MCID: SCL002
MIFTS: 45

Scleredema Adultorum

Categories: Blood diseases, Rare diseases, Skin diseases

Aliases & Classifications for Scleredema Adultorum

MalaCards integrated aliases for Scleredema Adultorum:

Name: Scleredema Adultorum 12 20 44 15 17 71
Buschke's Scleredema 12 20
Scleredema 20 58
Scleredema Diabeticorum of Buschke 20
Scleredema Adultorum of Buschke 20
Scleredema Diabeticorum 20
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 44 D012592
NCIt 50 C85057
SNOMED-CT 67 72967001
ICD10 via Orphanet 33 M34.8
Orphanet 58 ORPHA352763
UMLS 71 C0036413

Summaries for Scleredema Adultorum

GARD : 20 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 CXCL9 (C-X-C Motif Chemokine Ligand 9), and among its related pathways/superpathways are Allograft rejection and NF-kappaB Signaling. The drugs Histamine and Tranilast have been mentioned in the context of this disorder. Affiliated tissues include skin, bone marrow and thyroid, and related phenotypes are cellular and hematopoietic 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 215)
# Related Disease Score Top Affiliating Genes
1 primary hyperparathyroidism 30.3 PTH POMC INS
2 localized scleroderma 30.0 MMP1 DCN CD34
3 systemic scleroderma 29.9 INS FN1 FBN1 CD8A
4 myeloma, multiple 29.8 NCAM1 FN1 CD8A CD34
5 lymphadenitis 29.7 FAS CXCL9 CD8A
6 connective tissue disease 29.3 PTH FN1 FBN1 CD8A
7 vascular disease 29.2 PTH INS FN1 CD34
8 diabetes mellitus 28.9 PTH POMC MMP1 INS FAS CD34
9 peripheral nervous system disease 28.4 POMC NCAM1 INS FN1 CD8A CD34
10 skin disease 10.3
11 cervical incompetence 10.3 FN1 DCN
12 kidney hypertrophy 10.3 INS FN1
13 opsoclonus-myoclonus syndrome 10.3 POMC CXCL9
14 raynaud phenomenon 10.3
15 odontogenic myxoma 10.3 MMP1 DCN
16 acidophil adenoma 10.2 POMC INS
17 pituitary infarct 10.2 POMC INS
18 eosinophilic fasciitis 10.2
19 hyperparathyroidism 10.2
20 mucinoses 10.2
21 fasciitis 10.2
22 scleromyxedema 10.2
23 benign essential hypertension 10.2 POMC INS
24 tendinosis 10.2 MMP1 DCN
25 sheehan syndrome 10.2 POMC INS
26 ovarian serous adenofibroma 10.2 POMC NCAM1
27 hypothalamic disease 10.2 POMC INS
28 decubitus ulcer 10.2 INS FN1
29 olfactory nerve neoplasm 10.2 POMC NCAM1
30 neurotic disorder 10.2 POMC INS
31 neonatal marfan syndrome 10.2 FBN1 DCN
32 cranial nerve malignant neoplasm 10.2 POMC NCAM1
33 benign pleural mesothelioma 10.2 INS CD34
34 calciphylaxis 10.2 PTH FN1
35 retroperitoneal hemangiopericytoma 10.2 INS CD34
36 cranial nerve neoplasm 10.2 POMC NCAM1
37 conventional fibrosarcoma 10.2 FN1 CD34
38 pituitary apoplexy 10.2 POMC INS
39 pancreatic endocrine carcinoma 10.2 NCAM1 INS
40 glomangiosarcoma 10.2 NCAM1 CD34
41 empty sella syndrome 10.2 POMC INS
42 cutaneous ganglioneuroma 10.2 NCAM1 CD34
43 potter's syndrome 10.2 INS CD34
44 vulvar leiomyoma 10.2 NCAM1 CD34
45 chronic actinic dermatitis 10.2 MMP1 FBN1
46 hyperpituitarism 10.2 POMC INS
47 orbital cancer 10.2 NCAM1 CD34
48 progeroid syndrome 10.2 FBN1 DCN
49 nasal cavity benign neoplasm 10.2 NCAM1 CD34
50 prostate stromal sarcoma 10.2 NCAM1 CD34

