Pediatric differentiated thyroid cancers (DTCs), mostly papillary thyroid cancer (PTC, 80-90%), are diagnosed at more advanced stages with larger tumor sizes and higher rates of locoregional and/or lung metastasis. Despite the higher recurrence rates of pediatric cancers than of adult thyroid cancers, pediatric patients demonstrate a lower mortality rate and more favorable prognosis. Considering the more advanced stage at diagnosis in pediatric patients, preoperative evaluation is crucial to determine the extent of surgery required. Furthermore, if hereditary tumor syndrome is suspected, genetic testing is required. Recommendations for pediatric DTCs focus on the surgical principles, radioiodine therapy according to the postoperative risk level, treatment and follow-up of recurrent or persistent diseases, and treatment of patients with radioiodine-refractory PTCs on the basis of genetic drivers that are unique to pediatric patients.

Differentiated thyroid cancer demonstrates a wide range of clinical presentations, from very indolent cases to those with an aggressive prognosis. Therefore, diagnosing and treating each cancer appropriately based on its risk status is important. The Korean Thyroid Association (KTA) has provided and amended the clinical guidelines for thyroid cancer management since 2007. The main changes in this revised 2024 guideline include 1) individualization of surgical extent according to pathological tests and clinical findings, 2) application of active surveillance in low-risk papillary thyroid microcarcinoma, 3) indications for minimally invasive surgery, 4) adoption of World Health Organization pathological diagnostic criteria and definition of terminology in Korean, 5) update on literature evidence of recurrence risk for initial risk stratification, 6) addition of the role of molecular testing, 7) addition of definition of initial risk stratification and targeting thyroid stimulating hormone (TSH) concentrations according to ongoing risk stratification (ORS), 8) addition of treatment of perioperative hypoparathyroidism, 9) update on systemic chemotherapy, and 10) addition of treatment for pediatric patients with thyroid cancer.

Background: Gaucher disease (GD) is an autosomal recessive disorder characterized by excessive accumulation of glucosylceramide in multiple organs. This study was performed to determine the detection rate of GD in a selected patient population with unexplained splenomegaly in Korea. Methods: This was a multicenter, observational study conducted at 18 sites in Korea between December 2016 and February 2020. Adult patients with unexplained splenomegaly were enrolled and tested for β-glucosidase enzyme activity on dried blood spots (DBS) and in peripheral blood leukocytes. Mutation analysis was performed if the test was positive or indeterminate for the enzyme assay. The primary endpoint was the percentage of patients with GD in patients with unexplained splenomegaly. Results: A total of 352 patients were enrolled in this study (male patients, 199; mean age, 48.42 yr). Amongst them, 14.77% of patients had concomitant hepatomegaly. The most common sign related to GD was splenomegaly (100%), followed by thrombocytopenia (44.32%) and, anemia (40.91%). The β-glucosidase activity assay on DBS and peripheral leukocytes showed abnormal results in sixteen and six patients, respectively. Eight patients were tested for the mutation, seven of whom were negative and one patient showed a positive mutation analysis result. One female patient who presented with splenomegaly and thrombocytopenia was diagnosed with type 1 GD. The detection rate of GD was 0.2841% (exact 95% CI, 0.0072‒). Conclusion The detection rate of GD in probable high-risk patients in Korea was lower than expected.However, the role of hemato-oncologists is still important in the diagnosis of GD.

BACKGROUND/OBJECTIVES: Inflammatory Bowel Disease (IBD) has rapidly escalated in Asia (including Korea) due to increasing westernized diet patterns subsequent to industrialization. Factors associated with endoplasmic reticulum (ER) stress are demonstrated to be one of the major causes of IBD. This study was conducted to investigate the effect of Lycium barbarum (L. barbarum) on ER stress. MATERIALS/METHODS: Mouse embryonic fibroblast (MEF) cell line and polarized Caco-2 human intestinal epithelial cells were treated with crude extract of the L. chinense fruit (LF). Paracellular permeability was measured to examine the effect of tight junction (TJ) integrity. The regulatory pathways of ER stress were evaluated in MEF knockout (KO) cell lines by qPCR for interleukin (IL) 6, IL8 and XBP1 spliced form (XBP1s). Immunoglobulin binding protein (BiP), XBP1s and CCAAT/enhancer-binding homologous protein (CHOP) expressions were measured by RT-PCR. Scanning Ion Conductance Microscopy (SICM) at high resolution was applied to observe morphological changes after treatments. RESULTS: Exposure to LF extract strengthened the TJ, both in the presence and absence of inflammation. In polarized Caco-2 pretreated with LF, induction in the expression of proinflammatory marker IL8 was not significant, whereas ER stress marker XBP1s expression was significantly increased. In wild type (wt) MEF cells, IL6, CHOP and XBP1 spliced form were dose-dependently induced when exposed to 12.5–50 µg/mL extract. However, absence of XBP1 or IRE1α in MEF cells abolished this effect. CONCLUSION: Results of this study show that LF treatment enhances the barrier function and reduces inflammation and ER stress in an IRE1α-XBP1-dependent manner. These results suggest the preventive effect of LF on healthy intestine, and the possibility of reducing the degree of inflammatory symptoms in IBD patients.
Animals ; Asia ; Carrier Proteins ; Cell Line ; Diet ; Endoplasmic Reticulum ; Epithelial Cells ; Fibroblasts ; Fruit ; Humans ; Immunoglobulins ; Inflammation ; Inflammatory Bowel Diseases ; Interleukin-6 ; Interleukin-8 ; Interleukins ; Intestines ; Lycium ; Mice ; Microscopy ; Permeability ; Tight Junctions

