Overview
Aplasia cutis congenita-intestinal lymphangiectasia syndrome is an extremely rare condition that combines two main problems: areas of missing skin present at birth (called aplasia cutis congenita) and abnormal widening of the lymph vessels in the intestines (called intestinal lymphangiectasia). Aplasia cutis congenita means that patches of skin, most often on the scalp, fail to form properly before birth, leaving raw or ulcerated areas that may look like wounds. Intestinal lymphangiectasia causes the tiny lymph vessels lining the gut to become swollen and leaky, which leads to loss of proteins, fats, and immune cells into the intestines. This protein loss can cause swelling in the legs and body (edema), diarrhea, poor growth, and a weakened immune system. Because this syndrome is so rare, the treatment approach is mainly supportive. Skin defects may heal on their own or require wound care and sometimes surgical repair. The intestinal component is typically managed with a special diet that is low in long-chain fats and supplemented with medium-chain triglycerides (MCT), which are absorbed differently and do not overload the lymph vessels. Protein supplementation and careful nutritional monitoring are also important. In some cases, albumin infusions may be needed to manage severe protein loss. Early recognition and coordinated care between dermatologists, gastroenterologists, and geneticists are essential for the best outcomes.
Also known as:
Key symptoms:
Missing patches of skin at birth, usually on the scalpSwelling of the legs, feet, or body due to fluid buildup (edema)Chronic diarrheaPoor weight gain and growth failure in infancyLow protein levels in the bloodFrequent infections due to weakened immune systemFatty or greasy stoolsAbdominal bloating or discomfortThin or fragile skin in affected areasNutritional deficienciesDelayed wound healing on the scalp or other affected skin areas
Clinical phenotype terms (13)— hover any for plain English
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 Aplasia cutis congenita-intestinal lymphangiectasia syndrome.
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Specialists
View all specialists →No specialists are currently listed for Aplasia cutis congenita-intestinal lymphangiectasia syndrome.
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 Aplasia cutis congenita-intestinal lymphangiectasia syndrome.
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my child's intestinal lymphangiectasia, and what dietary changes are needed?,Will the skin defects heal on their own, or will surgery be needed?,How often should blood tests be done to monitor protein levels and immune function?,Are there any signs I should watch for that would require emergency care?,Should we pursue genetic testing, and what would the results mean for future pregnancies?,What nutritional supplements does my child need, and how do I get MCT oil?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about Aplasia cutis congenita-intestinal lymphangiectasia syndrome
What is Aplasia cutis congenita-intestinal lymphangiectasia syndrome?
Aplasia cutis congenita-intestinal lymphangiectasia syndrome is an extremely rare condition that combines two main problems: areas of missing skin present at birth (called aplasia cutis congenita) and abnormal widening of the lymph vessels in the intestines (called intestinal lymphangiectasia). Aplasia cutis congenita means that patches of skin, most often on the scalp, fail to form properly before birth, leaving raw or ulcerated areas that may look like wounds. Intestinal lymphangiectasia causes the tiny lymph vessels lining the gut to become swollen and leaky, which leads to loss of proteins
How is Aplasia cutis congenita-intestinal lymphangiectasia syndrome inherited?
Aplasia cutis congenita-intestinal lymphangiectasia syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Aplasia cutis congenita-intestinal lymphangiectasia syndrome typically begin?
Typical onset of Aplasia cutis congenita-intestinal lymphangiectasia syndrome is neonatal. Age of onset can vary across affected individuals.