Chilblain Lupus Erythematosus

NewsBot · Sep 16, 2013

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Chilblain Lupus Erythematosus
Min Ae Lee-Kirsch M.D., Martin Aringer M.D., Annegret Kuhn M.D.
Skin Manifestations in Rheumatic Disease 2014, pp 13-19

Chilblain lupus is a typical, albeit rare, form of chronic cutaneous lupus erythematosus. With its name derived from similarities to chilblains (perniones), these painful, bluish-red acral manifestations usually do not pose major diagnostic difficulties, with differential diagnoses including true perniones, lupus pernio (sarcoidosis), and ischemia. However, recent findings, linking familial chilblain lupus to TREX1, and thus the innate immune system, have had significant impact on our understanding of the disease. Therefore, this chapter will not only review the clinical side, but also our current understanding of the pathogenic events preceding disease.
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Admin2 · Sep 17, 2013

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NewsBot · Dec 3, 2013

CASE REPORT
Chilblain lupus erythematosus
Sapna Patel, Faddy Hardo
BMJ Case Reports 2013; doi:10.1136/bcr-2013-201165

Chilblain lupus erythematosus is a rare form of chronic cutaneous lupus erythematosus. It is characterised by purple plaques/nodules and oedematous skin mainly around the acral regions of the body, which are most exposed to the cold. In this paper we report a case of chilblain lupus erythematosus that was diagnosed using the Mayo Clinic Diagnostic Criteria and its successful treatment with hydroxychloroquine.
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NewsBot · Sep 8, 2015

Childhood Chilblain Lupus Erythematosus
Eui Hyun Oh, Jae-Bum Jun and Joo Yeon Ko
J Rheum Dis. 2015 Aug;22(4):269-270. (full text free)

NewsBot · Mar 25, 2017

A case of chilblain lupus erythematosus with lupus erythematosus/lichen planus overlap syndrome
Takaya Komori, et al
Journal of the European Academy of Dermatology and Venereology

Chilblain lupus erythematosus (CHLE) is an acral erythema with cutaneous lesion of lupus erythematosus (LE) that is exacerbated during the winter (1). LE/lichen planus (LP) overlap syndrome is a rare cutaneous disorder characterized by mixed histological features of LE and LP at the same lesion (2). Although both CHLE and LE/LP overlap syndrome are immune mediated diseases (3), there is no indication that the same lymphocyte subset induces two distinct cutaneous lesions.
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NewsBot · Aug 31, 2017

Familial Chilblain Lupus - What Can We Learn from Type I Interferonopathies?
Christoph Fiehn
Current Rheumatology Reports; October 2017, 19:61

Purpose of Review
Familial chilblain lupus belongs to the group of type I interferonopathies and is characterized by typical skin manifestations and acral ischaemia. This review aims to give an overview of clinical signs and the pathophysiological mechanisms.

Recent Findings
There are several mutations that can lead to this autosomal dominant disease. Most frequent is a mutation of the gene for TREX-1. However, as well cases of families with mutations in the SAMHD1 gene and, recently, with one for the gene that codes for the protein stimulator of interferon genes have been described. These genes are involved in the process of the detection of intracellular DNA, and their mutation results in an increased production of type I interferons and their gene products, resulting in auto-inflammation and auto-immunity. JAK inhibitors have been successfully used to treat this disorder.

Summary
Familial chilblain is a rare disorder with very distinct clinical signs. Its pathophysiological mechanism gives insight into the process of interferon-induced inflammation in auto-immune diseases.
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NewsBot · Feb 2, 2020

A Case Report of Chilblain Lupus Erythematosus in a Young Male with Literature Review
Azib Shahid, Fatima Iftikhar, Katherine Glaser, Anthony Fernandez
Source

