Congenital chloride diarrhea (CLD) is a rare autosomal recessive disease caused by mutations in the solute carrier family 26 member 3 (SLC26A3) gene on chromosome 7q31. Affected neonates are vulnerable to dehydration, electrolyte imbalance in the form of hyponatremia, metabolic alkalosis, failure to thrive, or even death if left untreated. Genetic testing for mutations should be considered if the clinical diagnosis remains uncertain because early diagnosis and appropriate management are critical to the disease course in CLD. Several mutations have been reported in Korean patients with CLD, with the most common being the c.2063-1G>T mutation. Here, we report the case of a neonate with prenatally suspected CLD with confirmed novel mutations in the SLC26A3 gene (c.2147C>G; p.Ala716Gly).

Spider angioma (SA) may present as solitary or multiple lesions. Studies have shown that approximately 60% of pregnant women and 38% of healthy children have at least one spider telangiectasia. Hence, solitary SA in an otherwise healthy individual does not warrant further workup. However, multiple spider angiomas (MSAs) are usually suggestive of an underlying systemic disease. Physical examination for MSAs has been reported as the most reliable method to diagnose alcoholic liver cirrhosis; the presence of MSAs is more indicative of liver cirrhosis than just the history of alcohol use because a very low proportion of alcohol drinkers among the general population develop liver cirrhosis. We report a case of MSAs in a 42-year-old alcoholic woman suggesting that MSA is reliable indicator and a warning sign of liver cirrhosis, suggesting that further evaluation and management with the department of hepatology is necessary.

There are geographical, regional, and ethnic differences in the phenotypes and endotypes of patients with drug hypersensitivity reactions (DHRs) in different parts of the world. In Asia, aspects of drug hypersensitivity of regional importance include IgE-mediated allergies and T-cell-mediated reactions, including severe cutaneous adverse reactions (SCARs), to beta-lactam antibiotics, antituberculous drugs, nonsteroidal anti-inflammatory drugs (NSAIDs) and radiocontrast agents. Delabeling of low-risk penicillin allergy using direct oral provocation tests without skin tests have been found to be useful where the drug plausibility of the index reaction is low. Genetic risk associations of relevance to Asia include human leucocyte antigen (HLA)-B*1502 with carbamazepine SCAR, and HLA-B*5801 with allopurinol SCAR in some Asian ethnic groups. There remains a lack of safe and accurate diagnostic tests for antituberculous drug allergy, other than relatively high-risk desensitization regimes to first-line antituberculous therapy. NSAID hypersensitivity is common among both adults and children in Asia, with regional differences in phenotype especially among adults. Low dose aspirin desensitization is an important therapeutic modality in individuals with cross-reactive NSAID hypersensitivity and coronary artery disease following percutaneous coronary intervention. Skin testing allows patients with radiocontrast media hypersensitivity to confirm the suspected agent and test for alternatives, especially when contrasted scans are needed for future monitoring of disease relapse or progression, especially cancers.
Adult ; Allopurinol ; Anaphylaxis ; Anti-Bacterial Agents ; Asia ; Asian Continental Ancestry Group ; Aspirin ; Asthma ; Carbamazepine ; Child ; Cicatrix ; Contrast Media ; Coronary Artery Disease ; Diagnostic Tests, Routine ; Drug Hypersensitivity ; Ethnic Groups ; Humans ; Hypersensitivity ; Penicillins ; Percutaneous Coronary Intervention ; Phenotype ; Recurrence ; Skin Tests

Systemic sclerosis (SSc) is a chronic systemic disease of unknown etiology characterized by vasculopathy, excessive accumulation of extracellular matrix, and fibrosis of the skin and other internal organs. Although its etiology remains elusive, approximately one third of SSc patients presents with additional autoimmune disease, which suggests that an autoimmune mechanism is a major component of the underlying pathophysiology. On the other hand, primary biliary cirrhosis (PBC) and autoimmune hepatitis (AIH) are two main autoimmune liver diseases. A 41-year-old female previously diagnosed with PBC/AIH overlap syndrome presented with multiple, painful brownish to erythematous firm patches on the hands, arms, axillae, neck, abdomen, and thighs. Laboratory work-up yielded positive results for anti-nuclear antibody, anti-Ro/Sjögren's-syndrome-related antigen A autoantibodies, and perinuclear anti-neutrophil cytoplasmic antibodies while punch biopsy of her left hand showed characteristics that are consistent with scleroderma. Herein, we report the first case of a patient with diffuse cutaneous SSc and concurrent PBC/AIH overlap syndrome and suggest that this coexistence of multiple autoimmune diseases is not a coincidence but rather that a common autoimmune pathogenesis may exist.