Immunoglobulin G4-related disease is a recently recognized entity characterized by a mass-forming or regional lesion that contains an extensive infiltration of IgG4-producing plasma cells with dense fibrosis. Immunoglobulin G4-related disease can affect any organ system, but solitary hepatic lesion of Immunoglobulin G4-related disease is very rare. This entity mimics primary malignant hepatic tumor, such as hepatocellular carcinoma or intrahepatic cholangiocarcinoma. We experienced a case of hepatic IgG4-related inflammatory pseudotumor in a 50-year-old woman, mimicking hepatocellular carcinoma.
Carcinoma, Hepatocellular* ; Cholangiocarcinoma ; Female ; Fibrosis ; Granuloma, Plasma Cell* ; Humans ; Immunoglobulins* ; Middle Aged ; Plasma Cells

BACKGROUND: The skin of atopic dermatitis (AD) patients has a high susceptibility to Staphylococcus aureus colonization, and the toxins produced by S. aureus may aggravate AD by acting as superantigens. OBJECTIVE: The purpose of this study was to evaluate the relationship of the skin barrier function, colonization of S. aureus, and the clinical severity of AD. We also examined the predominant toxin genes produced in Korean AD patients. METHODS: Thirty-nine patients with AD were evaluated for clinical severity and skin barrier function by using Severity Scoring of Atopic Dermatitis (SCORAD) index and transepidermal water loss (TEWL). S. aureus was isolated from the forearm, popliteal fossa, and anterior nares of AD patients (n=39) and age-matched controls (n=40); the toxin genes were analyzed by performing multiplex polymerase chain reaction. RESULTS: TEWL showed a statistically significant correlation with clinical severity in patients with AD (p<0.05). TEWL was correlated with the number of S. aureus colonization sites and the presence of nasal colonization, but these results were not statistically significant. S. aureus strains were isolated in 64.1% of the 39 AD patients. The SCORAD index and AD severity were strongly correlated with the number of colonization sites. The predominant toxin gene found in AD patients was staphylococcal enterotoxin a (sea) only, which was produced in 52.6% of patients. The toxin genes sea and toxic shock syndrome toxin-1 (tsst-1) were found together in 42.1%, while tsst-1 only was found in 5.3% of the patients. CONCLUSION: S. aureus strains were isolated in 64.1% of the 39 AD patients. Skin barrier function, as measured by TEWL, revealed a statistically significant correlation with clinical severity in AD patients. The SCORAD index and severity of AD was strongly correlated with the number of colonization. The most common toxin gene was sea in the Korean AD patients and this gene might have an important role in the pathogenesis of AD.
Bacterial Toxins ; Colon ; Dermatitis, Atopic ; Enterotoxins ; Exotoxins ; Forearm ; Humans ; Shock, Septic ; Skin ; Staphylococcus ; Staphylococcus aureus ; Superantigens ; Water Loss, Insensible

Eccrine angiomatous hamartoma (EAH) is a rare benign disease that is characterized by an abnormal proliferation of eccrine glands and vascular elements. It is generally congenital, but it can appear before puberty. It usually presents as a single plaque or nodule, but multiple patch-like lesions are also possible. EAH is mostly asymptomatic, but it is sometimes associated with pain or hyperhidrosis. It generally does not require aggressive treatment, but the lesion can be excised due to pain, enlargement and cosmetic reasons. A 3-week-old Korean female presented with a hemorrhagic skin lesion on the right foot since birth. There was no specific birth history. The lesion first appeared on the third toe of the right foot and quickly spread to almost half of the right foot. Histopathology examination revealed acanthosis in the epidermis and a proliferation of eccrine ducts, glands and capillaries. The eccrine glands were immunohistochemically-positive for carcinoembryonic antigen.
Capillaries ; Carcinoembryonic Antigen ; Cosmetics ; Eccrine Glands ; Epidermis ; Female ; Foot ; Hamartoma ; Hemorrhage ; Humans ; Hyperhidrosis ; Parturition ; Puberty ; Reproductive History ; Skin ; Toes