Chilblain lupus erythematosus (CHLE), also known as Hutchinson lupus, is rare form of chronic cutaneous lupus erythematosus. The diagnosis is made in patients with clinical findings of chilblains in conjunction with the clinical or laboratory features of cutaneous or systemic lupus erythematosus (SLE). Similar to idiopathic chilblains (or perniosis), CHLE presents with tender, reddish-blue papules, nodules, or plaques on the toes, fingers, nose, or ears which are precipitated by cold exposure. There is a variation in lab findings that become positive in these patients ranging from a positive Antinuclear antibody (ANA), Rheumatoid factor (RF), SSA/Ro autoantibodies. Anemia, hypocomplementemia, other autoantibodies and elevated ESR have also been described in numerous patients Sporadic disease commonly affects middle-aged women whilst familial disease manifests in childhood. We report herein, a case of CHLE in a young male with no family history of lupus and a negative ANA on initial evaluation. There is little in the published literature on CHLE. This case report serves to revisit the diagnosis of CHLE and review the existing literature. Clinicians should understand the importance of early diagnosis and prompt treatment initiation in order to reduce associated morbidity and possible disfigurement.
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NewsBot · Apr 20, 2020

Familial chilblain lupus due to a novel mutation in TREX1 associated with Aicardi–Goutie’res syndrome
Cuili Yi, Qiyuan Li & Jihong Xiao
Pediatric Rheumatology volume 18, Article number: 32 (2020)

Background
Familial chilblain lupus (FCL) is a rare, chronic form of cutaneous lupus erythematosus, which is characterized by painful bluish-red inflammatory cutaneous lesions in acral locations. Mutations in TREX1, SAMHD1 and STING have been described in FCL patients. Less than 10 TREX1 mutation positive FCL families have been described in the literature.

Case presentation
Genetic study was performed in a large, nonconsanguineous Chinese family with 13 members over 4 generations affected by chilblain lupus. Whole exome sequencing was performed for the index patient. Significant variant detection was subsequently validated by resequencing using Sanger sequencing in the index patient and other family members. A novel pathogenic mutation TREX1 p.Asp18His was iditified in the index patient. The mutation was present in affected individuals and was absent in non-affected individuals in the familiy.

Conclusions
We present a four-generation Chinese family with FCL caused by a novel heterozygous mutation TREX1 p.Asp18His, which had been reported in a patient with Aicardi–Goutie’res syndrome. This is the first reported Chinese family with FCL based on mutation in TREX1.
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NewsBot · Jun 30, 2021

Postsurgical Appearance of Chilblains Lupus Erythematosus
Haley M.FultonBS, David B.FultonMD
Journal of Hand Surgery Global Online; 22 June 2021

Chilblain lupus erythematosus is a rare form of chronic cutaneous lupus erythematosus that presents as pruritic and painful cutaneous lesions. The lesions follow a relapsing and remitting pattern and are often located on the dorsal surfaces of the hands or feet. Its treatment is supportive in nature, and the lesions often recur. In this case report, we describe the course of a patient, with no history of any form of lupus, who developed chilblains lupus localized over the incision site after undergoing hand surgery. We discuss the differential and incorrect diagnoses made before determining the proper diagnosis of chilblains.
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NewsBot · Apr 11, 2022

Chilblains in immune mediated inflammatory diseases: a review
Caroline Gordon, Shirish Dubey, Nilay Joshi, Olivia Stevenson, John Reynolds
Source

Chilblains were first described over a hundred years ago as cutaneous inflammatory lesions, typically on the digits, occurring on cold exposure. Chilblains can be primary, or secondary to number of conditions such as infections, including COVID-19, and immune mediated inflammatory disorders (IMIDs) with systemic lupus erythematosus (SLE) being the commonest. Chilblain Lupus Erythematosus (CHLE) was first described in 1888 as cold induced erythematous lesions before the terms ‘chilblains’ or ‘perniosis’ were coined. Diagnostic criteria exist for both chilblains and CHLE. Histopathologically, CHLE lesions show interface dermatitis with perivascular lymphocytic infiltrate. Immunofluorescence demonstrates linear deposits of immunoglobulins and complement in the dermo-epidermal junction. This narrative review focuses on chilblains secondary to immune mediated inflammatory disorders, primarily the epidemiology, pathogenesis and treatment of CHLE.
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NewsBot · Jul 30, 2022

