MCID: SCL002
MIFTS: 46

Scleredema Adultorum

Categories: Blood diseases, Rare diseases, Skin diseases

Aliases & Classifications for Scleredema Adultorum

MalaCards integrated aliases for Scleredema Adultorum:

Name: Scleredema Adultorum 12 52 43 15 17 71
Buschke's Scleredema 12 52
Scleredema 52 58
Scleredema Diabeticorum of Buschke 52
Scleredema Adultorum of Buschke 52
Scleredema Diabeticorum 52
Buschke Scleredema 58

Characteristics:

Orphanet epidemiological data:

58
scleredema
Inheritance: Not applicable; Age of onset: Adolescent,Adult,Childhood,Infancy;

Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:3140
MeSH 43 D012592
NCIt 49 C85057
SNOMED-CT 67 95323007
ICD10 via Orphanet 33 M34.8
Orphanet 58 ORPHA352763
UMLS 71 C0036413

Summaries for Scleredema Adultorum

NIH Rare Diseases : 52 Scleredema is a form of cutaneous mucinosis , a diverse group of rare skin conditions that are characterized by an accumulation of mucin (a jelly-like complex carbohydrate substance) in the skin. Signs and symptoms of this condition include hardening and thickening of the skin which may restrict movement. Skin in affected areas may be red or brown and often has an 'orange-skin' appearance. There are three forms of the condition which vary by disease course and long term outlook (prognosis ). Although the underlying cause is currently unknown, each form is associated with a different condition: infection (type 1), blood abnormalities (type 2), and diabetes (type 3). In some cases, scleredema resolves spontaneously on its own, while in other affected people, the condition persists for long periods of time. Due to the rarity of the condition, there is no standard treatment.

MalaCards based summary : Scleredema Adultorum, also known as buschke's scleredema, is related to primary hyperparathyroidism and localized scleroderma, and has symptoms including skin hardening, pruritus and exanthema. An important gene associated with Scleredema Adultorum is MATN4 (Matrilin 4), and among its related pathways/superpathways are NF-kappaB Signaling and Degradation of the extracellular matrix. The drugs Histamine and Tranilast have been mentioned in the context of this disorder. Affiliated tissues include skin, testes and bone marrow, and related phenotypes are cellular and immune system

Disease Ontology : 12 A skin disease that is characterized by induration of the skin, especially of the neck and upper trunk, has symptom skin hardening or stiffening, and is associated with infections (especially streptococcal), hematologic malignancies, diabetes, and adverse drug reactions.

Wikipedia : 74 Scleredema, is a rare, self-limiting skin condition defined by progressive thickening and hardening of... more...

Related Diseases for Scleredema Adultorum

Diseases related to Scleredema Adultorum via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 192)
# Related Disease Score Top Affiliating Genes
1 primary hyperparathyroidism 30.4 PTH POMC INS
2 localized scleroderma 30.0 MMP1 DCN CD34
3 systemic scleroderma 29.8 INS FN1 FBN1 CD8A
4 osteoarthritis 29.8 MMP1 MATN3 MATN1 DCN
5 peripheral nervous system disease 29.0 POMC INS FN1 CD8A
6 myeloma, multiple 28.8 PTH NCAM1 FN1 FAS CD8A CD34
7 diabetes mellitus 10.5
8 skin disease 10.5
9 achondrogenesis, type ia 10.5 MATN4 MATN2
10 raynaud phenomenon 10.4
11 hypochondrogenesis 10.4 MATN3 MATN1
12 cervical incompetence 10.4 FN1 DCN
13 eosinophilic fasciitis 10.4
14 hyperparathyroidism 10.4
15 mucinoses 10.4
16 fasciitis 10.4
17 scleromyxedema 10.4
18 epiphyseal dysplasia, multiple, 5 10.3 MATN4 MATN3 MATN1
19 opsoclonus-myoclonus syndrome 10.3 POMC CXCL9
20 achondrogenesis 10.3 MATN4 MATN3 MATN1
21 odontogenic myxoma 10.3 MMP1 DCN
22 kidney hypertrophy 10.3 INS FN1
23 pseudoachondroplasia 10.3 MATN3 MATN1 DCN
24 progressive familial heart block, type ia 10.3
25 stiff skin syndrome 10.3
26 rheumatic fever-related antigen 10.3
27 cardiac arrest 10.3
28 rheumatic fever 10.3
29 pericarditis 10.3
30 amyloidosis 10.3
31 erythrokeratoderma ''en cocardes'' 10.3
32 pituitary infarct 10.3 POMC INS
33 acidophil adenoma 10.3 POMC INS
34 neonatal marfan syndrome 10.3 FBN1 DCN
35 atrial standstill 1 10.2
36 myositis 10.2
37 dowling-degos disease 1 10.2
38 scleroderma, familial progressive 10.2
39 mumps 10.2
40 primary biliary cirrhosis 10.2
41 secondary hyperparathyroidism 10.2
42 polyneuropathy 10.2
43 lymphadenitis 10.2
44 keratosis 10.2
45 purpura 10.2
46 necrobiosis lipoidica 10.2
47 cellulitis 10.2
48 liver cirrhosis 10.2
49 congestive heart failure 10.2
50 connective tissue disease 10.2

