Vesicular Bullous Pemphigoid in a 23-Year-Old Male

No abstract available.

Filaggrin Mutation in Korean Patients with Atopic Dermatitis

PURPOSE: Atopic dermatitis (AD) is a chronic, relapsing eczematous inflammatory skin disease. Mutations in the filaggrin gene (FLG) are major predisposing factors for AD. Ethnic differences exist between Asian and European populations in the frequency and spectrum of FLG mutations. Moreover, a distinct set of FLG mutations has been reported in Asian populations. The aim of this study was to examine the spectrum of FLG mutations in Koreans with AD. We also investigated the association of FLG mutations and clinical features of AD and compared the Korean FLG landscape with that of other East Asian countries. MATERIALS AND METHODS: Seventy Korean patients with AD were enrolled in this study. Fourteen FLG mutations previously detected in Korean, Japanese, and Chinese patients were screened by genotyping. RESULTS: Four FLG null mutations (3321delA, K4022X, S3296X, and S2889X) were identified in eleven patients (15.7%). The most commonly detected mutations in Korean patients with AD were 3321delA (n=6, 9.1%) and K4022X (n=3, 4.5%). FLG mutations were significantly associated with elevated IgE (≥200 KIU/L and/or MAST-CLA >3+, p=0.005), palmar hyperlinearity (p<0.001), and a family history of allergic disease (p=0.021). CONCLUSION: This study expanded our understanding of the landscape of FLG mutations in Koreans and revealed an association between FLG mutations and AD phenotype.

Analysis of Serum Cytokine Profile in Pemphigus

BACKGROUND: Pemphigus is a group of autoimmune blistering diseases affecting skin and mucous membranes. While pemphigus is an autoantibody mediated disease, the role of T cells and cytokines in the pathogenesis is being increasingly recognized. OBJECTIVE: This study was conducted to observe alterations in the serum cytokine levels of patients with pemphigus vulgaris (PV), pemphigus foliaceous (PF), paraneoplastic pemphigus (PNP) and compare with bullous pemphigoid (BP) and healthy subjects. METHODS: A total of 75 subjects (28 PV, 13 PF, 7 PNP, 7 BP, and 20 healthy controls) were included, all patients in active disease state. Serum levels of interferon (IFN)-γ, interleukin (IL)-4, IL-6, IL-17A, IL-10, tumor necrosis factor (TNF)-α, and IL-8 were measured by enzyme-linked immunosorbent assay. RESULTS: The median concentration of IFN-γ was lower in PV and BP patients compared to control (0.77, 0.34 and 1.63 pg/ml, respectively). IL-6 and IL-10 was significantly higher in PNP patients compared to control (4.92 and 0.24 pg/ml for IL-6, 0.86 and <0.12 pg/ml for IL-10, respectively). IL-8 was increased significantly in PV and PNP patients compared with control (11.85, 31.5 and 8.31 pg/ml, respectively). For IL-4, IL-17A and TNF-α, no significant difference was observed between the five groups. CONCLUSION: The decreased level of IFN-γ in PV may imply suppressed Th1 response in the active disease stage. A Th2 predominant response is suggested in the active stage of PNP, with elevated serum levels of IL-6 and IL-10. Increased level of proinflammatory cytokine IL-8 is observed in the sera of PV and PNP patients.

Retrospective Review of 19 Patients with Lentigo Maligna Melanoma / 대한피부과학회지

BACKGROUND: Lentigo maligna melanoma (LMM) is a subtype of melanoma that typically develops on sun-damaged skin. LMM is estimated to comprise 4~15% of melanomas, but the prevalence is known to be relatively lower in the Korean population than in the Caucasian population. OBJECTIVE: To review the clinico-pathologic features and treatment outcomes of Korean patients with LMM. METHODS: Nineteen patients diagnosed with LMM during 2003~2015, in the Yonsei University Health System, were included in this study. The age and sex of the patients, lesion location, thickness (Breslow), stage, treatment methods, BRAF, NRAS, and KIT mutation status, and survival rates were analyzed. RESULTS: Among the 19 Korean patients, 11 were male and 8 were female. The median age was 59.2 years. The most common site was the cheek (47.4%), followed by the scalp, eyelid, nose, forehead, lip, and neck. At the time of diagnosis, 13 patients were in localized stages (5 patients, stage 0; 3 patients, stage I; and 5 patients, stage II) and 6 patients were in advanced stages (3 patients, stage III; and 3 patients, stage IV). Patients in the localized stages showed better overall survival (OS) than those in the advanced stages (p=0.012). Nine patients were treated with a wide excision, and 6 using Mohs micrographic surgery. Three patients received high-dose interferon-α therapy; 6, chemotherapy; and 4, radiotherapy. Two patients in stage 0 were treated with topical ingenol mebutate. Two patients had BRAF V600E mutation; 1, NRAS G12R mutation; and 1, KIT mutation. Median OS of the patients was 40.8 months. CONCLUSION: Our analysis provides additional information about clinical characteristics, treatment, and prognosis of LMM in Korean patients.

