Overview
Neonatal ichthyosis-sclerosing cholangitis syndrome, also known as NISCH syndrome, is a very rare inherited condition that affects the skin and the liver's bile ducts from birth. The name describes the two main features: 'ichthyosis' refers to dry, scaly skin, and 'sclerosing cholangitis' refers to scarring and narrowing of the tubes (bile ducts) that carry bile from the liver. NISCH syndrome is caused by changes in the CLDN1 gene, which provides instructions for making a protein called claudin-1. This protein helps hold cells tightly together in the skin and in the lining of bile ducts. Without it working properly, both the skin barrier and the bile duct structure break down. Babies with NISCH syndrome are often born with a tight, shiny skin covering called a collodion membrane, which peels away to reveal red, scaly skin underneath. Over time, the liver disease can become serious, leading to jaundice (yellowing of the skin and eyes), poor growth, and liver damage. The combination of skin and liver problems makes this condition challenging to manage. There is currently no cure for NISCH syndrome. Treatment focuses on managing symptoms — moisturizing the skin regularly, protecting it from infection, and monitoring and supporting liver function. In severe cases of liver disease, a liver transplant may be considered. Because this condition is so rare, care is best provided by a team of specialists working together.
Key symptoms:
Thick, scaly, dry skin present from birth (ichthyosis)Collodion membrane at birth — a tight, shiny skin layer that peels off in the first weeks of lifeRedness of the skin (erythroderma)Yellowing of the skin and eyes (jaundice) due to liver problemsItching caused by bile buildup in the bodyPoor weight gain and slow growthEnlarged liver or spleenScarring and narrowing of the bile ducts (sclerosing cholangitis)Elevated liver enzymes on blood testsAlopecia (hair loss or sparse hair)Leukonychia (white discoloration of the nails)
Clinical phenotype terms (15)— 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 Neonatal ichthyosis-sclerosing cholangitis syndrome.
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Specialists
View all specialists →No specialists are currently listed for Neonatal ichthyosis-sclerosing cholangitis 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 Neonatal ichthyosis-sclerosing cholangitis syndrome.
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Caregiver Resources
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What is the current state of my child's liver disease, and how will we monitor it over time?,What skin care routine and products do you recommend, and how often should we apply them?,Does my child need vitamin supplements, and which ones?,At what point would a liver transplant be considered, and what does that process involve?,Should other family members be tested as carriers of the CLDN1 gene change?,Are there any clinical trials or research studies we should know about?,What signs should prompt us to go to the emergency room?
Common questions about Neonatal ichthyosis-sclerosing cholangitis syndrome
What is Neonatal ichthyosis-sclerosing cholangitis syndrome?
Neonatal ichthyosis-sclerosing cholangitis syndrome, also known as NISCH syndrome, is a very rare inherited condition that affects the skin and the liver's bile ducts from birth. The name describes the two main features: 'ichthyosis' refers to dry, scaly skin, and 'sclerosing cholangitis' refers to scarring and narrowing of the tubes (bile ducts) that carry bile from the liver. NISCH syndrome is caused by changes in the CLDN1 gene, which provides instructions for making a protein called claudin-1. This protein helps hold cells tightly together in the skin and in the lining of bile ducts. Witho
How is Neonatal ichthyosis-sclerosing cholangitis syndrome inherited?
Neonatal ichthyosis-sclerosing cholangitis syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Neonatal ichthyosis-sclerosing cholangitis syndrome typically begin?
Typical onset of Neonatal ichthyosis-sclerosing cholangitis syndrome is neonatal. Age of onset can vary across affected individuals.