Recently, there have been impressive advancements in understanding of the immune mechanisms underlying cutaneous inflammatory diseases. To understand these diseases on a deeper level and clarify the therapeutic targets more precisely, numerous studies including in vitro experiments, animal models, and clinical trials have been conducted. This has resulted in a paradigm shift from non-specific suppression of the immune system to selective, targeted immunotherapies. These approaches target the molecular pathways and cytokines responsible for generating inflammatory conditions and reinforcing feedback mechanisms to aggravate inflammation. Among the numerous types of skin inflammation, psoriasis and atopic dermatitis (AD) are common chronic cutaneous inflammatory diseases. Psoriasis is a IL-17–mediated disease driven by IL-23, while AD is predominantly mediated by Th2 immunity. Autoimmune bullous diseases are autoantibody-mediated blistering disorders, including pemphigus and bullous pemphigoid. Alopecia areata is an organ-specific autoimmune disease mediated by CD8 + T-cells that targets hair follicles. This review will give an updated, comprehensive summary of the pathophysiology and immune mechanisms of inflammatory skin diseases. Moreover, the therapeutic potential of current and upcoming immunotherapies will be discussed.

Purpose: Magnetic resonance imaging (MRI) can be used for assessing the morphology of the pituitary gland in children with short stature. The purposes of this study were: (1) to determine if pituitary volume (PV) can distinguish patients with growth hormone (GH) deficiency from those with idiopathic short stature (ISS), (2) to validate an association between PV and severity of GH deficiency, and (3) to compare PV between good and poor response groups in children with GH deficiency or ISS after 1 year of treatment. Methods: Data were collected from the medical records of 152 children with GH deficiency or ISS who underwent GH stimulation test, sella MRI, and GH treatment for at least 1 year. Estimated PVs were calculated using the formula of an ellipsoid. We compared the PVs in patients with GH deficiency with those of patients with ISS. In addition, we assessed the association between PV and severity of GH deficiency, and we assessed growth response after treatment. Results: No difference was observed in PV between patients with GH deficiency and those with ISS. The severity of the GH deficiency seemed to be associated with PV (P=0.082), and the height of the pituitary gland was associated with severity of GH deficiency (P<0.005). The PV in the good response group was less than that of the poor response group in patients with GH deficiency (P<0.005), and PV showed no association with responsiveness to GH treatment in patients with ISS (P=0.073). Conclusion The measurement of PV cannot be used for differential diagnosis between GH deficiency and ISS. In patients with GH deficiency, PV tended to be smaller as the severity of GH deficiency increased, but the difference was not significant. PV may be a good response predictor for GH treatment. Further studies, including a radiomics-based approach, will be helpful in elucidating the clinical implications of pituitary morphology in patients with short stature.

X-linked adrenal hypoplasia congenita caused by a mutation in NR0B1/DAX-1 is a rare inherited disorder. Patients with adrenal hypoplasia congenita are usually diagnosed with primary adrenal insufficiency in infancy or early childhood and present hypogonadotropic hypogonadism during adolescence. Our patient first presented with adrenal crisis at the age of 2 months, which was managed with glucocorticoids and mineralocorticoids. At the age of 17 years, testicular volumes of 5 mL each and a stretched penile length of 4 cm were noted. A combined pituitary function test showed a peak luteinizing hormone level of 2.68 mIU/mL, testosterone 13.5 ng/dL, confirming hypogonadotropic hypogonadism. After whole-exome sequencing, a new variant of DAX-1, c.881T>C (p.Leu294Pro), was found. He was diagnosed with X-linked adrenal hypoplasia congenita and then treated with human choriogonadotropin for the induction of spermatogenesis as well as with steroid replacement therapy.

17α-hydroxylase/17,20-lyase deficiency, caused by mutations in the cytochrome P450 family 17 subfamily A member 1 gene (CYP17A1), is an extremely rare form of congenital adrenal hyperplasia that is characterized by diverse phenotypes resulting from specific mutations. Here, we report 2 phenotypic females with 17α-hydroxylase/17,20-lyase deficiency: one with the 46,XX karyotype presenting primary amenorrhea and sexual infantilism, and the other with the 46,XY karyotype presenting a disorder of sexual development. In both cases, the serum levels of adrenocorticotropic hormone, 11-deoxycorticosterone, and gonadotropin were elevated, whereas the levels of testosterone and dehydroepiandrosterone were reduced. Next-generation sequencing revealed one patient with compound heterozygosity for p.Trp17Ter (c.51G>A) and p.His373Leu (c.1118A>T), and the other with homozygosity for p.His373Leu (c.1118A>T). This report further describes 2 cases of 17α-hydroxylase/17,20-lyase deficiency in patients who harbored a p.His373Leu substitution, commonly found in Korean individuals, and presented diverse phenotypes.

