Living with Aplasia cutis congenita-intestinal lymphangiectasia syndrome
An extremely rare syndrome with missing scalp skin and swelling caused by a problem with the gut's lymph vessels.
Understanding Aplasia cutis congenita-intestinal lymphangiectasia syndrome
It was described in only two brothers. Features include a patch of missing skin on the top of the head and widespread swelling (edema), low blood protein, and a low number of certain white blood cells. These are due to widened lymph vessels in the intestines. GARD notes there have been no further descriptions in the medical literature since 1985.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Gap in the skull bone
- Swelling from extra lymph fluid (lymphedema)
- Trouble absorbing nutrients (malabsorption)
- Low white blood cell count (lymphocytes)
- Curved pinkie fingers
- Unusual amount of 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
Specialists who may be involved include digestive system specialists, genetic specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); 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 says changes in genes (also called variants) cause this syndrome. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: acc with intestinal lymphangiectasia; aplasia cutis congenita with intestinal lymphangiectasia; autosomal recessive aplasia cutis; bronspiegel-zelnick syndrome
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-intestinal lymphangiectasia syndrome.
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