Scleromyxedema
Synonyms: Arndt-Gottron disease · Generalized lichenoid papular eruption · Generalized papular and sclerodermoid lichen myxedematosus
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adult
- Status
- active
A rare lichen myxedematosus characterized by a progressive, generalized, papular, sclerodermoid cutaneous eruption usually occurring in association with monoclonal gammopathy, but in the absence of thyroid disease. Histological hallmark is the triad of dermal mucin deposition, fibroblast proliferation, and fibrosis. Patients present with relatively sudden onset of numerous closely spaced, waxy, firm papules and plaques predominantly involving the head, neck, trunk, and dorsal aspects of the extremities, on the background of thickened, edematous, erythematous skin with sclerodermoid appearance. Systemic involvement with cardiovascular, gastrointestinal, pulmonary, musculoskeletal, renal, or nervous system complications is common.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Scleromyxedema | Arndt-Gottron disease · Generalized lichenoid papular eruption · Generalized papular and sclerodermoid lichen myxedematosus |
| fr | Scléromyxoedème | Lichen myxoedémateux généralisé · Maladie d'Arndt-Gottron · Mucinose papuloscléreuse généralisée |
| de | Skleromyxödem | Arndt-Gottron-Syndrom · Generalisierter papulärer und sklerodermoider Lichen myxoedematosus · Muzinose, lichenoide papuläre, generalisierte Variante |
| es | Escleromixedema | Enfermedad de Arndt-Gottron · Erupción papular liquenoide generalizada · Líquen mixedematoso generalizado papular y esclerodermoide · Mixedematosis papular y esclerodermoide generalizada |
| it | Scleromixedema | Eruzione papulosa lichenoide generalizzata · Lichen mixedematoso sclerodermoide e papuloso generalizzato · Malattia di Arndt-Gottron |
| nl | Scleromyxoedeem | Gegeneraliseerde lichenoïde papulaire eruptie · Gegeneraliseerde papulaire en sclerodermoïde lichen myxoedematosus · Ziekte van Arndt-Gottron |
| pt | Escleromixedema | |
| pl | Liszaj śluzowaty twardzinowy | Choroba Arndta i Gottrona · Uogólniona wysypka grudkowa liszajowata |
| cs | Skleromyxedém | Arndtova-Gottronova choroba · Generalizovaná lichenoidní papulární erupce · Generalizovaný papulární a sklerodermoidní lichen myxedematosus · Arndt-Gottronova choroba |
| uk | Склеромікседема | Хвороба Арндта-Готтрона · Генералізований ліхеноїдний папульозний висип · Генералізований папульозний та склеродермоїдний червоний плескатий лишай |
| zh | 硬化性黏液水肿 | 全身性丘疹样和硬皮病样黏液水肿性苔藓 |
| tr | Skleromiksödem | Arndt-Gottron hastalığı · Jeneralize likenoid papüler püskürme · Jeneralize papüler ve sklerodermoid liken miksödemöz |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | L98.5 | NTBT | index | validated |
| ICD-11 | EB90.11 | NTBT | index | validated |
| MONDO | 0015665 | E | validated | |
| MeSH | D053718 | E | validated | |
| UMLS | C0263390 | E | validated | |
| GARD | 7615 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:402007Lichen myxedematosus
rare skin diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 250 cases | Worldwide | Case(s) | Validated | 25814746[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
41 annotations · validated 2021-03-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011354 | Generalized abnormality of skin | |
| HP:0200034 | Papule | |
| HP:0031047 | Paraproteinemia | |
| Frequent (79-30%) | ||
| HP:0000271 | Abnormality of the face | |
| HP:0002973 | Abnormality of the forearm | |
| HP:0002056 | Abnormality of the glabella | |
| HP:0001155 | Abnormality of the hand | |
| HP:0000464 | Abnormality of the neck | |
| HP:0002829 | Arthralgia | |
| HP:0002015 | Dysphagia | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0003198 | Myopathy | |
| HP:0003701 | Proximal muscle weakness | |
| HP:0011838 | Sclerodactyly | |
| HP:0025512 | Skin-colored papule | |
| HP:0030053 | Stiff skin | |
| HP:0001072 | Thickened skin | |
| Occasional (29-5%) | ||
| HP:0002088 | Abnormal lung morphology | |
| HP:0011805 | Abnormal skeletal muscle morphology | |
| HP:0030178 | Abnormality of central nervous system electrophysiology | |
| HP:0001626 | Abnormality of the cardiovascular system | |
| HP:0011024 | Abnormality of the gastrointestinal tract | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0008509 | Aged leonine appearance | |
| HP:0002460 | Distal muscle weakness | |
| HP:0001298 | Encephalopathy | |
| HP:0002875 | Exertional dyspnea | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0100771 | Hypoperistalsis | |
| HP:0003326 | Myalgia | |
| HP:0000160 | Narrow mouth | |
| HP:0000989 | Pruritus | |
| HP:0030880 | Raynaud phenomenon | |
| HP:0001250 | Seizure | |
| Very rare (<4-1%) | ||
| HP:0006704 | Abnormal coronary artery morphology | |
| HP:0030966 | Abnormal pulmonary artery morphology | |
| HP:0001259 | Coma | |
| HP:0006775 | Multiple myeloma | |
| HP:0001297 | Stroke | |
| HP:0002326 | Transient ischemic attack | |
| Excluded (0%) | ||
| HP:0002926 | Abnormality of thyroid physiology | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 32358980[PMID]_31115676[PMID]_23874293[PMID]_25215418[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/167635
- This record as JSON: /data/d/167635.json