Scleromyxedema

Summary

Scleromyxedema (MONDO:0015665) is a disease and 1 clinical trial. A subtype of lichen myxedematosus — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 41
• Clinical trials: 1

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		250	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

41 HPO clinical features (Orphanet curated; top 41 by frequency):

HPO ID	Term	Frequency
HP:0011354	Generalized abnormality of skin	Very frequent (80-99%)
HP:0031047	Paraproteinemia	Very frequent (80-99%)
HP:0200034	Papule	Very frequent (80-99%)
HP:0000271	Abnormality of the face	Frequent (30-79%)
HP:0000464	Abnormality of the neck	Frequent (30-79%)
HP:0001072	Thickened skin	Frequent (30-79%)
HP:0001155	Abnormality of the hand	Frequent (30-79%)
HP:0002015	Dysphagia	Frequent (30-79%)
HP:0002056	Abnormality of the glabella	Frequent (30-79%)
HP:0002829	Arthralgia	Frequent (30-79%)
HP:0002973	Abnormality of the forearm	Frequent (30-79%)
HP:0003198	Myopathy	Frequent (30-79%)
HP:0003236	Elevated circulating creatine kinase concentration	Frequent (30-79%)
HP:0003701	Proximal muscle weakness	Frequent (30-79%)
HP:0011838	Sclerodactyly	Frequent (30-79%)
HP:0025512	Skin-colored papule	Frequent (30-79%)
HP:0030053	Stiff skin	Frequent (30-79%)
HP:0000077	Abnormality of the kidney	Occasional (5-29%)
HP:0000160	Narrow mouth	Occasional (5-29%)
HP:0000989	Pruritus	Occasional (5-29%)
HP:0001250	Seizure	Occasional (5-29%)
HP:0001298	Encephalopathy	Occasional (5-29%)
HP:0001626	Abnormality of the cardiovascular system	Occasional (5-29%)
HP:0002020	Gastroesophageal reflux	Occasional (5-29%)
HP:0002088	Abnormal lung morphology	Occasional (5-29%)
HP:0002460	Distal muscle weakness	Occasional (5-29%)
HP:0002875	Exertional dyspnea	Occasional (5-29%)
HP:0003326	Myalgia	Occasional (5-29%)
HP:0008509	Aged leonine appearance	Occasional (5-29%)
HP:0011024	Abnormality of the gastrointestinal tract	Occasional (5-29%)
HP:0011805	Abnormal skeletal muscle morphology	Occasional (5-29%)
HP:0030178	Abnormality of central nervous system electrophysiology	Occasional (5-29%)
HP:0030880	Raynaud phenomenon	Occasional (5-29%)
HP:0100771	Hypoperistalsis	Occasional (5-29%)
HP:0002926	Abnormality of thyroid physiology	Excluded (0%)
HP:0001259	Coma	Very rare (<1-4%)
HP:0001297	Stroke	Very rare (<1-4%)
HP:0002326	Transient ischemic attack	Very rare (<1-4%)
HP:0006704	Abnormal coronary artery morphology	Very rare (<1-4%)
HP:0006775	Multiple myeloma	Very rare (<1-4%)
HP:0030966	Abnormal pulmonary artery morphology	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	scleromyxedema
Mondo ID	MONDO:0015665
MeSH	D053718
Orphanet	167635
NCIT	C85061
SNOMED CT	402468007
UMLS	C0263390
MedGen	120476
GARD	0007615
MedDRA	10055046
Is cancer (heuristic)	no

Also known as: Arndt-Gottron disease · generalised lichenoid papular eruption · generalised papular and sclerodermoid · generalised papular and sclerodermoid lichen myxedematosus · generalized lichenoid papular eruption · generalized papular and sclerodermoid · generalized papular and sclerodermoid lichen myxedematosus · lichen myxedematosus · mucinosis, papular · myxedematosus, lichen · papular mucinosis · Scleromyxedema · scleromyxoedema

Data availability: 3 cell lines.

Disease family

This is a subtype of lichen myxedematosus. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › integumentary system disorder › skin disorder › cutaneous mucinosis › lichen myxedematosus › scleromyxedema

Related subtypes (2): localized lichen myxedematosus, atypical lichen myxedematosus

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
EARLY_PHASE1	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT04656704	EARLY_PHASE1	WITHDRAWN	Hyaluronidase in Treating Oral Microstomia in Patients With Sclerosing Skin Disease