In a family without trex1 or samhd1 mutation, we sought to determine the causative gene and the underlying disease pathology. These lesions generally appear on the nose, ears, fingers, hands, and calves of the patient. The histology of equestrian perniosis is similar to perniosis. Chilblain lupus erythematosus chle is a rare, acrolocalized lupus erythematosus le subset characterized by erythematous skin lesions resembling frostbite. The phenotype is induced by cold, such that patients frequently report a worsening of lesions in the winter months summary by ravenscroft et al.
Ages at onset of chilblain lupus erythematosus varied from 26 to 73 years, with a femaletomale ratio of 3. A set of diagnostic criteria 1 have been proposed by the mayo clinic after studying a small number of patients with chilblain lupus erythematosus. We focused on the incidence of an underlying connective tissue disease, mostly lupus erythematosus le, and we analyzed features of idiopathic chilblains compared with those of chilblain lesions associated with connective tissue disease. Chilblain, an inflammatory swelling of the skin of the hands or feet, resulting from exposure to cold. Lupus erythematosus le is an autoimmune connective tissue disease whose precise aetiological basis is at present uncertain, in which the clinical presentations range from a skin rash unaccompanied by extracutaneous stigmata to one comprising progressive multisystem disease. There is a paucity of literature concerning patients with chle, with the last cohort reported over 15 years ago. The characteristic feature is lymphocytic perivascular.
Lupus an autoimmune connective tissue disease is the most common autoimmune disorder associated with chilblains. Lupus erythematosus tumidus let is a rarely diagnosed condition that was first described in 1909 by hoffmann. When the sores start to heal the pain is replaced with intense itching. The lesions are brought on or exacerbated by cold and moisture. Chilblain lupus may represent an overlap of pernio and lupus, but in time, many patients with chilblain lupus develop features both clinically and histologically of. Sporadic cases and two families with autosomal dominantinherited chle have been reported. Clinical and histopathologic features and immunologic variables in patients with severe chilblains. The perieccrine tropism seems to be a specific characteristic of idiopathic chilblain and is not observed in lupus chilblains 26. A study of the relationship to lupus erythematosus. The latter can be seen in a pernio distribution, mostly nose, ear and cheeks, but is not specifically precipitated by cold. Chilblain lupus is a cutaneous form of systemic lupus erythematosus sle. Chilblain lupus erythematosus in an adolescent girl. Chilblain lupus erythematosus with depigmentation is a rare presentation of lupus erythematosus that may simulate vitiligo. In familial chle, two missense mutations in trex1 encoding the 3.
Khaitan b k, sood a, mittal r, singh y l, singh m k. Methods exome sequencing was used for disease gene. Histopathology revealed follicular keratosis, atrophy and extensive liquefaction of basal cells. While people with discoid lupus usually experience a rash on their face and. Chilblain lupus erythematosus presenting with bilateral. Chilblain lupus erythematosus lesions may be clinically indistinguishable from simple chilblains or pernio due to exposure to cold air see above, which is seen in healthy individuals.
Chilblain lupus is a rare cutaneous form of systemic lupus erythematosus sle. It is extremely painful and i wanted to cut my toes off. Two cases of chilblain lupus erythematosus cle were seen in females aged 33 years and 18 years. A number of patients affected by cl eventually develop features of systemic lupus erythematosus sle. The main difference with the cutaneous variety of sarcoidosis is the histopathologic study findings. Chilblain lupus erythematosus mimicking acrofacial vitiligo. We investigated 33 patients affected with chilblain lesions following a persisting course of more than 1 month. The term discoid refers to a rash of distinct reddened patches covered with. Lupus erythematosus le is an autoimmune disorder resulting from an interplay of genetic, environmental, and hormonal elements with a heterogeneous clinical expression extending from a localized cutaneous form to a lifethreatening systemic form. Chilblain lupus erythematosus mittal r r, gill s s, jot t. In many respects, it may be regarded as a model autoimmune disease due to its spectrum of autoimmune antibodies and involvement of different organ systems, as well as respon.
In patients with lupus pernio, we observe granulomas without caseous necrosis but with few inflammatory infiltrates on the periphery. Jun 10, 2008 chilblain lupus erythematosus chle is a rare, chronic form of cutaneous lupus erythematosus. Objectives familial chilblain lupus is a monogenic form of cutaneous lupus erythematosus caused by lossoffunction mutations in the nucleases trex1 or samhd1. In chilblain lupus a form of chronic cutaneous lupus, the lesions may be very similar to pernio but the histopathology is consistent with changes of discoid lupus. Recent advances in our understanding of the pathophysiological basis of le bring hope for novel therapeutic approaches.
