Overview
Recessive aplasia cutis congenita of limbs is an extremely rare skin condition that is present at birth. In this condition, babies are born with areas of missing skin (called aplasia cutis) specifically on the arms and legs (limbs). The term 'aplasia cutis congenita' means that the skin failed to fully develop before birth. In this particular form, the condition follows an autosomal recessive inheritance pattern, meaning both parents must carry a copy of the changed gene for a child to be affected. The areas of missing skin may appear as raw, open wounds or thin, scar-like patches on the limbs. These areas are fragile and can be at risk for infection or bleeding. It is important to note that this Orphanet entry is now classified as 'OBSOLETE,' which means the condition may have been reclassified, merged with another diagnosis, or better understood under a different name within the broader group of aplasia cutis congenita conditions. Treatment is generally supportive and focuses on wound care, preventing infection, and protecting the affected skin areas. Over time, many of these skin defects heal on their own, though scarring may remain. In more severe cases, surgical intervention such as skin grafting may be needed. Families affected by this condition should work closely with dermatologists and geneticists to understand the specific diagnosis and management plan.
Key symptoms:
Missing patches of skin on the arms or legs at birthRaw or open wound-like areas on the limbsThin or scar-like skin patches present from birthFragile skin in affected areasRisk of skin infections in areas of missing skinBleeding from affected skin areasScarring as wounds healPossible slow wound healing
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for OBSOLETE: Recessive aplasia cutis congenita of limbs.
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Specialists
View all specialists →No specialists are currently listed for OBSOLETE: Recessive aplasia cutis congenita of limbs.
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 OBSOLETE: Recessive aplasia cutis congenita of limbs.
Community
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Caregiver Resources
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Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe are the skin defects, and are they expected to heal on their own?,What wound care routine should we follow at home?,Are there any signs of infection we should watch for?,Will my child need surgery or skin grafting?,Should we pursue genetic testing to identify the specific cause?,What is the chance of having another child with this condition?,Will the scarring affect my child's movement or development?
Common questions about OBSOLETE: Recessive aplasia cutis congenita of limbs
What is OBSOLETE: Recessive aplasia cutis congenita of limbs?
Recessive aplasia cutis congenita of limbs is an extremely rare skin condition that is present at birth. In this condition, babies are born with areas of missing skin (called aplasia cutis) specifically on the arms and legs (limbs). The term 'aplasia cutis congenita' means that the skin failed to fully develop before birth. In this particular form, the condition follows an autosomal recessive inheritance pattern, meaning both parents must carry a copy of the changed gene for a child to be affected. The areas of missing skin may appear as raw, open wounds or thin, scar-like patches on the limbs
How is OBSOLETE: Recessive aplasia cutis congenita of limbs inherited?
OBSOLETE: Recessive aplasia cutis congenita of limbs follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does OBSOLETE: Recessive aplasia cutis congenita of limbs typically begin?
Typical onset of OBSOLETE: Recessive aplasia cutis congenita of limbs is neonatal. Age of onset can vary across affected individuals.