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scleromyxedema - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

scleromyxedema

MONDO:0015665

Also known as:Arndt-Gottron diseasegeneralised lichenoid papular eruptiongeneralised papular and sclerodermoid lichen myxedematosus

Overview

Scleromyxedema is a rare, severe skin disorder. Signs and symptoms include abnormal accumulation of mucin in the skin (mucinosis), causing papular and sclerodermoid bumps; increased production of fibroblasts (connective tissue cells) in the absence of a thyroid disorder; and monoclonal gammopathy (abnormal proteins in the blood). It often involves internal organs and may affect various body systems. The cause of scleromyxedema is not known. There is no standard treatment. Management may involve the use of intravenous immunoglobulin (IVIG), plasmapheresis, thalidomide and corticoids, or more aggressive interventions, such as autologous bone marrow transplantation.

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 very common findings: Generalized abnormality of skin, Abnormal protein in the blood (paraproteinemia), and Papule; and common findings: Abnormality of the face, Abnormality of the neck, Thickened skin, and Hand abnormalities (abnormality of the hand) and others. 40 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	6	Generalized abnormality of skin, Papule, Thickened skin

Prognosis

Phenotype severity distribution: 3 very common features, 14 common features.

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

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for scleromyxedema.

43 publications have been identified in PubMed for scleromyxedema. Research spans Case Report / Case Series (63%), Review / Meta-Analysis (28%), and Clinical Trial Publication (5%).

Research Type	Count	% of Total
Patient case studies	25	63%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 1:58 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:167635

GARD

Genetic and Rare Diseases Info Center

GARD:7615

Questions for Your Care Team

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Kisho

scleromyxedema

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

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Recent Publications

scleromyxedema

Overview

Clinical Presentation

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications