Overview
Mixed cystic lymphatic malformation is a type of lymphatic malformation — an abnormal growth of lymphatic vessels that forms fluid-filled cysts (sacs) in the body. The lymphatic system is part of your immune system and helps drain fluid from tissues. In this condition, the malformation contains a mix of both large cysts (called macrocystic) and small cysts (called microcystic), which is why it is called "mixed." These growths are present at birth or develop in early childhood, though they may not always be noticed right away. Mixed cystic lymphatic malformations most commonly appear in the head, neck, armpit, or chest areas, but they can occur almost anywhere in the body. They typically present as soft, painless swellings that may grow slowly over time. The swelling can sometimes increase suddenly if there is bleeding into the cyst or if the child gets an infection. Depending on their size and location, these malformations can press on nearby structures, causing problems with breathing, swallowing, or movement. Treatment depends on the size, location, and symptoms of the malformation. Options include sclerotherapy (injecting a substance into the cysts to shrink them), surgery to remove the malformation, or a combination of both. In some cases, medications such as sirolimus have been used to help reduce the size of lymphatic malformations. Because mixed cystic types contain both large and small cysts, they can be more challenging to treat than purely macrocystic forms. A team of specialists usually works together to manage this condition over time.
Also known as:
Key symptoms:
Soft, painless swelling under the skinSwelling in the head, neck, or armpit areaSudden increase in swelling sizeSkin discoloration or bluish tint over the massDifficulty breathing if the mass is near the airwayDifficulty swallowingRecurrent infections in the affected areaBleeding into the cyst causing sudden pain and enlargementVisible fluid-filled bumps on or under the skinFacial asymmetry if located on the face or jawOozing of clear fluid from tiny skin blistersLimited movement if the mass is near a joint
Sporadic
Usually appears on its own, not inherited from a parent
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Mixed cystic lymphatic malformation.
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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 Mixed cystic lymphatic malformation.
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Caregiver Resources
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Questions for your doctor
Bring these to your next appointment
- Q1.What type of lymphatic malformation does my child have, and where exactly is it located?,What treatment options are best for the mixed cystic type, and what are the risks and benefits of each?,How likely is the malformation to grow or come back after treatment?,Would my child benefit from medical therapy such as sirolimus, and what are the side effects?,Should we have genetic testing done on the malformation tissue to guide treatment?,What warning signs should I watch for that would require emergency care?,Is there a specialized vascular anomalies center where we could be seen for a second opinion?
Common questions about Mixed cystic lymphatic malformation
What is Mixed cystic lymphatic malformation?
Mixed cystic lymphatic malformation is a type of lymphatic malformation — an abnormal growth of lymphatic vessels that forms fluid-filled cysts (sacs) in the body. The lymphatic system is part of your immune system and helps drain fluid from tissues. In this condition, the malformation contains a mix of both large cysts (called macrocystic) and small cysts (called microcystic), which is why it is called "mixed." These growths are present at birth or develop in early childhood, though they may not always be noticed right away. Mixed cystic lymphatic malformations most commonly appear in the he
How is Mixed cystic lymphatic malformation inherited?
Mixed cystic lymphatic malformation follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Mixed cystic lymphatic malformation typically begin?
Typical onset of Mixed cystic lymphatic malformation is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Mixed cystic lymphatic malformation?
1 specialists and care centers treating Mixed cystic lymphatic malformation are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.