Living with Neonatal inflammatory skin and bowel disease
A rare inherited condition with long-lasting inflammation of the skin and bowel, repeated infections, and hair differences, from the newborn period.
Understanding Neonatal inflammatory skin and bowel disease
It is an autoinflammatory syndrome with an immune system problem. Inflammation starts early and lasts a lifetime, along with repeated infections. People have red, scaly rashes with pimples around the mouth and bottom, slow weight gain from long-lasting diarrhea and poor absorption of food, and hair that is absent, short, or broken.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Red, scaly rash with pimples
- Bloody diarrhea
- Rash around the bottom (perianal dermatitis)
- Repeated skin and stomach infections
- Slow-growing scalp hair
- Inflamed eyelids (blepharitis)
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 autoimmune and inflammatory disease specialists, allergy and immune system specialists, brain and nervous system specialists and digestive system specialists.
- 3Consider genetic testing
Changes in ADAM17 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- autoimmune and inflammatory disease specialists (rheumatologists); Allergy and immune system specialists (allergists / immunologists); Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists)
- Expert care
- Expert lists: Immune Deficiency Foundation
- 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 Immune Deficiency Foundation and other patient organizations
- 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 ADAM17 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: inflammatory skin and bowel disease, neonatal
Patient organizations
- Immune Deficiency FoundationPrimary immunodeficiency · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Neonatal inflammatory skin and bowel disease.
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