No abstract available.
Giant Cells ; Granuloma, Giant Cell ; Hot Temperature

Autoimmune pancreatitis (AIP) occurs in two forms. Type 1 AIP is an IgG4-related systemic fibro-inflammatory disease. Type 2 AIP is not associated with altered levels of IgG4, and involves only the pancreas. Here, we report a case of type 2 AIP manifesting as acute pancreatitis in a 20-year-old male with ulcerative colitis. The patient was definitely diagnosed with type 2 AIP based on typical pancreatic imaging, supportive histology, history of ulcerative colitis, and steroid responsiveness.
Colitis, Ulcerative* ; Humans ; Immunoglobulin G ; Male ; Pancreas ; Pancreatitis* ; Ulcer* ; Young Adult

The purpose of this study is to characterize the effects of KHG26792 (3-(naphthalen-2-yl(propoxy) methyl)azetidine hydrochloride), a potential skin whitening agent, on melanin synthesis and identify the underlying mechanism of action. Our data showed that KHG26792 significantly reduced melanin synthesis in a dose-dependent manner. Additionally, KHG26792 downregulated microphthalmia-associated transcription factor (MITF) and tyrosinase, the rate-limiting enzyme in melanogenesis, although tyrosinase was not inhibited directly. KHG26792 activated extracellular signal-regulated kinase (ERK), whereas an ERK pathway inhibitor, PD98059, rescued KHG26792-induced hypopigmentation. These results suggest that KHG26792 decreases melanin production via ERK activation. Moreover, the hypopigmentary effects of KHG26792 were confirmed in a pigmented skin equivalent model using Cervi cornus Colla (deer antler glue), in which the color of the pigmented artificial skin became lighter after treatment with KHG26792. In summary, our findings suggest that KHG26792 is a novel skin whitening agent.
Animals ; Antlers ; Cornus ; Hypopigmentation ; MAP Kinase Signaling System ; Melanins* ; Microphthalmia-Associated Transcription Factor ; Monophenol Monooxygenase ; Phosphotransferases ; Skin Lightening Preparations ; Skin* ; Skin, Artificial

In this study we investigated the effects of fucoidan on the proliferation of fibroblasts and the reconstruction of a skin equivalent (SE). Fucoidan significantly stimulated the proliferation of CCD-25Sk human fibroblasts and Western blot analysis demonstrated that fucoidan markedly increased the expression of cyclin D1 and decreased the expression of p27. Fucoidan was used to reconstruct SE. Immunohistochemical staining showed that the addition of fucoidan to dermal equivalents increased expression of proliferating cell nuclear antigen (PCNA) and p63. In addition, expression of alpha6-integrin was significantly increased by fucoidan, whereas expression of beta1-integrin, type 1 collagen, elastin, fibronectin did not markedly change. These results suggest that fucoidan has positive effects on epidermal reconstruction and will therefore be beneficial in the reconstruction of SE.
Blotting, Western ; Collagen Type I ; Cyclin D1 ; Elastin ; Fibroblasts ; Fibronectins ; Humans ; Proliferating Cell Nuclear Antigen ; Skin*

Cutaneous bronchogenic cysts are rare, and stem from developmental abnormalities of the tracheobronchial tree. The condition is often misdiagnosed clinically, with the correct diagnosis usually established by histopathologic examination. Published reports of bronchogenic or branchial anomalies are increasing, and the traditional defining characteristics of location and histopathology are proving to be less reliable for the identification of cutaneous bronchogenic cysts. In this report, we describe a case of a cutaneous bronchogenic cyst that presented with unusual histologic features, and was associated with several lymphoid follicles.
Bronchogenic Cyst