Living with Autosomal recessive congenital ichthyosis 4B
A severe inherited skin condition in which babies are born with very thick, hard skin that forms plates.
Understanding Autosomal recessive congenital ichthyosis 4B
Babies are born early with very hard, thick skin over most of the body. The skin forms large, diamond-shaped plates separated by deep cracks. It can affect the shape of the eyelids, nose, mouth, and ears and limit arm and leg movement. After the newborn period the plates are shed and the skin develops widespread scales and redness. Newborns need intensive medical support, and breathing and feeding can be difficult.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Very thick, scaly, red skin (ichthyosis)
- Eyelids that turn outward (ectropion)
- Lips that turn outward (eclabion)
- Flat nose
- Limited joint movement
- Repeated breathing infections
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 eye disease specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in ABCA12 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
- Eye disease specialists (ophthalmologists); 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
It is caused by changes in the ABCA12 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: arci4b; autosomal recessive congenital ichthyosis type 4b; harlequin fetus; harlequin ichthyosis; harlequin type ichthyosis congenita; harlequin type ichthyosis fetalis
Patient organizations
- Foundation for Ichthyosis and Related Skin TypesAutosomal recessive congenital ichthyosis 4B · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal recessive congenital ichthyosis 4B.
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