Chilblain lupus with nail involvement: a case report

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.

La perniosis lúpica es una variante del lupus crónico que se manifiesta con poca frecuencia, su aparición puede ser esporádica o hereditaria, asociada con una mutación autosómica dominante, en tanto que su diagnóstico es clínico e histopatológico. Se reporta el caso de una mujer con lupus eritematoso sistémico con manifestación de perniosis lúpica y compromiso ungueal, a pesar del uso de antimaláricos e inmunomoduladores.

Cold-associated skin disorders

The human capacity for physiologic adaptation to cold is minimal. A cold environment can be a threat to the skin, leading to a subsequent fall in core body temperature. Many physiologic, behavioral, and environmental factors predispose to the global effects of cold injuries. Physical injuries caused by cold have two forms: systemic forms such as hypothermia and localized forms such as frostbite. Reduced temperature directly damages the tissue, as in frostbite and cold immersion foot. Vasospasm of vessels perfusing the skin induces chilblain, acrocyanosis, and frostbite. The degree of damage caused by cold is related to four factors: temperature, exposure time, wind intensity (temperature sensation), and high altitude.

Monogenic Autoimmune Diseases

Monogenic autoimmune diseases (AD) present as lupus-like clinical manifestations with recurrent fever or various vasculopathies. Recurrent fever with an elevation of acute phase reactants and various skin lesions are similar in monogenic AD and autoinflammatory disease. The molecular pathogenesis of adult systemic erythematosus can be understood through monogenic AD based on gene defects: complement, apoptosis, interferonopathy via nucleic acid sensing, tolerance, rasopathies, and others. Skin vasculopathy with chilblains and livedo reticularis, interstitial lung disease, and panniculitis are common occurrences in type I interferonopathy. Some syndromes have been reported to present with autoimmune inflammation and the general clinical findings, including cerebral calcification. Various clinical manifestations in monogenic AD present in accordance with the gene loss- or gain-of-function mutations involved. The monogenic AD for the early onset of more severe lupus-like symptoms or vasculopathy needs to be considered. Furthermore, clinical trials were conducted via targeted therapy for related molecular pathways, because conventional treatments were not effective in managing monogenic AD.

Perniosis idiopática: reporte de un caso y revisión de la literatura / Chilblains: report of a case and literature review

Pernio (chilblains) is an inflammatory condition classically characterized by localized erythema and swelling of acral sites upon exposure to cool and damp conditions. It is reported a case of a 59-year-old otherwise healthy woman with acute primary perniosis. She had a 3-day history of lesions on the toes brought on by cold, damp weather. On initial presentation, a biopsy sample was taken of a hallux lesion, and the patient was given a trial course of oral pentoxifylline, topical corticoid and nifedipine therapy. Follow-up at 2 weeks showed complete relief of symptoms and the biopsy results confirmed the diagnosis. Pentoxifylline therapy has been shown to be effective and should be considered the standard of care in the treatment of perniosis along with conservative environmental measures.The etiology and pathogenesis of perniosis are reviewed and discussed, as well as differential diagnoses and treatment options. (AU)

I Can Not Wear My Sunglasses: An Unusual Sarcoidosis Presentation / 가정의학회지

A 39-year-old Caucasian man was referred to University Hospital Salamanca from a primary care unit due to the presence of an erythematous violaceous nodule at the superior portion of his nose. Physical examination indicated that the firm, fixed erythematous violaceous nodule measured approximately 2 cm in diameter and was located inferior to a scar on the nasal bridge. Cutaneous involvement in sarcoidosis occurs in 25% of cases. A wide range of clinical presentations of cutaneous sarcoidosis is recognized. Skin lesions are classified as either non-specific, of which erythema nodosum is the most representative and specific, or as granulomatous, which includes maculopapular nodules, plaques, infiltrated scars, lupus pernio, ulcerations, warty lesions and erythroderma. Scar sarcoidosis is a type of cutaneous sarcoidosis.

Childhood Chilblain Lupus Erythematosus

No abstract available.

Chilblains in Turkey: a case-control study

BACKGROUND: Chilblains are rather common in winter months in our country. OBJECTIVES: Determination of demographical and clinical characteristics of patients presenting with chilblains in Diyarbakir, Turkey. Evaluation of body mass index (BMI) as risk factor for development of chilblains. METHODS: Sixty-nine patients who were diagnosed as chilblains at our outpatient clinics were included in this study. No exclusion criteria were sought. Demographical data including height and weight and answers to questions related to personal history were recorded. A control group consisting of 108 controls were chosen from among patients presenting with complaints of hair loss. Statistical analyses were conducted using SPSS 17.0. RESULTS: Of the 69 patients with chilblains, 45 (65.2%) were females and 24 (34.8%) were males. Mean age (±SD) of the patients was 21±9. 71.2% of the patients complained of itching, 51.6% of pain, 31.3% of burning in the lesions. 61.3% of the patients reported recurrence of the lesions every winter season. Mean BMI of the patients was 20.5±2.9. Mean BMI of the controls was 22.4±3.7 and the difference was statistically significant (p=0.01). CONCLUSIONS: Low BMI may be a risk factor contributing to development of chilblains in persons exposed to cold weather conditions. Apart from external factors, there seems to be a personal tendency to develop lesions, as many patients report recurrences every year. Diagnosis of chilblains requires wariness, as history of cold exposure may not be evident. .

