MCID: PRN035
MIFTS: 28

Perniosis

Categories: Blood diseases, Rare diseases, Skin diseases

Aliases & Classifications for Perniosis

MalaCards integrated aliases for Perniosis:

Name: Perniosis 52
Chilblains 52 36 71 32
Cold-Induced Painful or Pruritic Erythematous or Violaceous Acral Papular or Nodular Lesions 52
Idiopathic Perniosis 52
Pernio 52

Classifications:



External Ids:

KEGG 36 H01643
ICD10 32 T69.1
UMLS 71 C0008058

Summaries for Perniosis

NIH Rare Diseases : 52 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 drugs Ginkgo and interferons have been mentioned in the context of this disorder. Affiliated tissues include skin, bone marrow and bone.

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 : 74 Chilblains, also known as pernio and chill burns are a medical condition that occurs when a predisposed... more...

Related Diseases for Perniosis

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

(show top 50) (show all 131)
# 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 11.5
5 encephalopathy 11.5
6 proteasome-associated autoinflammatory syndrome 1 11.3
7 pseudo-torch syndrome 1 11.2
8 aicardi-goutieres syndrome 3 11.2
9 singleton-merten syndrome 11.2
10 sarcoidosis 1 10.7
11 skin sarcoidosis 10.5
12 panniculitis 10.4
13 systemic lupus erythematosus 10.3
14 exanthem 10.3
15 lupus erythematosus 10.3
16 chilblain lupus 1 10.2
17 purpura 10.2
18 rheumatoid arthritis 10.2
19 arthritis 10.2
20 erythrokeratoderma ''en cocardes'' 10.2
21 discoid lupus erythematosus 10.2
22 autoimmune disease 10.2
23 cutaneous lupus erythematosus 10.2
24 covid-19 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 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
31 leukemia 10.1
32 pancytopenia 10.1
33 thrombocytopenia 10.1
34 lymphopenia 10.1
35 ige responsiveness, atopic 10.0
36 leukemia, chronic lymphocytic 10.0
37 raynaud disease 10.0
38 vasculitis, lymphocytic, nodular 10.0
39 lymphoma, hodgkin, classic 10.0
40 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.0
41 lymphoma, non-hodgkin, familial 10.0
42 anorexia nervosa 10.0
43 erythema multiforme 10.0
44 lymphoma 10.0
45 colitis 10.0
46 tinea corporis 10.0
47 neutropenia 10.0
48 iritis 10.0
49 keratosis 10.0
50 viral hepatitis 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
2 interferons
3 Interferon-alpha

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
3 Acral Cutaneous Thrombotic Vasculopathy and Covid-19 Infection: Search for Acquired Thrombophilia and Interferon-alpha Signature Recruiting NCT04361786
4 Assessment of Skin Manifestations Occuring During Covid-19 Infection With a Special Focus on Chilbains Recruiting NCT04344119
5 Analysis of Chilblains Profile During COVID-19 Epidemic Not yet recruiting NCT04387955

Search NIH Clinical Center for Perniosis

Genetic Tests for Perniosis

Anatomical Context for Perniosis

MalaCards organs/tissues related to Perniosis:

40
Skin, Bone Marrow, Bone, Neutrophil, Liver, Breast, Endothelial

Publications for Perniosis

Articles related to Perniosis:

(show top 50) (show all 286)
# Title Authors PMID Year
1
Chilblains and COVID19 infection: Causality or coincidence? How to proceed? 61
32571563 2020
2
SARS-CoV-2 endothelial infection causes COVID-19 chilblains: histopathological, immunohistochemical and ultraestructural study of 7 paediatric cases. 61
32562567 2020
3
Histopathological Study of a Broad Spectrum of Skin Dermatoses in Patients Affected or Highly Suspected of Infection by COVID-19 in the Northern Part of Italy: Analysis of the Many Faces of the Viral-Induced Skin Diseases in Previous and New Reported Cases. 61
32576730 2020
4
Rash as a presenting complaint in a child with COVID-19. 61
32524630 2020
5
Pitfalls of possible reporting of same patients with COVID-19 in dermatology journals. 61
32490552 2020
6
Chilblains-like dermatologic manifestation of COVID-19 diagnosed by serology via multidisciplinary virtual care. 61
32496578 2020
7
Chilblains in children in the time of Covid-19: new evidence with serology assay. 61
32533607 2020
8
Understanding the role that 'COVID toe' has in recognizing the potential extent of COVID-19 infections: a case study. 61
32576095 2020
9
CHILBLAIN-LIKE ACRAL LESIONS DURING THE COVID-19 PANDEMIC ("COVID TOES"): HISTOLOGIC, IMMUNOFLUORESCENCE AND IMMUNOHISTOCHEMICAL STUDY OF 17 CASES. 61
32502585 2020
10
Major cluster of pediatric " true " primary chilblains during the COVID-19 pandemic: a consequence of lifestyle changes due to lockdown. 61
32533899 2020
11
A clinical, histopathological and laboratory study of 19 consecutive Italian paediatric patients with chilblain-like lesions: lights and shadows on the relationship with COVID-19 infection. 61
32474947 2020
12
Effect of Calcium-Channel Blockade on the Cold-Induced Vasodilation Response. 61
32482519 2020
13
Chilblains is a common cutaneous finding during the COVID-19 pandemic: A retrospective nationwide study from France. 61
32380219 2020
14
Further evidence that chilblains are a cutaneous manifestation of COVID-19 infection. 61
32460349 2020
15
Chilblains-like lesions and COVID-19. 61
32453902 2020
16
Chilblains in children in the setting of COVID-19 pandemic. 61
32386460 2020
17
Comment on 'Two cases of COVID-19 presenting with a clinical picture resembling chilblains: first report from the Middle East': pernio unrelated to COVID-19. 61
32356578 2020
18
Chilblain-like lesions in pediatrics dermatological outpatients during the COVID-19 outbreak. 61
32378284 2020
19
Cutaneous manifestations of the Coronavirus Disease 2019 (COVID-19): A brief review. 61
32383234 2020
20
Clustered Cases of Acral Perniosis: Clinical Features, Histopathology and Relationship to COVID-19. 61
32396999 2020
21
Erythema multiforme-like lesions in children and COVID-19. 61
32445583 2020
22
[Perniosis-like skin lesions during the COVID-19 epidemic]. 61
32418860 2020
23
Coronavirus (COVID-19) infection-induced chilblains: A case report with histopathologic findings. 61
32363225 2020
24
[Chilblains in lockdown: An old acquaintance in the context of COVID-19]. 61
32402775 2020
25
Two cases of COVID-19 presenting with a clinical picture resembling chilblains: first report from the Middle East. 61
32302422 2020
26
Diagnosis of Aicardi-Goutières Syndrome in Adults: A Case Series. 61
32258229 2020
27
Chilblains. 61
31808732 2020
28
A Pediatric Case of Gingival Swelling and Chilblains as Previously Unrecognized Manifestations of Chronic Nonbacterial Osteomyelitis. 61
31972737 2020
29
Investigating the presence of neutrophil extracellular traps in cutaneous lesions of different subtypes of lupus erythematosus. 61
31529548 2019
30
Chilblains in a Patient with Systemic Lupus Erythematosus: Another Manifestation of the Great Masquerader. 61
31713368 2019
31
Development of a UV-Stabilized Topical Formulation of Nifedipine for the Treatment of Raynaud Phenomenon and Chilblains. 61
31717566 2019
32
Posttraumatic unilateral perniosis: A case report. 61
31646162 2019
33
Two cases of perniosis in a free flap and a graft site of the hands. 61
30628107 2019
34
[Two cases of unilateral chilblains associated with monoparesis]. 61
30929875 2019
35
Rowell's Syndrome Triggered by Omeprazole. 61
31351509 2019
36
Efficacy of Baricitinib in the Treatment of Chilblains Associated With Aicardi-Goutières Syndrome, a Type I Interferonopathy. 61
30666809 2019
37
Foot and ankle characteristics in systemic lupus erythematosus: A systematic review and meta-analysis. 61
30093237 2019
38
Ice pack-induced perniosis: a rare and underrecognized association. 61
30566562 2018
39
Dyschromatosis symmetrica hereditaria with chilblains due to a novel two-amino-acid deletion in the double-stranded RNA-binding domain of ADAR1. 61
29775506 2018
40
Chilblains accompanying interleukin-1 receptor-associated kinase (IRAK)-4 deficiency. 61
29779251 2018
41
Recurrent chilblains in a child with neurological impairment. 61
29277929 2018
42
Idiopathic chilblains in myelomonocytic leukemia: not a simple association. 61
29318596 2018
43
Cold-Induced Dermatoses: Case Report and Review of Literature. 61
28984694 2018
44
Comparative Analysis of Chilblain Lupus Erythematosus and Idiopathic Perniosis: Histopathologic Features and Immunohistochemistry for CD123 and CD30. 61
28719438 2018
45
Acral coldness - severely reduced blood flow to fingers and toes. 61
30459032 2018
46
Drug-induced Rowell syndrome, a rare and difficult to manage disease: A case report. 61
29434682 2018
47
[Renaissance medicine and the discovery of the lesser circulation: the role of Michael Servetus (1511-1553)]. 61
29402117 2017
48
A homozygote TREX1 mutation in two siblings with different phenotypes: Chilblains and cerebral vasculitis. 61
28919362 2017
49
Non-Atherosclerotic Vascular Disease in Women. 61
28913687 2017
50
Human urine-based therapeutics in Spain from the early 20th century to the present: a historical literature overview and a present-day case study. 61
28767264 2017

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 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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