An Adolescent with Recurrent Intracranial Hemorrhage, and Skin Lesion / 罕见病研究

We presented an adolescent with recurrent intracranial hemorrhage and skin lesion. The diagnosis was unclear and the treatment was difficult. Through a multidisciplinary effort type Ⅰ interferon disease was suspected and later, an interferon-stimulated gene was further detected. Considering the high morbidity and fatality rate of recurrent intracranial hemorrhage, tofacitinib and hydroxychloroquine were administered. After treatment, the livedo reticularis was significantly regressed. Unfortunately, the intracranial hemorrhage recurred due to a pre-existing cerebral aneurysm, leading to death of the patient. The diagnosis and treatment of this case highlight the importance of multidisciplinary collaboration in the diagnosis and treatment of difficult and rare diseases.

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.

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 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.

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.

A Case of Chilblain Lupus Erythematosus / 대한피부과학회지

Chilblain lupus erythematosus (LE) is a chronic unremitting form of LE seen predominantly in women. Chronic facial discoid LE frequently appears before the chilblain form. It may progress to systemic LE more frequently than other forms of chronic cutaneous LE do. We reported a case of chilblain LE in a 28-year-old male. He has had 1-5mm sized scaly erythematous macules on the ear, face, finger and toe tips for 10 years and these lesions have been aggravated in winter. Histopathologic findings were consistent with chilblain LE. The laboratory findings showed antinuclear antibody and anti-ds DNA antibody were positive but cryoglobulin and cold agglutinin were negative. One year later, lupus nephritis developed with leukopenia and decreased C3, C4 levels. He was diagnosed as systemic LE.

A Case of Chilblain Lupus Erythematosus / 대한피부과학회지

Chilblain lupus erythematsus is a rare special subtype of chronic cutaneous lupus erythematosus characterized erythematous acral skin lesion induced by cold, damp climate. Approximately, only 20% of the patients presenting with chilblain lupus erythematosus later develop systemic lupus erythematosus(SLE). We present here a case of chilblain lupus erythematosus, associated with a development of SLE later. A 29-year-old female patient has had violaceous and erythematous papules on the ear, dorsal hands and finger tips for 10 years and these lesions have been aggravated by winter. She has been diagnosed as a suspicious SLE for 3 years and then was treated with oral prednisolone and hydroxychloroqine.

Transthoracic endoscopic T_(2～3) sympathectomy for palmar hyperhidrosis with chilblain / 中国微创外科杂志

Objective To explore the efficacy of transthoracic endoscopic T2～3 sympathectomy in the treatment of palmar hyperhidrosis with chilblain. Methods A total of 16 patients underwent bilateral transthoracic endoscopic T_2～3 sympathectomy. The sympathetic chain was cut off on the third posterior rib. Palmar skin temperature was monitored simultaneously during the operation. Results The procedure was successfully completed without complications in all the 16 patients. The palmar temperature on the side of prior thoracotomy was significantly higher at 15 min after sympathectomy (33.8?1.3 ℃) than before operation (29.8?0.8 ℃; q=12.513, P

Clinical and Histopathologic Features of Pernio / 대한피부과학회지

BACKGROUND: Pernio or chilblain is an abnormal reaction to damp cold air, resulting in pruritic erythematous swellings on acral skin. The histologic features are subepidermal edema, diffuse fluffy edema of endothelial cell, and superficial or superficial and deep perivascular lymphocytic infiltrates. Many studies with a large sample size have been conducted in western countries, but there were no collective studies of pernio that have been reported in Korea. OBJECTIVE: The purpose of this study was to clarify the clinical and histopathologic features of pernio in Korea. METHODS: We reviewed the clinical and histopathologic findings in ten patients with pernio who visited the Department of Dermatology, Kosin Medical College Gaspel Hospital during the 10 year period from 1988 to 1997. RESULTS: The results were as follows.1. The age distribution was in the range of 6-50 year old. The prevalance was heighest in the third and fourth decade. Sex ratio was 1:4 (2 males :8 females).The duration of symptoms ranged from 4 days to 30 years. All patients developed skin lesions on the acral area. Two male patients developed skin lesions on the hand associated with cold exposure and outdoor works. All patient had itching and burning papules and/or plaques, and one had a painful hard nodule. Laboratory studies were all negative and within normal ranges.2. Histopathologic features revealed subepidermal edema, diffuse fluffy edema of endothelial cell, and superficial or superficial and deep perivascular lymphocytic infiltrates in all specimens. 3. Treatment includes prophylatic measures against cold and nifedipine(calcium channel inhibiting drug). In more severe cases, pentoxifylline might be helpful. CONCLUSION: Our study suggests that pernio commonly occurs in twenty to forty year old females during fall and winter. Upon exposure to cold temperatures, the acral skin develops pruritic erythematous papules and plaques. If these lesions persisit for a long time or recur, they may progress to vesicle and ulceration and possibly develop vasculitis which does not respond to therapy well. Thus, a thorough understanding of clinical and histopathologic features of pernio is vital in making a diagnosis, a treatment plan and determining the prognosis.

A Case of Chilblain Lupus Erythematosus / 대한피부과학회지

Chilblain lupus erythematosus(CLE) is a chronic unremitting from of LE seen predomin antly in women, The chilblain lesion occurs commonly on the digits, calves and heels. Chronic facial discoid LE usually appears before the chilblain form. A 23-year-old female had relatively well defined, erythematous discoid plaques on her both cheeks and scattered erythema multiforme-like ring lesions on her right hand and right wrist. There were also chilblain lesions showing multiple, purple colored macules on her knees, lower legs and periungual areas of fingers and toes. The skin lesions developed at November, 1982 and then the skin lesions remitted during the next summer. The skin lesions recurred at December, 1983.