Case for diagnosis / Caso para diagnóstico

Chilblains are an inflammatory skin condition that develops following exposure to the cold. They consist of pruritic and/or painful erythematous-to-violaceous acral lesions and are the result of an abnormal vascular response to exposure to the cold. This benign condition is common in southern Brazil, particularly in Rio Grande do Sul where climatic conditions, together with cultural and economic aspects, facilitate the development of these sores.

Eritema pérnio é uma condição inflamatória da pele que ocorre após exposição ao frio e se manifesta com lesões eritêmato-violáceas, pruriginosas e dolorosas nas extremidades. Ocorre devido a uma resposta vascular alterada à exposição ao frio. Esta condição benigna é frequente na região sul do Brasil, especialmente no Rio Grande do Sul, onde as características clínicas, associadas a aspectos culturais e econômicos, promovem o desenvolvimento do eritema pérnio.

Chilblain Lupus Erythematosus: A Case Report and Review of Literature / 대한피부과학회지

Chilblain lupus erythematosus (LE) is a rare, chronic form of cutaneous LE (CLE), which presents mostly in women as erythematous to violaceous plaques on the acral areas and face, precipitated by cold and damp climates. It may be accompanied by discoid LE (DLE) lesions or other forms of CLE. Up to 20% of patients develop systemic LE (SLE). Although two missense mutations in TREX1, encoding the 3'-5' repair exonuclease 1, were described in familial chilblain LE, the pathogenesis of sporadic chilblain LE remains unknown. To our knowledge, there are a few reports of chilblain LE in the Korean dermatologic literature. Herein, we present a rare and interesting case of sporadic chilblain LE in 71-year-old man and review the Korean literatures.

Eritema pérnio na faixa etária pediátrica / Chilblains in pediatrics

Os autores apresentam 5 casos com eritema pérnio da população de 5079 pacientes acompanhados na Unidade de Reumatologia Pediátrica doInstituto da Criança por um período consecutivo de 25 anos. Destes, 4 eram primários e um secundário ao lúpus eritematoso sistêmico juvenil. Todos apresentaram lesões cutâneas com acometimento de extremidades associadas às baixas temperaturas ambientais. O tratamento principal foi orientação de aquecimento das extremidades, utilização de luvas e meias e uso de nifedipina nos casos refratários.

The authors show 5 cases with chilblains from the populations of 5079 patients followed in the Pediatric Rheumatology Unity of the Instituto da Criança for a consecutive a period of 25 years. From these, 4 were primary and one was secondary to juvenile systemic lupus erytematosus. All of them had cutaneous lesions with involvement of extremities, associated at low environmental temperature. The main treatment was the orientation with warming of the extremities, utilization of gloves and socks, and nifedipine in the refractory cases...

Application of Bukuryoingohangekobokuto and Hangekobokuto for Perniosis with Ki Obstruction / 日本東洋医学雑誌

We experienced four cases of perniosis successfully treated with bukuryoingohangekobokuto, or hangekobokuto. Swollen tongue, pulsation at the pit of the navel, and tympanitic abdominal sounds were taken as common objective findings in all four cases. In addition, decreased surface body temperature was diagnosed at the bilateral hands and feet, so as to be distal from the trunk in palpation. These four cases had both symptoms of an eminent Ki obstruction, and a disorder of body fluid metabolism. For the two cases administered bukuryoingohangekobokuto especially, a state of strong Ki deficiency was diagnosed. Efficacy in each case was prompt. Thus, we consider bukuryoingohangekobokuto and hangekobokuto to be prescriptions worth trying for perniosis that does not responding to the usual Western medicines, or Kampo treatment.