X-linked adrenal hypoplasia congenita caused by a mutation in NR0B1/DAX-1 is a rare inherited disorder. Patients with adrenal hypoplasia congenita are usually diagnosed with primary adrenal insufficiency in infancy or early childhood and present hypogonadotropic hypogonadism during adolescence. Our patient first presented with adrenal crisis at the age of 2 months, which was managed with glucocorticoids and mineralocorticoids. At the age of 17 years, testicular volumes of 5 mL each and a stretched penile length of 4 cm were noted. A combined pituitary function test showed a peak luteinizing hormone level of 2.68 mIU/mL, testosterone 13.5 ng/dL, confirming hypogonadotropic hypogonadism. After whole-exome sequencing, a new variant of DAX-1, c.881T>C (p.Leu294Pro), was found. He was diagnosed with X-linked adrenal hypoplasia congenita and then treated with human choriogonadotropin for the induction of spermatogenesis as well as with steroid replacement therapy.

17α-hydroxylase/17,20-lyase deficiency, caused by mutations in the cytochrome P450 family 17 subfamily A member 1 gene (CYP17A1), is an extremely rare form of congenital adrenal hyperplasia that is characterized by diverse phenotypes resulting from specific mutations. Here, we report 2 phenotypic females with 17α-hydroxylase/17,20-lyase deficiency: one with the 46,XX karyotype presenting primary amenorrhea and sexual infantilism, and the other with the 46,XY karyotype presenting a disorder of sexual development. In both cases, the serum levels of adrenocorticotropic hormone, 11-deoxycorticosterone, and gonadotropin were elevated, whereas the levels of testosterone and dehydroepiandrosterone were reduced. Next-generation sequencing revealed one patient with compound heterozygosity for p.Trp17Ter (c.51G>A) and p.His373Leu (c.1118A>T), and the other with homozygosity for p.His373Leu (c.1118A>T). This report further describes 2 cases of 17α-hydroxylase/17,20-lyase deficiency in patients who harbored a p.His373Leu substitution, commonly found in Korean individuals, and presented diverse phenotypes.

Purpose: Metabolic syndrome (MetS) comprises a cluster of risk factors for future cardiovascular and metabolic diseases. Only a few recent studies have reported the trend in the prevalence of MetS in youth. This study aimed to analyze trends in the prevalence of MetS and nutrient intake in the last 10 years and investigate the changes in MetS components among Korean children and adolescents. Materials and Methods: We analyzed the data of 9513 children and adolescents aged 10–19 years from the 2008–2017 Korean National Health and Nutrition Examination Surveys. Diagnosis of MetS was based on the International Diabetes Federation (IDF) and modified National Cholesterol Education Program-Adult Treatment Panel III (NCEP-ATP III) criteria. Results: Based on the IDF criteria, MetS prevalence increased from 1.53% in 2008 to 3.19% in 2017 (p=0.007). Based on the NCEPATP III criteria, MetS prevalence increased from 2.18% in 2008 to 3.19% in 2017; however, the increase was not statistically significant. Daily calorie and fat intakes increased significantly during the study period. Among the risk factors that MetS comprises, the prevalence rates of central obesity, low high-density lipoprotein cholesterol levels, and high fasting glucose levels increased significantly. Conclusion Over the last 10 years, the prevalence of MetS has grown significantly with increasing calorie and fat intake in Korean children and adolescents. Central obesity and high-density lipoprotein cholesterol and fasting glucose levels have worsened.Therefore, active support and close monitoring are required to control MetS and prevent further increase in the prevalence of cardiovascular diseases.

Background: Glomus tumors are benign mesenchymal neoplasms originating from the subcutaneous glomus body. It is often described as a painful nodule accompanied by tenderness and temperature sensitivity. Objective: To analyze the clinicopathologic features of glomus tumors and determine the correlations between the characteristics of glomus tumors and those of the patients. Methods: We reviewed the medical records and biopsy specimens of 29 cases of glomus tumors diagnosed between June 2006 and May 2021 at a single tertiary hospital. Results: The male to female ratio was 2.6:1, and the mean age of onset was 44.3 years. All cases presented with a solitary lesion, and the most common location was the fingernail (15 cases, 51.7%). Sixteen tumors (55.2%) were located in the digits, all of which were subungual tumors. Among these, nine tumors (56.3%) were observed in the nail bed, and seven (43.7%) were observed in the nail matrix. Thirteen patients (44.8%) had extradigital tumors.Histopathologically, 12 cases were solid glomus tumors (41.4%), 15 were glomangiomas (51.7%), and one was a glomangiomyoma (3.4%). Myxoid stromal changes were observed in nine cases (31.0%), all of which were subungual tumors. All tumors were removed. Postoperative nail deformities were observed in eight cases (50% of subungual tumors). Conclusion At our clinic, glomus tumors were commonly seen as solitary nodules accompanied by pain or tenderness. More than half of the tumors were located in the subungual area, mostly in the fingernails. Tumor removal alleviated the symptoms in most cases, but often resulted in residual nail dystrophy.