Living with Ichthyosis prematurity syndrome
A rare condition with early birth, thick peeling skin, and breathing trouble in newborns that often improves after infancy.
Understanding Ichthyosis prematurity syndrome
Babies are usually born around 30 to 32 weeks. After the newborn period, health often improves on its own, and the skin changes become milder, with rough bumps around hair follicles and allergy-related (atopic) problems.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Premature birth
- Thick skin that peels soon after birth
- Scaly skin (ichthyosis)
- Breathing trouble in newborns
- High eosinophil count (a type of white blood cell)
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 genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in SLC27A4 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
- 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
Changes in the SLC27A4 gene cause this condition. It is inherited in an autosomal recessive pattern, meaning a child inherits a changed copy of the gene from each parent.
Also known as: congenital ichthyosis type 4; ichthyosis congenita iv; ichthyosis-prematurity syndrome; idiopathic pneumonia syndrome; ips
Patient organizations
- Foundation for Ichthyosis and Related Skin TypesIchthyosis prematurity syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Ichthyosis prematurity syndrome.
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