Perniosis: clinical and epidemiological study in Iraqi patients

Perniosis [chilblains] is a common skin problem. This condition results from abnormal reaction to cold which is usually seen during the cold months of year. The aim of the present study is to shed a light on different clinical and epidemiological aspects of perniosis in Iraq. A total of 40 patients with perniosis were seen between January to march 2008 in the department of dermatology and venereology of Baghdad Teaching Hospital. A detailed history was taken from each patient regarding age, sex, occupation, duration of attack, family history, smoking, drug history, medical history, relieving and aggrevating factors and previous treatment modality. Full examination was done to each patient to assess the distribution and extent and morphology of the lesions and to see if there other skin diseases. Biopsies was done for 6 patients for histopathological study. A total of 40 patients were assessed. Their ages ranged from 5-60 years with a mean age of 22 SD +/- 6.2, 31 females and 9 males [3.5:1]. Main sites of involvemnt were; toes 39%, fingers 22%, heals 10% and nose 2.5%. Main types of lesions were; erythematous cyanotic swellings 82%, vesicular lesions 23%, ulcerations 10% and erythema multiforme like lesions 15%. Family history was positive in 22.5% of patients. Perniosis occur mainly in females between 10-20 years. Most common sites of involvement are toes and fingers genetic susceptibility is an important factor in the development of the disease. Majority of patients are healthy without any medical or dermatological diseases. Majority are non smokers and did not have any history of drug intake

Clinical Features of Chilblain in Korean Soldiers / 대한피부과학회지

BACKGROUND: Chilblain or pernio is a cold-induced, inflammatory skin problem which occurs usually on acral areas bilaterally. Because chilblain commonly develops in cold, damp climates, many soldiers may experience occupational chilblain during military service in Korea. OBJECTIVE: The purpose of this study is to analyze the clinical characteristics of chilblain in Korean soldiers. METHODS: We reviewed the clinical findings in 199 patients with chilblain who visited the department of dermatology, Armed Forces Capital Hospital during the 5-year period from 2002 to 2007. We investigated the epidemiology, aggravation factors, duration of the disease, clinical manifestations and treatment. RESULTS: The results were as follows; The average age was 21.51+/-1.86 years old. The chilblain usually developed during winter and the duration of symptoms ranged from 1 day to 4 years. All patients developed skin lesions on acral areas. Erythematous skin lesions were observed in 133 patients and purpuric lesions were seen in 56 patients. The lesions were symmetrical in 171 patients 43 patients had history of recurrence. Treatment includes nifedipine and pentoxyfilline. The supportive treatment includes rest and keeping warm, topical corticosteroids or antibiotics and oral antihistamine, analgesics, or antibiotics. CONCLUSION: This investigation is expected to help understand and obtain more information on chilblain.

A Case of Childhood Pernio Treated with Nifedipine / 대한피부과학회지

Pernio, or chilblains, are a localized inflammatory lesion of the skin resulting from an abnormal response to cold. The condition is characterized by cutaneous lesions located on the distal parts, such as the fingers, toes, nose and ears. Pernio develops among susceptible individuals who are exposed to non-freezing condition and most commonly occurs among young women and children. However, reports on childhood pernio are rarely found. Several conditions have been described as predisposing factors to pernio, including excessive cold exposure, low-grade vasculitis, the presence of cryoproteins, anorexia nervosa, systemic lupus erythematous and antiphospholipid antibodies. It is important, therefore, when evaluating a patient with chronic pernio who is resistant to conservative management, to exclude an underlying condition and also to determine whether additional testing is necessary. Herein, we present an uncommon case of a 5-year-old female patient with chronic pernio that may be associated with the presence of cold agglutinin. She received topical steroids prior to evaluation but no improvement was seen. Howere, treatment with calcium channel blocker, nifedipine, was of benefit to our patient.

Chilblains at Abbottabad, a moderately cold weather station

Chilblains are quite often seen in various parts, in particular cold weather areas of Pakistan. Unfortunately, no studies have so far been carried out in Pakistan, to determine epidemiological aspects of chilblains. The objective of this study was to see the epidemiological patterns of chilblains at a moderately cold weather station. The study was conducted at Dermatology out patient department of Combined Military Hospital, Abbottabad from 1 Dec 2004 to 31 Mar 2005. All the patients fulfilling clinical criteria for the diagnosis of chilblains were registered. Every patient was interviewed in detail followed by thorough physical examination. Complete Blood Count, Urine Routine Examination and Anti Nuclear Factor were carried out in only those patients, having the disease of more than 3 years duration. A pre-designed proforma was filled separately for each patient. Out of 111 patients, 67 [60.4%] males and 44 [39.6%] females were registered with the diagnosis of chilblains. Fifty nine [53.2%] patients were locals and 52 [46.8%] were non locals. Out door workers were 75 [67.6%]. Onset in majority of the patients [42.3%] was in the age group 11-20 years. Family history of chilblains was present in 25 [22.5%] patients and 8 patients [7.2%] were smokers. The disease of longer duration was more common in females and locals. At moderately cold weather areas, out door workers and young adolescents are more likely to develop Chilblains. The disease of longer duration is more common among females and local residents. On the other hand, first episode or the disease of shorter duration is more common among non locals at moderately cold weather stations because of poor acclimatization and inadequate protection

Clinical observation on 136 cases of chilblains treated by acupuncture combined with massage / 中国针灸