Graphical network of the top 20 diseases related to Scleredema Adultorum:



Diseases related to Scleredema Adultorum

Symptoms & Phenotypes for Scleredema Adultorum

Symptoms:

12
  • skin hardening

UMLS symptoms related to Scleredema Adultorum:


pruritus, exanthema

MGI Mouse Phenotypes related to Scleredema Adultorum:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.11 CD34 CD8A DCN FAS FBN1 FN1
2 immune system MP:0005387 10.03 BAZ2A CD34 CD8A DCN FAS FBN1
3 hematopoietic system MP:0005397 10.02 BAZ2A CD34 CD8A DCN FAS FBN1
4 integument MP:0010771 9.81 BAZ2A CD34 CD8A DCN FAS FBN1
5 neoplasm MP:0002006 9.43 CD34 DCN FAS FN1 MMP1 POMC
6 renal/urinary system MP:0005367 9.17 BAZ2A CD8A DCN FAS FBN1 INS

Drugs & Therapeutics for Scleredema Adultorum

Drugs for Scleredema Adultorum (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 17)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Histamine Approved, Investigational Early Phase 1 51-45-6 774
2
Tranilast Investigational Early Phase 1 53902-12-8 93543
3 Analgesics, Non-Narcotic Early Phase 1
4 Anti-Allergic Agents Early Phase 1
5 Hormones Early Phase 1
6 Analgesics Early Phase 1
7 Histamine Antagonists Early Phase 1
8 Histamine H1 Antagonists Early Phase 1
9
Histamine Phosphate Early Phase 1 51-74-1 65513
10 Platelet Aggregation Inhibitors Early Phase 1
11 Anti-Inflammatory Agents Early Phase 1
12 Neurotransmitter Agents Early Phase 1
13 Calcium, Dietary Early Phase 1
14 Anti-Inflammatory Agents, Non-Steroidal Early Phase 1
15 Antirheumatic Agents Early Phase 1
16 calcium channel blockers Early Phase 1
17
Calcium Nutraceutical Early Phase 1 7440-70-2 271

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Screening Patients With Diabetes Mellitus for the Presence of Scleredema Adultorum of Buschke and Characterize Clinical-laboratory Findings of the Newly Identified Cases: a Single-center, Prospective, Obsevational Study Recruiting NCT04335396
2 A Clinical Study of Tranilast in the Treatment of Scleredema Diabeticorum Not yet recruiting NCT03512873 Early Phase 1 Tranilast

Search NIH Clinical Center for Scleredema Adultorum

Cochrane evidence based reviews: scleredema adultorum

Genetic Tests for Scleredema Adultorum

Anatomical Context for Scleredema Adultorum

MalaCards organs/tissues related to Scleredema Adultorum:

40
Skin, Testes, Bone Marrow, Bone, Brain, Heart, Lung

Publications for Scleredema Adultorum

Articles related to Scleredema Adultorum:

(show top 50) (show all 405)
# Title Authors PMID Year
1
Scleredema and nodal inflammatory pseudotumor: IgG4-related disease? 61
32530044 2020
2
Scleredema of Buschke associated with lichen sclerosus: Three cases. 61
30289118 2020
3
Scleredema diabeticorum: Description of 11 cases. 61
30717999 2020
4
Sclerodermalike syndromes: Great imitators. 61
32513403 2020
5
Scleredema adultorum of Buschke treated by extracorporeal shock wave therapy. 61
31733081 2020
6
Scleredema in the setting of Rheumatoid Arthritis. 61
31502275 2020
7
A case of concurrent systemic sclerosis and scleredema. 61
31687459 2019
8
[Sclerosing skin diseases]. 61
31292667 2019
9
Efficacy of vitamin E combined with heparin sodium cream in treatment of scleredema neonatorum. 61
31355597 2019
10
A comparative study of thoracoscopic and open surgery of congenital diaphragmatic hernia in neonates. 61
31242917 2019
11
Scleredema associated with immunoglobulin A-κ smoldering myeloma: a case report and review of the literature. 61
31084620 2019
12
Intravenous immunoglobulin treatment: Where do dermatologists stand? 61
30756448 2019
13
Reticular Erythematous Mucinosis: A Rare Cutaneous. 61
31032786 2019
14
Coexisting cutaneous macroglobulinosis and scleredema of Buschke in a patient with a Waldenström Macroglobulinemia. 61
30267590 2019
15
Youth-Onset Type 2 Diabetes Manifestations in other Specialties: Its Many Disguises. 61
31096219 2019
16
An Unusual Presentation of a Rare Scleroderma Mimic: What is Behind the Scenes? 61
30088450 2019
17
[Scleredema adultorum : Clinical presentation, diagnostic workup, differential diagnosis, treatment option]. 61
30128796 2018
18
Implementation and evaluation of a rehabilitation concept in a patient suffering from Scleredema Adultorum Buschke: a case report. 61
28738698 2018
19
[Efficacy and safety of selective brain hypothermia therapy on neonatal hypoxic-ischemic encephalopathy]. 61
30541643 2018
20
Paclitaxel-related scleredema-like skin changes in a patient with breast cancer. 61
28944958 2018
21
Serositis in a child with scleredema of Buschke: an unusual association and improvement following glucocorticoids. 61
28895446 2018
22
[Buschke's scleredema successfully treated with extracorporeal photopheresis]. 61
29544653 2018
23
Ultrasonographic Findings of Scleredema Adultorum of Buschke Involving the Posterior Neck. 61
29713220 2018
24
Scleroderma with an update about clinico-pathological correlation. 61
29368844 2018
25
Scleroderma-like Disorders. 61
28606036 2018
26
Successful Treatment of Scleredema Diabeticorum With Tranilast: Three Case Reports. 61
29374068 2018
27
Letter on 'European dermatology forum S1-guideline on the diagnosis and treatment of sclerosing diseases of the skin, Part 2: Scleromyxedema, scleredema and nephrogenic systemic fibrosis'. 61
29283443 2018
28
Scleredema Diabeticorum with Superimposed Cellulitis and Abscess Formation. 61
29850291 2018
29
Miscellaneous skin disease and the metabolic syndrome. 61
29241760 2018
30
Anti-carbamylated protein antibodies and skin involvement in patients with systemic sclerosis: An intriguing association. 61
30596753 2018
31
Cutaneous Manifestations of Scleroderma and Scleroderma-Like Disorders: a Comprehensive Review. 61
28712039 2017
32
[SKIN PATHOLOGY IN DIABETES MELLITUS: CLINICAL AND PATHOPHYSIOLOGICAL CORRELATIONS (REVIEW)]. 61
29328028 2017
33
European dermatology forum S1-guideline on the diagnosis and treatment of sclerosing diseases of the skin, Part 2: Scleromyxedema, scleredema and nephrogenic systemic fibrosis. 61
28786499 2017
34
Scleredema of Buschke with prominent periorbital edema. 61
28464273 2017
35
Cutaneous Manifestations of Diabetes Mellitus: A Review. 61
28374407 2017
36
Successful treatment with IVIg therapy of diabetes-associated scleredema severe progressive case and review of the literature. 61
28573670 2017
37
Pathophysiological Mechanisms in Sclerosing Skin Diseases. 61
28868289 2017
38
Idiopathic scleredema. 61
28329532 2016
39
Scleredema of Buschke. 61
28149667 2016
40
Atypical Scleredema Involving the Hands in an Adolescent. 61
27573162 2016
41
Laboratory Testing in the Setting of Diabetic Scleredema. 61
27483073 2016
42
Laboratory Testing in the Setting of Diabetic Scleredema--Reply. 61
27483076 2016
43
[Risk factors for concurrent sepsis in neonates with necrotizing enterocolitis]. 61
27530780 2016
44
Scleredema of Buschke associated with difficult-to-control type 2 diabetes mellitus. 61
27310540 2016
45
Scleredema adultorum of Buschke with prominent periorbital edema in a Tunisian patient with diabetes mellitus: a case report. 61
26536602 2016
46
A case of scleredema adultorum successfully treated with narrow-band ultraviolet B phototherapy. 61
24499427 2016
47
Long-term benefit of electron beam radiation therapy in the treatment of scleredema of Buschke. 61
28799569 2016
48
Therapy resistant idiopathic scleredema: an underlying pathology not always present. 61
27708956 2015
49
[Monoclonal immunoglobulin (M-Ig) and skin diseases from the group of mucinoses--scleredema adultorum Buschke and scleromyxedema. Description of four cases and an overview of therapies]. 61
26806503 2015
50
Scleredema. A multicentre study of characteristics, comorbidities, course and therapy in 44 patients. 61
26304054 2015

