Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

congenital lethal erythroderma - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

congenital lethal erythroderma

MONDO:0009198

Also known as:congenital exfoliative erythroderma resistant to treatmenterythroderma lethal congenitalerythroderma, lethal congenital

Overview

A rare skin disorder characterized by erythrodermic, peeling skin from birth with no obvious nail or hair-shaft abnormalities and other associated anomalies including diarrhea, failure to thrive and severe hypoalbuminaemia resistant to correction by enteral or intravenous supplementation. An autosomal recessive mode of inheritance is highly probable. The prognosis is poor and infants die in the first months of life. There have been no further descriptions in the literature since 1992.

GeneticsAutosomal recessive

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Congenital exfoliative erythroderma, Failure to thrive, and Hypoalbuminemia.

Organ System	Phenotype Count	Example Features
Pregnancy and birth	1	Congenital exfoliative erythroderma
Growth and development

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 2:15 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:227090

Orphanet

European rare disease database

Orphanet:1954

GARD

Genetic and Rare Diseases Info Center

GARD:2192

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

congenital lethal erythroderma

Overview

Clinical Presentation

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Multicentric Reticulohistiocytosis Progressing to Erythroderma After Long-Term Disease Progression.

Graft-Versus-Host Disease-like Erythroderma in the Setting of Thymoma: A Rare Paraneoplastic Disorder.

congenital lethal erythroderma

Overview

Clinical Presentation

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Latest News & Developments

Multicentric Reticulohistiocytosis Progressing to Erythroderma After Long-Term Disease Progression.

Graft-Versus-Host Disease-like Erythroderma in the Setting of Thymoma: A Rare Paraneoplastic Disorder.