Living with Congenital lethal erythroderma
A rare skin condition in newborns with red, peeling skin from birth, along with diarrhea and poor weight gain.
Understanding Congenital lethal erythroderma
Nail and hair shafts appear typical. Other features include diarrhea, slow weight gain and very low blood albumin that does not improve with supplements. GARD says an autosomal recessive pattern is highly probable.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Red, peeling skin from birth (erythroderma)
- Dry skin and ichthyosis
- Diarrhea and poor absorption
- Slow weight gain (failure to thrive)
- Hives
- Breathing problems
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 Children's Skin Disease Foundation
- 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 says changes in genes cause this condition and doesn't list a specific gene. An autosomal recessive pattern is highly probable.
Also known as: congenital exfoliative erythroderma resistant to treatment
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital lethal erythroderma.
Explore research for Congenital lethal erythroderma
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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