Chilblain lupus with nail involvement: a case report
María Margarit et al
Revista Colombiana de Reumatología (English Edition) 27 July 2022

Chilblain lupus is a rarely manifested variant of chronic lupus. Its appearance can be sporadic or hereditary associated with an autosomal dominant mutation. The diagnosis is clinical and histopathological. The case is presented of a patient with systemic lupus erythematosus presenting with chilblain lupus and nail involvement, despite the use of antimalarials and immunomodulators.
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NewsBot · Jan 23, 2023

Lupus pernio vs. lupic perniosis: A case report
Source

Introduction: Systemic lupus erythematosus (SLE) is an autoimmune disease that is difficult to diagnose due to the wide array of signs and symptoms it displays that may be associated to multiple clinical conditions, including perniosis (a rare inflammatory condition), lupus pernio (a manifestation of sarcoidosis), and lupus perniosis (a form of SLE), which can be easily mistaken.

Case description: A 29-year-old Colombian mestizo woman with no family history of autoimmune, inflammatory or cutaneous diseases was diagnosed with SLE after ruling out several differential diagnoses. Although the patient presented with features of lupus pernioticus (lupus perniosis), it was established that she had lupus pernio, a type of sarcoidosis. The patient was given the indicated treatment, which led to an improvement in her quality of life.

Conclusion: Based on the epidemiology, clinical history and histopathologic findings, it was possible to establish that the patient presented with lupus perniosis and not lupus pernio. In that regard, considering that these three conditions (perniosis, lupus pernio and lupic perniosis) can be easily confused, the present case highlights the importance of a thorough clinical evaluation and precise use of diagnostic terms, because these are three different conditions despite their similar names.
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NewsBot · Jul 18, 2023

Chilblain lupus erythematosus associated with systemic lupus erythematosus: A classic diagnosis in a current epidemiological context
Garcia, R. A.; Palacios, M. M.; Penades, I. C.; Corai, V. B..
Pediatric Dermatology ; 40(Supplement 2):20-21, 2023.

Chilblain lupus erythematosus (LE) is a rare chronic cutaneous lupus erythematosus (CCLE) characterized by the appearance of violaceous plaques in acral regions most exposed to cold. The isolated form affects middle-aged women, while the familial form manifests in early childhood and is associated with mutations in the TREX1 gene. Result(s) A 13-year-old adolescent, with no relevant family history, was referred in March 2021 for suspected chilblain-like lesions associated with COVID-19 infection. The patient presented with multiple violaceous papules on hands and feet. The lesions were slightly painful. Small hyperkeratotic papules were also observed on finger pads. Physical examination also revealed some aphthae affecting the lips. No other systemic symptoms were reported. A skin biopsy and blood tests were performed due to presumed chilblain LE with probable systemic involvement. Histology revealed basal vacuolar damage and intense perivascular and periadnexal lymphocytic inflammatory dermal infiltrate. Remarkably, mucin was noted among the collagen bundles. Leukopenia and positive ANA antibodies (titre 1320) were detected. Complement levels were normal. SARS-CoV2 infection was ruled out. Skin lesions disappeared within 1 month under topical corticosteroids. Hydroxychloroquine was afterwards started by Rheumatology without recurrence of skin symptoms until last follow-up. Discussion(s) We present an uncommon case of an adolescent with systemic LE presenting as chilblain LE. Chilblain LE can be accompanied by other discoid CCLE. It can progress to systemic LE in up to 20% of patients, especially when concomitant CCLE is present. This rare presentation of CCLE should be differentiated from typical chilblain and other resembling lesions, such as SARS-CoV2-associated chilblain and acral purpuric lesions (COVID toes). The Mayo Clinic diagnostic criteria can be helpful, particularly in this last SARS-CoV2 outbreak scenario, when the reporting of similar skin lesions has been significant.
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NewsBot · Aug 14, 2023

