MCID: PRN035
MIFTS: 27

Perniosis

Categories: Blood diseases, Cardiovascular diseases, Rare diseases, Skin diseases

Aliases & Classifications for Perniosis

MalaCards integrated aliases for Perniosis:

Name: Perniosis 20
Chilblains 20 36 70 32
Cold-Induced Painful or Pruritic Erythematous or Violaceous Acral Papular or Nodular Lesions 20
Idiopathic Perniosis 20
Pernio 20

Classifications:



External Ids:

KEGG 36 H01643
ICD10 32 T69.1
UMLS 70 C0008058

Summaries for Perniosis

GARD : 20 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 aicardi-goutieres syndrome and proteasome-associated autoinflammatory syndrome 1, and has symptoms including fever Affiliated tissues include bone marrow, skin and lung.

KEGG : 36 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 : 73 Chilblains, also known as pernio and chill burns, are a medical condition in which damage occurs to... more...

Related Diseases for Perniosis

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

(show top 50) (show all 104)
# Related Disease Score Top Affiliating Genes
1 aicardi-goutieres syndrome 11.2
2 proteasome-associated autoinflammatory syndrome 1 11.0
3 aicardi-goutieres syndrome 1 10.9
4 pseudo-torch syndrome 1 10.9
5 aicardi-goutieres syndrome 3 10.9
6 encephalopathy 10.9
7 sarcoidosis 1 10.6
8 skin sarcoidosis 10.3
9 panniculitis 10.2
10 exanthem 10.1
11 chilblain lupus 1 10.1
12 vasculitis 10.1
13 autoimmune disease 10.0
14 vasculitis, lymphocytic, nodular 10.0
15 cutaneous lupus erythematosus 10.0
16 severe acute respiratory syndrome 10.0
17 antiphospholipid syndrome 10.0
18 connective tissue disease 10.0
19 cyanosis, transient neonatal 10.0
20 upper respiratory tract disease 10.0
21 urticaria 9.9
22 interstitial lung disease 9.9
23 skin disease 9.9
24 lung disease 9.9
25 familial chilblain lupus 9.9
26 ige responsiveness, atopic 9.8
27 leukemia, chronic lymphocytic 9.8
28 raynaud disease 9.8
29 lymphoma, hodgkin, classic 9.8
30 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 9.8
31 lymphoma, non-hodgkin, familial 9.8
32 anorexia nervosa 9.8
33 erythema multiforme 9.8
34 lymphoma 9.8
35 colitis 9.8
36 covid-19 9.8
37 tinea corporis 9.8
38 iritis 9.8
39 keratosis 9.8
40 viral hepatitis 9.8
41 hidradenitis 9.8
42 dermatitis 9.8
43 cryoglobulinemia 9.8
44 purpura 9.8
45 granuloma annulare 9.8
46 b-cell lymphoma 9.8
47 crohn's disease 9.8
48 dermatophytosis 9.8
49 cryofibrinogenemia 9.8
50 raynaud phenomenon 9.8

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Chilblains, COVID-19 and Lockdown: Epidemiologic Study Completed NCT04455308
2 Characteristics and the Future of the City Chilblains Completed NCT03101761
3 Analysis of Chilblains Profile During COVID-19 Epidemic Recruiting NCT04387955
4 Assessment of Skin Manifestations Occuring During Covid-19 Infection With a Special Focus on Chilbains Recruiting NCT04344119

Search NIH Clinical Center for Perniosis

Genetic Tests for Perniosis

Anatomical Context for Perniosis

MalaCards organs/tissues related to Perniosis:

40
Bone Marrow, Skin, Lung, Endothelial, Neutrophil

Publications for Perniosis

Articles related to Perniosis:

(show top 50) (show all 387)
# Title Authors PMID Year
1
COVID Purpura (Toes) Case Series: A Chilblains-Like Vasculopathy. 61
33156022 2021
2
Dermatologic manifestations of COVID-19: a comprehensive systematic review. 61
33141443 2021
3
A Pediatric Case of Gingival Swelling and Chilblains as Previously Unrecognized Manifestations of Chronic Nonbacterial Osteomyelitis. 61
31972737 2021
4
A case of antisynthetase syndrome with chilblains-like lesions and microangiopathy. 61
33768864 2021
5
Association between COVID-19 and chilblains: a case-control study. 61
33651424 2021
6
Idiopathic perniosis presenting as acral purpuric lesions: Clustering of cases before COVID-19 pandemic and their comparison with chilblain like lesions reported in the literature. 61
33740317 2021
7
A Review of COVID-19 Chilblains-like Lesions and their Differential Diagnosis. 61
33797425 2021
8
Pre-ulcerative leishmaniasis mimicking chilblains in a returning traveller from Southern Europe. 61
33735478 2021
9
Recurrence of chilblains during a second contact with SARS-CoV-2: a case report. 61
33733452 2021
10
Chilblains in a child with confirmed SARS-CoV-2 infection: a red flag for late-onset skin manifestation in previously infected individuals. 61
33651419 2021
11
[COVID-toes, a cutaneous sign of innate resistance to SARS-CoV-2]. 61
33793103 2021
12
Characteristics of perniosis in an Australian population. 61
33660840 2021
13
Pharmacokinetic study of traditional Japanese Kampo medicine shimotsuto used to treat gynecological diseases in rats. 61
33398677 2021
14
Pharmacologic Treatment of Idiopathic Chilblains (Pernio): A Systematic Review. 61
33653127 2021
15
Skin manifestations of COVID-19: A worldwide review. 61
33479703 2021
16
Response to Reader Comment Regarding "Approach to Chilblains During the COVID-19 Pandemic". 61
33624518 2021
17
Reader Comment Regarding "Approach to Chilblains During the COVID-19 Pandemic". 61
33624512 2021
18
Emerging Evidence of the Direct Association Between COVID-19 and Chilblains. 61
33355601 2021
19
Emerging Evidence of the Direct Association Between COVID-19 And Chilblains-Reply. 61
33355606 2021
20
Histopathologic Features of Chilblainlike Lesions Developing in the Setting of the Coronavirus Disease 2019 (COVID-19) Pandemic. 61
33501498 2021
21
The Influence of Media Coverage and Governmental Policies on Google Queries Related to COVID-19 Cutaneous Symptoms: Infodemiology Study. 61
33513563 2021
22
Why are chilblains underreported in Nordic countries during the COVID-19 pandemic? An analysis of Google Trends. 61
33010073 2021
23
Skin manifestations in COVID-19 patients, state of the art. A systematic review. 61
33533036 2021
24
Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features. 61
33307271 2021
25
Coronavirus (COVID-19) Infection-Induced Chilblains: A Brisk Perieccrine Inflammatory Response. 61
32618705 2021
26
Cutaneous manifestations of COVID-19 in Mexican patients: A case series and review of literature. 61
33747514 2021
27
Cutaneous manifestations of COVID-19. 61
33560783 2021
28
Novel formulation development from Ophiocordyceps sinensis (Berk.) for management of high-altitude maladies. 61
33442508 2021
29
Chilblains and COVID-19: can recent epidemiological data shed light on the aetiological debate? 61
33522016 2021
30
Presentation and Management of Cutaneous Manifestations of COVID-19. 61
33400417 2021
31
Chilblains and COVID-19: further evidence against a causal association. 61
32866323 2021
32
Cutaneous manifestations in Moyamoya angiopathy: A review. 61
33486780 2021
33
Orthopaedic Application of Cryotherapy: A Comprehensive Review of the History, Basic Science, Methods, and Clinical Effectiveness. 61
33512971 2021
34
Unilateral perniosis (chilblains) following hip arthroplasty. 61
33426255 2021
35
Systemic inflammation and chronic kidney disease in a patient due to the RNASEH2B defect. 61
33482855 2021
36
Discordant anti-SARS-CoV-2 spike protein and RNA staining in cutaneous perniotic lesions suggests endothelial deposition of cleaved spike protein. 61
32895985 2021
37
The differing pathophysiologies that underlie COVID-19-associated perniosis and thrombotic retiform purpura: a case series. 61
32779733 2021
38
COVID toes: where do we stand with the current evidence? 61
33075530 2021
39
Suspected COVID-19-related reticulated purpura of the soles in an infant. 61
33085141 2021
40
Chilblains-like lesions and SARS-CoV-2 in children: An overview in therapeutic approach. 61
33141476 2021
41
Pernio (Chilblains), SARS-CoV-2, and COVID Toes Unified Through Cutaneous and Systemic Mechanisms. 61
33714595 2021
42
Skin Manifestations During the COVID-19 Pandemic in the Pediatric Emergency Department. 61
33278056 2020
43
Negative tests for SARS-CoV-2 infection do not rule out its responsibility for chilblains. 61
32790069 2020
44
Negative tests for SARS-CoV-2 infection do not rule out its responsibility for chilblains: reply from the authors. 61
32790922 2020
45
Chilblains and COVID-19: why SARS-CoV-2 endothelial infection is questioned. Reply from the authors. 61
32798316 2020
46
Chilblains and COVID-19: why SARS-CoV-2 endothelial infection is questioned. 61
32798309 2020
47
Treatment of COVID-19 induced chilblains with topical nitroglycerin. 61
33084032 2020
48
High prevalence of cryofibrinogenemia in patients with chilblains during the COVID-19 outbreak. 61
33070314 2020
49
Evaluation of SARS-CoV-2 antibodies in 24 patients presenting with chilblains-like lesions during the COVID-19 pandemic. 61
32822790 2020
50
Cutaneous manifestations of COVID-19: a systematic review and analysis of individual patient-level data. 61
33423412 2020

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
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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