A Case of Pemphigus Herpetiformis with Only Immunoglobulin G Anti-Desmocollin 3 Antibodies

Pemphigus represents a group of autoimmune blistering diseases caused by autoantibodies against desmogleins (Dsgs), a class of desmosomal cadherins. Recently, several pemphigus patients only with desmocollin (Dsc) 3-specific antibodies have been reported. Here, we report a case of pemphigus herpetiformis (PH), where only anti-Dsc3-specific antibodies but not anti-Dsg antibodies were detected. A 76-year-old woman presented with a 3-year history of blister formation. Physical examination revealed pruritic erythemas with vesicles on the trunk and legs, but no lesions of the oral mucosa. A skin biopsy specimen revealed intraepidermal blister containing neutrophils, eosinophils, and lymphocytes. Direct immunofluorescence (IF) showed immunoglobulin G (IgG) and complement 3 (C3) depositions on the keratinocyte cell surfaces. Indirect IF showed IgG anti-keratinocyte cell surface antibodies. These findings hinted at a diagnosis of pemphigus. However, repeated enzyme-linked immunosorbent assays (ELISAs) for both anti-Dsg1 and 3 antibodies proved to be negative. Immunoblotting of normal human epidermal extracts revealed Dsc antibodies, and recently established ELISAs using human Dsc1-Dsc3 recombinantly expressed in mammalian cells detected anti-Dsc3 antibodies. Based on these clinical, histopathological, and immunological findings, the patient was diagnosed as PH with only anti-Dsc3 antibodies. Treatment with corticosteroid prednisolone and steroid-sparing agent dapsone accomplished complete clinical remission of the patient.

A Solitary Skull Lesion of Syphilitic Osteomyelitis

We experienced a rare case of solitary syphilitic osteomyelitis of the skull without any other clinical signs or symptoms of syphilis. A 20-year-old man was referred due to intermittent headache and mild tenderness at the right parietal area of the skull with a palpable coin-sized lesion of softened cortical bone. On radiological studies, the lesion was a radiolucent well enhanced mass (17 mm in diameter). The erythrocyte sedimentation rate (52 mm/h) and C-reactive protein (2.24 mg/dL) were elevated on admission. Serum venereal disease research laboratory (VDRL) and Treponema pallidum haemagglutination assay (TPHA) tests were positive. There were no clinical signs or symptoms of syphilis. After treatment with benzathine penicillin, we removed the lesion and performed cranioplasty. The pathologic finding of the skull lesion was fibrous proliferation with lymphoplasmocytic infiltration forming an osteolytic lesion. In addition, a spirochete was identified using the Warthin-starry stain. The polymerase chain reaction study showed a positive band for Treponema pallidum. Solitary osteomyelitis of the skull can be the initial presenting pathological lesion of syphilis.

Postoperative Vasospasm in Unruptured Intracranial Aneurysm

The cerebral vasospasm after clipping surgery of unruptured aneurysm is uncommon. A 44-year-old man with unruptured left middle cerebral artery(MCA) aneurysm had clipping surgery. From the third postoperative day, he presented with drowsy mentality, dysphasia and right hemiparesis. Computed tomographic scans showed low density area in frontotemporal lobe and midline shift. Transfemoral cerebral angiography revealed severe vasospasm in supraclinoid internal carotid artery, anterior cerebral artery, and MCA on the operative side. We performed left frontotemporoparietal craniectomy and hypertensive-hypervolemic therapy. He recovered without neurological deficits but for dysphasia. Neurosurgeon should be alert to the possibility of vasospasm after clipping surgery even in case of unruptured cerebral aneurysm.

Two Cases of Delayed Tension Pneumocephalus

We describe two cases of tension pneumocephalus, one caused by ventriculoperitoneal shunt for communicating hydrocephalus, and the other caused by craniocerebral trauma. In the first case report, we examined the relationship between cerebrospinal fluid leakage and delayed onset tension pneumocephalus. The second case report, we addressed issues such as the diagnosis, management, and pathogenesis, as well as computerized tomography(CT) findings.

Two Cases of Delayed Tension Pneumocephalus

We describe two cases of tension pneumocephalus, one caused by ventriculoperitoneal shunt for communicating hydrocephalus, and the other caused by craniocerebral trauma. In the first case report, we examined the relationship between cerebrospinal fluid leakage and delayed onset tension pneumocephalus. The second case report, we addressed issues such as the diagnosis, management, and pathogenesis, as well as computerized tomography(CT) findings.

Awareness for Serious Spinal Complications Predicted after Acupuncture Procedures for Pain Control

OBJECTIVE: Acupuncture has been practiced to treat back pain in the oriental culture for several centuries and still occupies an integral part of traditional oriental medicine. Nowadays, it also comprises one aspect of the so-called alternative medicine, being increasingly practiced in western conturies. However, it has been sometimes practiced less carefully without awareness for adverse effects after acupuncture treatment. This study is performed to stress the concern about the serious complications possibly arising after acupuncture. METHODS: The medical records and radiological datas of 5 patients who suffered from serious complications after acupuncture from 1999 to 2002, were retrospectively reviewed. All 5 patients has treated with acupuncture for pain control before the admission. They did not have any medical problems such as diabetes mellitus, liver diseases, and hematologic problems. RESULTS: Epidural abscess was found in 4 patients and subdural hemorrhage in 1 patient. Among 4 patients with epidural abscess, 3 patients without myelitis had good recovery of neurologic symptoms. However, one patient who was combined with myelitis had poor outcome. One patient who was diagnosed subdural hemorrhage was improved with conservative treatment. CONCLUSION: Acupuncture has been and is being practiced extensively in medical field. However, it has been sometimes abused recklessly for the pain control related with spine, that might result in serious complications such as epidural abscess or subdural hemorrhage as in our cases. These results should raise concern about serious complications that may be developed in practicing the acupuncture.