It is not associated with systemic and autoimmune connective tissue disease. Idiopathic chilblains have similar findings on histology to chilblain lupus erythematosus, however, there is an absence of fibrin deposition on immunofluorescence. Chilblain lupus erythematosus in an adult male learning points chilblain lupus erythematosus should be suspected when any patient presents with violaceous, acral skin lesions that are exacerbated by cold weather and are associated. Cutaneous histopathological findings of aicardigoutires syndrome, overlap with chilblain lupus article in journal of cutaneous pathology 358. Pernio the differential diagnosis of pernio includes other coldin duced syndromes such as raynauds syndrome, cold panniculitis, cold urticaria, livedo reticularis, acrocyanosis. Until now, the skin findings reported in association with coronavirus disease 2019 covid19 infection remain sparse, nonspecific, and devoid of any prognostic significance. Cutaneous histopathological findings of aicardigoutires. Chilblain lupus may represent an overlap of pernio and lupus, but in time, many patients with chilblain lupus develop features both clinically and histologically of discoid lupus.
Lupus erythematosus, also called lupus, an autoimmune disorder that causes chronic inflammation in various parts of the body. The perieccrine tropism seems to be a specific characteristic of idiopathic chilblain and is not observed in lupuschilblains. What are the signs and symptoms of chilblain lupus. Chilblain lupus erythematosus most commonly presents sporadically. Specifically, the authors expressed concern that chilblain lupus. Familial chilblain lupus what can we learn from type i. Discoid lupus erythematosus is a subphenotype of chronic cutaneous lupus erythematosus, characterised by scaly diskshaped plaques which may be localised or widespread, occurring predominantly on sunexposed skin. Photosensitivity, chronicity and aggravation in winters were present in both cases. The nodules or plaques of chilblain lupus erythematosus appear most prominent over the dorsal joints of the. Chilblain lupus erythematosus hutchinson a clinical and.
If that happens, you may develop ulcers and infections. Pathology of chilblains perniosis and equestrian perniosis. Although the term is frequently used alone to designate lupus vulgaris and sometimes lupus erythematosus, without a modifier it has no meaning. Distinction of chilblain lupus erythematosus cle from idiopathic perniosis ip could predict an underlying connective tissue disease. Chilblains or perniosis is an acrally located cutaneous eruption that occurs with exposure to cold. Clinical picture, diagnosis and treatment summary lupus erythematosus le is an important dermatologic autoimmune disease. It is characterised by purple plaquesnodules and oedematous skin mainly around the acral regions of the body, which are most exposed to the cold. Chilblain lupus erythematosus may be diagnosed based on clinical presentation and histopathological examination or direct immunofluorescence study.
Lupus profundus is a rare manifestation of cutaneous lupus erythematosus, seen in 1% to 3% of patients. We report here 9 patients with chilblain cutaneous lesions, 6 of them were affected. From the age of 4 years, the 46yearold white mother experienced recurrent lesions, particularly prominent over the winter months, affecting her hands, feet, buttocks, and thighs. Neil crowson1 and unaccompanied by extracutaneous stigmata to a rapidly progressive cynthia magro2 lethal multiorgan disease. It most commonly presents in association with classic chronic cutaneous lesions of discoid lupus erythematosus. Below are some pictures of my feet with chilblains sores. Redpurple patches on the finger end joints that are precipitated by cold, damp climates. Chilblain lupus erythematosus definition of chilblain. Chilblain lupus erythematosus chle is a rare, chronic form of cutaneous lupus erythematosus. These lesions are violaceous papules and under dermoscopy show an apple jelly color.