Variations for Scleredema Adultorum

Expression for Scleredema Adultorum

Search GEO for disease gene expression data for Scleredema Adultorum.

Pathways for Scleredema Adultorum

GO Terms for Scleredema Adultorum

Cellular components related to Scleredema Adultorum according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 10 PTH POMC MATN4 MATN3 MATN2 MATN1
2 collagen-containing extracellular matrix GO:0062023 9.76 NCAM1 MATN4 MATN3 MATN2 MATN1 FN1
3 external side of plasma membrane GO:0009897 9.72 NCAM1 FAS CXCL9 CD8A CD34
4 endoplasmic reticulum lumen GO:0005788 9.71 MATN3 INS FN1 FBN1
5 extracellular matrix GO:0031012 9.56 MMP1 MATN4 MATN3 MATN2 MATN1 FN1
6 basement membrane GO:0005604 9.54 MATN2 FN1 FBN1
7 extracellular region GO:0005576 9.53 PTH POMC NCAM1 MMP1 MATN4 MATN3

Biological processes related to Scleredema Adultorum according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.56 PTH POMC INS CXCL9
2 cellular protein metabolic process GO:0044267 9.55 MMP1 MATN3 INS FN1 FBN1
3 wound healing GO:0042060 9.5 INS FN1 DCN
4 positive regulation of glycogen biosynthetic process GO:0045725 9.37 PTH INS
5 growth plate cartilage chondrocyte morphogenesis GO:0003429 9.26 MATN4 MATN3 MATN2 MATN1
6 extracellular matrix organization GO:0030198 9.17 MMP1 MATN4 MATN3 MATN1 FN1 FBN1

Molecular functions related to Scleredema Adultorum according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.26 PTH POMC INS FBN1
2 extracellular matrix structural constituent GO:0005201 9.02 MATN3 MATN2 MATN1 FN1 FBN1

Sources for Scleredema Adultorum

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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