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.1 CD34 CD8A DCN FAS FBN1 FN1
2 hematopoietic system MP:0005397 9.97 CD34 CD8A DCN FAS FBN1 FN1
3 immune system MP:0005387 9.96 CD34 CD8A DCN FAS FBN1 FN1
4 endocrine/exocrine gland MP:0005379 9.91 CD8A DCN FAS FBN1 INS POMC
5 integument MP:0010771 9.76 CD34 CD8A DCN FAS FBN1 FN1
6 neoplasm MP:0002006 9.43 CD34 DCN FAS FN1 MMP1 POMC
7 renal/urinary system MP:0005367 9.1 CD8A DCN FAS FBN1 INS POMC

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, 75614-87-8 774
2
Tranilast Investigational Early Phase 1 53902-12-8 93543
3 Anti-Inflammatory Agents Early Phase 1
4 Analgesics, Non-Narcotic Early Phase 1
5 Anti-Inflammatory Agents, Non-Steroidal Early Phase 1
6 Platelet Aggregation Inhibitors Early Phase 1
7 Hormones Early Phase 1
8 Histamine Antagonists Early Phase 1
9 Analgesics Early Phase 1
10
Histamine Phosphate Early Phase 1 51-74-1 65513
11 Antirheumatic Agents Early Phase 1
12 Neurotransmitter Agents Early Phase 1
13 Anti-Allergic Agents Early Phase 1
14 Histamine H1 Antagonists Early Phase 1
15 Calcium, Dietary 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 A Clinical Study of Tranilast in the Treatment of Scleredema Diabeticorum Unknown status NCT03512873 Early Phase 1 Tranilast
2 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

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, Bone Marrow, Thyroid, Pituitary

Publications for Scleredema Adultorum

Articles related to Scleredema Adultorum:

(show top 50) (show all 409)
# Title Authors PMID Year
1
Usefulness of high-frequency Doppler ultrasound skin thickness measurement for disease staging and assessing treatment response in patients with scleredema: a case-control study. 61
33493571 2021
2
Unilateral Linear Induration of the Skin: A Case Report of an Unusual Presentation of Scleredema. 61
33488921 2020
3
Concurrent Scleredema and Pyoderma Gangrenosum: Case Report and Review of Comorbid Conditions. 61
33489598 2020
4
Diabetes-associated dermatological manifestations in primary care and their association with vascular complications. 61
33520817 2020
5
Hyaluronidase in Dermatology: Uses Beyond Hyaluronic Acid Fillers. 61
33026763 2020
6
A case of paraproteinemia-associated scleredema successfully treated with thalidomide. 61
32995440 2020
7
Scleredema and nodal inflammatory pseudotumor: IgG4-related disease? 61
32530044 2020
8
Scleredema of Buschke associated with lichen sclerosus: Three cases. 61
30289118 2020
9
Scleredema diabeticorum: Description of 11 cases. 61
30717999 2020
10
Sclerodermalike syndromes: Great imitators. 61
32513403 2020
11
Scleredema adultorum of Buschke treated by extracorporeal shock wave therapy. 61
31733081 2020
12
Scleredema in the setting of Rheumatoid Arthritis. 61
31502275 2020
13
A case of concurrent systemic sclerosis and scleredema. 61
31687459 2019
14
[Sclerosing skin diseases]. 61
31292667 2019
15
Efficacy of vitamin E combined with heparin sodium cream in treatment of scleredema neonatorum. 61
31355597 2019
16
A comparative study of thoracoscopic and open surgery of congenital diaphragmatic hernia in neonates. 61
31242917 2019
17
Scleredema associated with immunoglobulin A-κ smoldering myeloma: a case report and review of the literature. 61
31084620 2019
18
Intravenous immunoglobulin treatment: Where do dermatologists stand? 61
30756448 2019
19
Reticular Erythematous Mucinosis: A Rare Cutaneous. 61
31032786 2019
20
Coexisting cutaneous macroglobulinosis and scleredema of Buschke in a patient with a Waldenström Macroglobulinemia. 61
30267590 2019
21
An Unusual Presentation of a Rare Scleroderma Mimic: What is Behind the Scenes? 61
30088450 2019
22
Youth-Onset Type 2 Diabetes Manifestations in other Specialties: Its Many Disguises. 61
31096219 2019
23
Implementation and evaluation of a rehabilitation concept in a patient suffering from Scleredema Adultorum Buschke: a case report. 61
28738698 2018
24
[Efficacy and safety of selective brain hypothermia therapy on neonatal hypoxic-ischemic encephalopathy]. 61
30541643 2018
25
[Scleredema adultorum : Clinical presentation, diagnostic workup, differential diagnosis, treatment option]. 61
30128796 2018
26
Paclitaxel-related scleredema-like skin changes in a patient with breast cancer. 61
28944958 2018
27
Serositis in a child with scleredema of Buschke: an unusual association and improvement following glucocorticoids. 61
28895446 2018
28
Ultrasonographic Findings of Scleredema Adultorum of Buschke Involving the Posterior Neck. 61
29713220 2018
29
[Buschke's scleredema successfully treated with extracorporeal photopheresis]. 61
29544653 2018
30
Successful Treatment of Scleredema Diabeticorum With Tranilast: Three Case Reports. 61
29374068 2018
31
Scleroderma with an update about clinico-pathological correlation. 61
29368844 2018
32
Scleroderma-like Disorders. 61
28606036 2018
33
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
34
Anti-carbamylated protein antibodies and skin involvement in patients with systemic sclerosis: An intriguing association. 61
30596753 2018
35
Miscellaneous skin disease and the metabolic syndrome. 61
29241760 2018
36
Scleredema Diabeticorum with Superimposed Cellulitis and Abscess Formation. 61
29850291 2018
37
Cutaneous Manifestations of Scleroderma and Scleroderma-Like Disorders: a Comprehensive Review. 61
28712039 2017
38
[SKIN PATHOLOGY IN DIABETES MELLITUS: CLINICAL AND PATHOPHYSIOLOGICAL CORRELATIONS (REVIEW)]. 61
29328028 2017
39
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
40
Scleredema of Buschke with prominent periorbital edema. 61
28464273 2017
41
Cutaneous Manifestations of Diabetes Mellitus: A Review. 61
28374407 2017
42
Successful treatment with IVIg therapy of diabetes-associated scleredema severe progressive case and review of the literature. 61
28573670 2017
43
Pathophysiological Mechanisms in Sclerosing Skin Diseases. 61
28868289 2017
44
Scleredema of Buschke. 61
28149667 2016
45
Idiopathic scleredema. 61
28329532 2016
46
Atypical Scleredema Involving the Hands in an Adolescent. 61
27573162 2016
47
Laboratory Testing in the Setting of Diabetic Scleredema--Reply. 61
27483076 2016
48
Laboratory Testing in the Setting of Diabetic Scleredema. 61
27483073 2016
49
[Risk factors for concurrent sepsis in neonates with necrotizing enterocolitis]. 61
27530780 2016
50
Scleredema of Buschke associated with difficult-to-control type 2 diabetes mellitus. 61
27310540 2016

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 9.7 PTH POMC INS FN1 FBN1 DCN
2 collagen-containing extracellular matrix GO:0062023 9.62 NCAM1 FN1 FBN1 DCN
3 extracellular matrix GO:0031012 9.56 MMP1 FN1 FBN1 DCN
4 extracellular region GO:0005576 9.4 PTH POMC NCAM1 MMP1 INS FN1
5 external side of plasma membrane GO:0009897 9.35 NCAM1 FAS CXCL9 CD8A CD34

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

# Name GO ID Score Top Affiliating Genes
1 leukocyte migration GO:0050900 9.58 MMP1 FN1 CD34
2 wound healing GO:0042060 9.5 INS FN1 DCN
3 extracellular matrix organization GO:0030198 9.46 MMP1 FN1 FBN1 DCN
4 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.43 INS FN1 DCN
5 positive regulation of glycogen biosynthetic process GO:0045725 9.37 PTH INS
6 cell-cell signaling GO:0007267 9.26 PTH POMC INS CXCL9
7 cellular protein metabolic process GO:0044267 8.92 MMP1 INS 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 8.92 PTH POMC INS FBN1

Sources for Scleredema Adultorum

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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