<p><b>OBJECTIVE</b>To compare therapeutic effects of acupuncture plus massage and medicine on chilblains.</p><p><b>METHODS</b>Two hundred and sixty-four cases of chilblains were randomly divided into an acupuncture group of 136 cases and a medicine group of 128 cases. The acupuncture group were treated by acupuncture at 9 acupoints such as Yamen (GV 15), Laogong (PC 8), Sanyinjiao (SP 6), etc. plus massage, and the medicine group by dong chuang Plaster.</p><p><b>RESULTS</b>In the acupuncture group, 111 cases were cured and 136 cases were effective, the effective rate being 100.0%; and in the medicine group, 55 cases were cured and 98 cases were effective, the effective rate being 76.6%, with a very significant difference between the two groups in the therapeutic effect (P < 0.01).</p><p><b>CONCLUSION</b>Acupuncture plus massage is superior to dong chuang plaster in therapeutic effect on chilblains.</p>

A Case of Chilblain Lupus Erythematosus / 대한피부과학회지

Chilblain lupus erythematosus is a special, relatively rare subtype of chronic cutaneous lupus erythematosus. Usually, discoid lesions precede or occur concurrently with perniotic lesions, and about 20% of the patients later develop systemic lupus erythematosus. Herein, we present a 26-year-old female patient who developed erythematous to purplish scaly and crusted papules on the palms, fingers and toes. She also had erythematous hyperkeratotic plaques on the ears and scalp with scarring alopecia that was consistent with discoid lupus erythematosus. Histopathologic finding revealed perivascular and periappendigeal lymphocytic infiltration and fibrin deposition in dermal blood vessels. Therefore, this represents a case of chilblain lupus erythematosus which is a rare subtype and shows typical clinical and histopathologic findings.

Clinical Features and Predilection Sites of the Lesions Observed in Chronic Cutaneous Lupus Erythematosus / 대한류마티스학회지

OBJECTIVE: The typical clinical feature of chronic cutaneous lupus erythematosus (CCLE) is 'discoid erythema'; however, several different clinical variants exist such as hypertrophic LE, LE profundus, chilblain LE, tumid LE and so on. The heterogeneity-spectrum of the lesional morphology of the cutaneous lesions and the predilection sites of the lesions of twenty Korean patients with CCLE were examined and tried to compare to those of CCLE patients of Caucasian origin. METHODS: Clinical examinations of twenty patients with CCLE were carried out by dermatologists to define the morphologic characteristics of cutaneous lesions and the anatomic predilection sites of the lesions. RESULTS: The most common cutaneous lesion-morphology noted in Korean patients with CCLE was classic discoid erythema. Three cases had concurrent cutaneous lesions of other clinical variants of CCLE. The predilection sites of all lesions were the face (cheeks) and head (frontal area). These clinical findings observed among this group of patients are similar to those features seen in people of Caucasian origin. CONCLUSION: The most frequent clinical feature of CCLE was discoid erythema and the predilections sites of the lesions found were the face and the scalp; indicating that the morphological heterogeneity-spectrum of cutaneous lesions and the predilection sites observed in Korean patients of CCLE seem to have no remarkable differences when compared with Caucasian cases with the same diagnoses.

A Case of Chilblain Lupus Erythematosus Associated with Antibodies to SSA/Ro / 대한피부과학회지

Chilblain lupus erythematosus (CLE) is a subtype of lupus erythematosus. It is characterized by cutaneous lesions located on the fingers, toes, nose, ears, elbows, heels and knees and is induced or aggravated by exposure to a cold or damp climate. Various laboratory alterations including antinuclear antibody (ANA), anti-dsDNA antibody, anti-SSA/SSB antibody, rheumatoid factor, and cryoglobulin have been reported in CLE patients. Especially, SSA/Ro antibodies may be especially associated with CLE. Approximately 20% of patients presenting with CLE later develop systemic lupus erythematosus (SLE). A 28-year-old man diagnosed with SLE presented with a 2-year history of pruritic erythematous plaques on the ears and dorsa of his hands and feet. The lesions developed or were aggravated the cold weather. In the summer, they were reported to improve, but they did not heal. ANA anti- SSA/SSB antibodies, and anti-dsDNA antibodies were found to be present. He was treated with a topical steroid and advised to avoid the cold.

Eritema pernio y vasculitis linfocítica de los pabellones auriculares: reporte de dos casos / Chuildblain and lymphocytic vasculitis of ears: report of two cases

Se reportan dos casos de eritema pernio, muy similares clínicamente, que afectan los pabellones auriculares con deformaciones cicatrizales por exposición al frío intenso. La vasculitis linfocítica resulta histológicamente un patrón común en ambos casos. Se revisa además la etiopatogenia, los diagnósticos diferenciales y las medidas terapéuticas.