the gene) or a recessive way (a changed copy from each parent). It can also appear as part of other conditions.
Also known as: absence of part of skin at birth; acc; acc - aplasia cutis congenita; aplasia cutis congenita (disease); aplasia cutis congenita recessive; aplasia of skin
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 Aplasia cutis congenita.
Explore research for Aplasia cutis congenita
Explore actively recruiting Aplasia cutis congenita studies with HealthSpark.
Find actively recruiting studies for Aplasia cutis congenita with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Aplasia cutis congenita studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Aplasia cutis congenita
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Aplasia cutis congenita experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.