CHILBLAIN LUPUS ERYTHEMATOSUS-A RARE
ENCOUNTER
Mohamed Shafi Mahboob Ali. Medical Department, Universiti Sains Malaysia(USM),
Malaysia
10.1136/lupus-2023-KCR.177

Description Chilblain lupus erythematosus(CHLE) or Perniosis
is a rare and chronic form of lupus involving the toes, fingers,
nose, and ears precipitated by cold exposure. The prevalence
is 3–20%, affecting mostly women and can be divided into
primary and secondary. The primary or idiopathic form is not
associated with an underlying disease, while the secondary
form is associated with an underlying condition such as connective tissue disease, monoclonal gammopathy, cryoglobulinemia, or chronic myelomonocytic leukaemia. It is often
associated with other forms of cutaneous lupus, and about
20% of patients develop systemic lupus erythematosus(SLE).
The patient usually comes with symptoms of purple plaques
or nodules and oedematous skin, mainly around the acral
regions of the body. Histologic features are identical to those
of discoid lupus erythematosus. The damaged skin gives a Positive fluorescent band test picture. CHLE is defined by the
Mayo Clinic criteria, which include two major and four
minor. Diagnosing a patient requires two major and at least
one minor criterion. Patients with chilblain lupus erythematosus may also display hypergammaglobulinaemia, positive rheumatoid factor, antinuclear antibody, antiphospholipid or antiRo antibodies. They are usually negative for anti-doublestranded DNA antibodies. The first-line treatment for mild
and localised symptoms is topical corticosteroids. Second-line
systemic treatments consist mainly of immunomodulators and
immunosuppressants. Studies have shown benefits from the
use of topical tacrolimus and pimecrolimus. We want to
report a case of a young lady that presented to our centre
with CHLE.
Conclusions Chilblain lupus erythematosus is a rare and
chronic disease mainly affecting women. Although it is not as
severe as Systemic Lupus Erythematosus(SLE), it may be the
sentinel sign of a range of underlying auto-immune diseases.
Physicians should be vigilant in dealing with CHLE as their
symptoms may be subtle and mimic other similar pathologies.
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NewsBot · Sep 5, 2023

Targetoid‐like lesions and chilblain‐like erythema manifested on hands and feet: A case of Rowell syndrome from China
Yanqiao Li, et al
Immun Inflamm Dis. 2023 Aug; 11(8): e979.

Background: Rowell syndrome (RS) is an uncommon condition characterized by erythema multiforme (EM)‐like lesions and lupus erythematosus. It is more common in females, and EM may be the first manifestation of the disease with positive autoantibodies, such as antinuclear antibody (ANA), SSA, SSB and rheumatoid factor. The pathogenesis of RS is unknown and is likely caused by drug induction, ultraviolet exposure and infection. Method: We describe a case of RS from China which presented as characteristic targetoid‐like lesions and chilblain‐like erythema on hands and feet. This is a case of RS in a female patient from the inpatient department of dermatology. Results: A 41‐year‐old female with systemic lupus erythematosus exhibited chilblain‐like erythema and characteristic EM lesions on her extremities. She tested positive for serum ANA (1:320) and anti‐double‐stranded DNA, as well as other autoantibodies. Systemic glucocorticoids and hydroxychloroquine worked effectively for her. Conclusion: The present case met diagnostic criteria of RS. Notably, there was a co‑occurrence of facial butterfly erythema, chilblain‐like erythema and EM lesions distributed on the limbs in this case.
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NewsBot · Mar 4, 2024

Efficacy of alprostadil in chilblain lupus erythematosus

NewsBot · Mar 5, 2024

Case Report: Chilblain Lupus Masquerading as Tinea Pedis
Sarah A et al
7 January 2023

Chilblain lupus erythematosus is a condition that is frequently misdiagnosed. Our case report describes a young male from the Middle East who underwent a skin biopsy that revealed the diagnosis of chilblain lupus erythematosus after multiple incorrect diagnoses, emphasizing the importance of skin biopsy in establishing the correct diagnosis and avoiding unnecessary treatment.
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