Living with Neonatal ichthyosis-sclerosing cholangitis syndrome
A very rare inherited condition with dry, scaly skin, sparse hair, and liver bile duct problems, seen from the newborn period.
Understanding Neonatal ichthyosis-sclerosing cholangitis syndrome
It involves thin scalp hair, hair loss with scarring, dry scaly skin (ichthyosis), and sclerosing cholangitis, which is inflammation and narrowing of the bile ducts in the liver. Signs start in the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Dry, scaly skin (ichthyosis)
- Sparse scalp hair and scarring hair loss
- Sparse eyebrows and eyelashes
- Slowed bile flow from the liver (cholestasis)
- Yellowing of the skin (jaundice)
- Enlarged liver and spleen
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.
- 3Consider genetic testing
Changes in CLDN1 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
Foundation for Ichthyosis and Related Skin Types may keep lists of experts for this condition.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: Foundation for Ichthyosis and Related Skin Types
- 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 Foundation for Ichthyosis and Related Skin Types 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 CLDN1 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: ichthyosis-hypotrichosis-sclerosing cholangitis syndrome; ichthyosis-sclerosing cholangitis syndrome; ichthyosis, hypotrichosis, sclerosing cholangitis syndrome; ihsc; ilvasc; neonatal sclerosing cholangitis, ichthyosis, hypotrichosis syndrome
Patient organizations
- Foundation for Ichthyosis and Related Skin TypesNeonatal ichthyosis-sclerosing cholangitis syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Neonatal ichthyosis-sclerosing cholangitis syndrome.
Explore research for Neonatal ichthyosis-sclerosing cholangitis syndrome
Explore actively recruiting Neonatal ichthyosis-sclerosing cholangitis syndrome studies with HealthSpark.
Find actively recruiting studies for Neonatal ichthyosis-sclerosing cholangitis syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Neonatal ichthyosis-sclerosing cholangitis syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Neonatal ichthyosis-sclerosing cholangitis syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Neonatal ichthyosis-sclerosing cholangitis syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.