MCID: PRN035
MIFTS: 28

Perniosis

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Perniosis

MalaCards integrated aliases for Perniosis:

Name: Perniosis 53
Chilblains 53 37 72 33
Cold-Induced Painful or Pruritic Erythematous or Violaceous Acral Papular or Nodular Lesions 53
Idiopathic Perniosis 53
Pernio 53

Classifications:



External Ids:

KEGG 37 H01643
ICD10 33 T69.1
UMLS 72 C0008058

Summaries for Perniosis

NIH Rare Diseases : 53 Perniosis are itchy and/or tender red or purple bumps that occur as a reaction to cold. In severe cases, blistering, pustules, scabs and ulceration may also develop. Occasionally, the lesions may be ring-shaped. They may become thickened and persist for months. Perniosis is a form of vasculitis. Signs and symptoms occur hours after cold exposure. Risk factors for perniosis include having poor blood circulation (such as due to diabetes or smoking), a family history of perniosis, poor nutrition, and low body weight. Perniosis may occur alone or in association with an autoimmune condition (e.g., lupus, scleroderma), bone marrow disorder, or cancer. Treatment aims to relieve symptoms and prevent infection. Lifestyle/adaptive changes may also be recommended to prevent future symptoms.

MalaCards based summary : Perniosis, also known as chilblains, is related to chilblain lupus 2 and familial chilblain lupus, and has symptoms including fever The drug Ginkgo has been mentioned in the context of this disorder. Affiliated tissues include skin, bone and bone marrow.

KEGG : 37
Chilblains, or pernio, is a localized inflammatory lesion of the skin resulting from an abnormal response to cold. It is characterized by persistent purple or purple-red nodules on acral skin, most commonly the feet. Chilblains occurs most commonly among young women between the ages of 15 and 30 years but may occur among older individuals or children. Treatment of chilblains is focused on keeping the affected area warm, and occasionally using vasodilator agents.

Wikipedia : 75 Chilblains - also known as pernio and chill burns - is a medical condition that occurs when a... more...

Related Diseases for Perniosis

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

(show top 50) (show all 129)
# Related Disease Score Top Affiliating Genes
1 chilblain lupus 2 12.7
2 familial chilblain lupus 12.6
3 aicardi-goutieres syndrome 11.8
4 aicardi-goutieres syndrome 1 11.6
5 aicardi-goutieres syndrome 5 11.5
6 encephalopathy 11.5
7 proteasome-associated autoinflammatory syndrome 1 11.4
8 aicardi-goutieres syndrome 3 11.3
9 pseudo-torch syndrome 1 11.1
10 aicardi-goutieres syndrome 2 11.1
11 aicardi-goutieres syndrome 4 11.1
12 singleton-merten syndrome 11.1
13 sarcoidosis 1 10.7
14 skin sarcoidosis 10.5
15 panniculitis 10.4
16 lupus erythematosus 10.3
17 systemic lupus erythematosus 10.3
18 chilblain lupus 1 10.2
19 exanthem 10.2
20 purpura 10.2
21 erythrokeratoderma ''en cocardes'' 10.2
22 discoid lupus erythematosus 10.2
23 autoimmune disease 10.2
24 cutaneous lupus erythematosus 10.2
25 antiphospholipid syndrome 10.2
26 connective tissue disease 10.2
27 vasculitis 10.2
28 cyanosis, transient neonatal 10.1
29 upper respiratory tract disease 10.1
30 rheumatoid arthritis 10.1
31 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
32 lymphoma 10.1
33 leukemia 10.1
34 pancytopenia 10.1
35 thrombocytopenia 10.1
36 lymphopenia 10.1
37 arthritis 10.1
38 ige responsiveness, atopic 10.0
39 leukemia, chronic lymphocytic 10.0
40 raynaud disease 10.0
41 lymphoma, hodgkin, classic 10.0
42 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.0
43 lymphoma, non-hodgkin, familial 10.0
44 anorexia nervosa 10.0
45 erythema multiforme 10.0
46 colitis 10.0
47 lymphocytic leukemia 10.0
48 tinea corporis 10.0
49 neutropenia 10.0
50 iritis 10.0

Comorbidity relations with Perniosis via Phenotypic Disease Network (PDN):


Acute Cystitis Protein-Energy Malnutrition

Graphical network of the top 20 diseases related to Perniosis:



Diseases related to Perniosis

Symptoms & Phenotypes for Perniosis

UMLS symptoms related to Perniosis:


fever

Drugs & Therapeutics for Perniosis

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Ginkgo Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effects of Oral Ginkgo Biloba Extract on Pregnancy Complicated by Asymmetrically Intrauterine Growth Restriction: a Double-blinded Randomized Placebo-controlled Trial Completed NCT02425436 Phase 2 Ginkgo Biloba Extract
2 Characteristics and the Future of the City Chilblains Completed NCT03101761

Search NIH Clinical Center for Perniosis

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Dimethicone 410
Triamcinolone

Genetic Tests for Perniosis

Anatomical Context for Perniosis

MalaCards organs/tissues related to Perniosis:

41
Skin, Bone, Bone Marrow, Liver, Breast, Neutrophil

Publications for Perniosis

Articles related to Perniosis:

(show top 50) (show all 254)
# Title Authors PMID Year
1
[Two cases of unilateral chilblains associated with monoparesis]. 38
30929875 2019
2
Rowell's Syndrome Triggered by Omeprazole. 38
31351509 2019
3
Efficacy of Baricitinib in the Treatment of Chilblains Associated With Aicardi-Goutières Syndrome, a Type I Interferonopathy. 38
30666809 2019
4
Foot and ankle characteristics in systemic lupus erythematosus: A systematic review and meta-analysis. 38
30093237 2019
5
Two cases of perniosis in a free flap and a graft site of the hands. 38
30628107 2019
6
Ice pack-induced perniosis: a rare and underrecognized association. 38
30566562 2018
7
Dyschromatosis symmetrica hereditaria with chilblains due to a novel two-amino-acid deletion in the double-stranded RNA-binding domain of ADAR1. 38
29775506 2018
8
Chilblains accompanying interleukin-1 receptor-associated kinase (IRAK)-4 deficiency. 38
29779251 2018
9
Recurrent chilblains in a child with neurological impairment. 38
29277929 2018
10
Idiopathic chilblains in myelomonocytic leukemia: not a simple association. 38
29318596 2018
11
Cold-Induced Dermatoses: Case Report and Review of Literature. 38
28984694 2018
12
Comparative Analysis of Chilblain Lupus Erythematosus and Idiopathic Perniosis: Histopathologic Features and Immunohistochemistry for CD123 and CD30. 38
28719438 2018
13
Drug-induced Rowell syndrome, a rare and difficult to manage disease: A case report. 38
29434682 2018
14
Acral coldness - severely reduced blood flow to fingers and toes. 38
30459032 2018
15
[Renaissance medicine and the discovery of the lesser circulation: the role of Michael Servetus (1511-1553)]. 38
29402117 2017
16
A homozygote TREX1 mutation in two siblings with different phenotypes: Chilblains and cerebral vasculitis. 38
28919362 2017
17
Non-Atherosclerotic Vascular Disease in Women. 38
28913687 2017
18
Aicardi-Goutières syndrome: unusual neuro-radiological manifestations. 38
28332073 2017
19
Cold-associated perniosis of the thighs histopathologically mimicking lupus. Six observations. 38
27633611 2017
20
Human urine-based therapeutics in Spain from the early 20th century to the present: a historical literature overview and a present-day case study. 38
28767264 2017
21
Assessing the effectiveness of topical betamethasone to treat chronic chilblains: a randomised clinical trial in primary care. 38
28193616 2017
22
High Altitude Dermatology. 38
28216727 2017
23
Categorisation of foot complaints in systemic lupus erythematosus (SLE) from a New Zealand cohort. 38
28770006 2017
24
Perniosis/cold panniculitis in French equestrians: four cases. 38
27419657 2016
25
A case of perniosis. 38
28329550 2016
26
The importance of chilblains as a diagnostic clue for mild Aicardi-Goutières syndrome. 38
27604406 2016
27
Phenotypic familial aggregation in chronic chilblains. 38
27382984 2016
28
Seasonal variations in dermatologic and dermatopathologic diagnoses: a retrospective 15-year analysis of dermatopathologic data. 38
27061329 2016
29
Cold-Associated Perniosis of the Thighs ("Equestrian-Type" Chilblain): A Reappraisal Based on a Clinicopathologic and Immunohistochemical Study of 6 Cases. 38
26885604 2016
30
Nifedipine vs Placebo for Treatment of Chronic Chilblains: A Randomized Controlled Trial. 38
27621162 2016
31
Sneddon's syndrome: it is all in the ectoderm. 38
26968196 2016
32
Musculoskeletal manifestations of Fabry disease: A retrospective study. 38
26697993 2016
33
Treatment of primary perniosis with oral pentoxifylline (a double-blind placebo-controlled randomized therapeutic trial). 38
26991468 2016
34
Type I interferonopathies in pediatric rheumatology. 38
27260006 2016
35
Clinical and pathologic features of Aicardi-Goutières syndrome due to an IFIH1 mutation: A pediatric case report. 38
26833990 2016
36
Perniosis A Case Report with Literature Review. 38
27031551 2016
37
Paroxysmal finger haematoma--a benign acrosyndrome occurring in middle-aged women. 38
26986711 2016
38
Acroosteolysis presenting with brachyonychia following exposure to cold. 38
25385354 2015
39
Equestrian perniosis: A case report and review of the literature. 38
26632804 2015
40
Juvenile Spring Eruption: A Variant of Perniosis? 38
26291421 2015
41
[Diagnosis of vascular acrosyndromes]. 38
26169898 2015
42
Single-Port Microthoracoscopic Sympathicotomy for the Treatment of Primary Palmar Hyperhidrosis: an Analysis of 56 Consecutive Cases. 38
26702233 2015
43
Small lymphocytic lymphoma with florid perniosis-like features: a case report. 38
26201725 2015
44
Pattern of chilblains in a high altitude region of Ladakh, India. 38
26286795 2015
45
Cryofibrinogenemia After a Liver Transplant: First Reported Case Posttransplant and a Case-Based Review of the Nontransplant Literature. 38
24679054 2015
46
Topical Nitroglycerine in Perniosis/Chilblains. 38
26380502 2015
47
Frostbite and chilblains in Upton Sinclair's The Jungle. 38
25853456 2015
48
A case of good syndrome presumed secondary to metastatic pancreatic thymoma in a patient presenting with a myasthenic crisis postthymectomy. 38
25695921 2015
49
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. 38
25604658 2015
50
Idiopathic perniosis of the buttocks and thighs - clinical report. 38
25612119 2015

Variations for Perniosis

Expression for Perniosis

Search GEO for disease gene expression data for Perniosis.

Pathways for Perniosis

GO Terms for Perniosis

Sources for Perniosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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