Childhood chilblain lupus erythematosus eui hyun oh1, jaebum jun2, joo yeon ko1 departments of 1dermatology and 2internal medicine, hanyang university college of medicine, seoul, korea chilblain lupus erythematosus cle is a rare form of cutaneous lupus erythematosus le and diagnosed by chilblain like skin lesions in acral locations induced by. Chilblain lupus erythematosus is a rare form of chronic cutaneous lupus erythematosus. Discoid lupus affects only the skin and does not usually involve internal organs. The secondary form is associated with an underlying condition such. Chilblain lupus erythematosus is a rare manifestation of chronic cutaneous lupus erythematosus, first reported by hutchinson in 1888. Nov 27, 20 chilblain lupus erythematosus may be diagnosed based on clinical presentation and histopathological examination or direct immunofluorescence study. Werth, in dubois lupus erythematosus and related syndromes ninth edition, 2019. Discoid lupus, or cutaneous lupus, is a type of lupus that only affects the skin. Pathology of discoid lupus erythematosus dr sampurna roy md. The two forms of chle are described familial and sporadic. Additionally, diagnostic criteria for chle are not welldefined.
In this paper we report a case of chilblain lupus erythematosus that was diagnosed using the mayo clinic diagnostic criteria. Chilblain lupus erythematosus is a chronic, unremitting form of lupus erythematosus with the fingertips, rims of ears, calves, and heels affected, especially in women. Chilblain lupus erythematosus cl of hutchinson is a subtype of lupus erythematosus le characterized by erythematous lesions induced by cold, damp climates. With its name derived from similarities to chilblains perniones, these painful, bluishred acral manifestations usually do not pose major diagnostic difficulties, with differential diagnoses including true perniones, lupus pernio sarcoidosis, and ischemia. Affected individuals present with painful bluishred papular or nodular lesions of the skin in acral locations precipitated by cold and wet exposure. The main characteristics of chilblain lupus erythematosus are blue or red nodules and lesions.
Chilblain le consists of red or dusky purple papules and plaques on the toes. A 52yearold lady with such a manifestaiton is being reported. Chilblain lupus definition of chilblain lupus by medical. However, when patients present with isolated chilblain lesions, the. Besides being painful, infections are potentially lifethreatening if left untreated. Specifically, the authors expressed concern that chilblain lupus could be confused with lupus pernio. Chilblain lupus erythematosus chle is a rare form of chronic cutaneous lupus characterized by lesions in an acral distribution exacerbated by exposure to cold. Chilblain lupus erythematosus in an adult male learning points chilblain lupus erythematosus should be suspected when any patient presents with violaceous, acral skin lesions that are exacerbated by cold weather and are associated with other nonspecific systemic symptoms. The condition is believed to result from cold hypersensitivity of small vessels of the skin. In perniosis, sections show acral skin with a dense superficial and deep lymphocytic infiltrate figure 1. Now known as lp, it is an uncommon variant of le that develops in 1% to 3% of patients with cutaneous le. Chilblains can be classified into primary and secondary forms.
Chilblains may cause complications if your skin blisters. Histopathologic features and immunohistochemistry for cd123 and cd30 wang, michael, l. Blistering and ulceration may occur histology of perniosis. Chilblain lupus or lupus pernio hutchinson differs from lupus pernio besnier, which is caused by sarcoidosis. Perniosis or chillblains are a localised form of vasculitis presenting with reddish purple bumps in reaction to cold exposure. Chilblain lupus erythematosus is a chronic form of lupus erythematosus seen especially in women, affecting the fingertips, rims of ears, calves, and heels 7. The secondary form is associated with an underlying condition such as connective tissue disease. Equestrian perniosis is a rare condition in which the patient develops tender, burning, nodular plaques on both thighs and buttocks after riding in the cold. Chilblain lupus erythematosus also effects the skin, but in a different way.
In contrast to other le subsets, chle is refractory to conventional therapies. Recent advances in our understanding of the pathophysiological basis of le bring. Chilblain lupus is a typical, albeit rare, form of chronic cutaneous lupus erythematosus. Exposure to cold climate can produce a wide range of injuries as a result of inability to adapt to the low temperature. 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. Sep 16, 20 chilblain lupus is a typical, albeit rare, form of chronic cutaneous lupus erythematosus. One variant is known as chilblain lupus, and it falls under the discoid lupus erythematosus classification. It occurs commonly on the digits, calves and heels. Chilblains perniosis is a localized disease occurring after prolonged exposure to moderate to cold temperature perniosis presents as inflammatory, erythematous or purple, intensely pruritic or painful conditions on the hands and feet. Comparative analysis of chilblain lupus erythematosus and idiopathic perniosis. There are several mutations that can lead to this autosomal dominant disease. Chronic facial discoid le usually appears before the chilblain form but, in most instances, resolves even though the chilblain lesions persist. Feb 20, 2020 viguier m, pinquier l, cavelierballoy b, et al.
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