Sweet syndrome is also called acute febrile neutrophilic dermatosis and this malady is characterized by an abrupt onset of fever, leukocytosis and tender erythematous plaques that are infiltrated by neutrophils. It most commonly occurs in women who are between 30 to 50 years of age. About 50% of the cases are associated with autoimmune disease, sarcoidosis, Behcet's disease and pregnancy. We present here a 48-year-old woman who had tender erythematous tender plaque and nodules with vesicles and pustules over both extremities. She complained of general weakness, chills and arthralgia. We biopsied the nodule and performed laboratory tests. The results of the biopsy were compatible with Sweet syndrome and the laboratory test showed systemic lupus erythematosus. We report here on a case of Sweet syndrome as an initial presentation of systemic lupus erythematosus.
Arthralgia ; Autoimmune Diseases ; Biopsy ; Chills ; Extremities ; Female ; Fever ; Humans ; Leukocytosis ; Lupus Erythematosus, Systemic ; Middle Aged ; Neutrophils ; Pregnancy ; Sarcoidosis ; Sweet Syndrome

BACKGROUND: Demodicosis is a common cutaneous disease that is caused by demodex mites, which reside in the pilosebaceous follicles. However, any data of the clinical features and the factors that induce or aggravate demodicosis is lacking in the Korea literature. OBJECTIVE: We aimed to demonstrate the clinical feature and determine the medical or personal history that influences demodicosis. METHODS: We performed a retrospective study to review clinical features, the histopathologic findings and the past medical and personal history of Korean patients who suffer with demodicosis. RESULTS: Thirty-four patients were diagnosed with demodicosis based on the clinical features, the potassium hydroxide examination and/or the skin biopsy specimen. There were 11 males and 23 female patients (mean age: 44.4 years). The mean duration of disease was 15.5 months. The clinical features were classified to acne rosacea-like (n=26), perioral dermatitis-like (n=3), granulomatous rosacea-like (n=2), pityriasis folliculorum (n=2) and demodex abscess (n=1). Skin biopsy was performed on 10 patients and the histopathologic findings showed demodex mites in the follicular infundibulum or sebaceous ducts with a perifollicular and perivascular inflammatory infiltrate in all case. According to the medical history, 17 patients had history of chronic use of topical steroid and calcineurin inhibitor and 5 patients didn't use the soap during washing their face. CONCLUSION: Our findings indicate that demodicosis demonstrates various clinical presentations. If patients with facial eruption chronically use topical steroid or calcineurin inhibitor or they do not use soap, demodicosis should be considered in the differential diagnosis and a potassium hydroxide examination or skin biopsy may be helpful to diagnose and treat the facial eruption.
Abscess ; Acne Vulgaris ; Biopsy ; Calcineurin ; Diagnosis, Differential ; Female ; Humans ; Hydroxides ; Korea ; Male ; Mites ; Pityriasis ; Potassium ; Potassium Compounds ; Retrospective Studies ; Skin ; Soaps

Chromoblastomycosis is a chronic fungal disease of the skin and subcutaneous tissues caused by a group of dematiaceous (black) fungi. The most common etiologic agents are Fonsecaea pedrosoi and Cladophialophora carrionii, both of which can be isolated from plant debris. The infection usually follows traumatic inoculation by a penetrating thorn or splinter wound. Several months after the injury, painless papules or nodules appear on the affected area; these papules then progress to scaly and verrucose plaques. We report a case of chromoblastomycosis caused by Phialophora richardsiae, which has been rarely associated with chromoblastomycosis. The case involved a 43-year-old male, who for the past 2 months had noted an erythematous, pustulous plaque that was somewhat dark brown in color on his right shin; the plaque also had intermittent purulent discharge and crust formation. On histopathological examination, chronic granulomatous inflammation and sclerotic cells were seen. The tissue fungus culture grew out the typical black fungi of P. richardsiae, which was confirmed by polymerase chain reaction. The patient has been treated with a combination of terbinafine and itraconazole for 3 months with a good clinical response.
Adult ; Chromoblastomycosis ; Fungi ; Humans ; Inflammation ; Itraconazole ; Male ; Naphthalenes ; Phialophora ; Plants ; Polymerase Chain Reaction ; Skin ; Subcutaneous Tissue