Rare endocrine diseases are complex conditions that require lifelong specialized care due to their chronic nature and associated long-term complications. In Korea, a lack of nationwide data on clinical practice and outcomes has limited progress in patient care. Therefore, the Multicenter Networks for Ideal Outcomes of Pediatric Rare Endocrine and Metabolic Disease (OUTSPREAD) study was initiated. This study involves 30 centers across Korea. The study aims to improve the long-term prognosis of Korean patients with rare endocrine diseases by collecting comprehensive clinical data, biospecimens, and patient-reported outcomes to identify complications and unmet needs in patient care. Patients with childhood-onset pituitary, adrenal, or gonadal disorders, such as craniopharyngioma, congenital adrenal hyperplasia (CAH), and Turner syndrome were prioritized. The planned enrollment is 1,300 patients during the first study phase (2022–2024). Clinical, biochemical, and imaging data from diagnosis, treatment, and follow-up during 1980–2023 were retrospectively reviewed. For patients who agreed to participate in the prospective cohort, clinical data and biospecimens will be prospectively collected to discover ideal biomarkers that predict the effectiveness of disease control measures and prognosis. Patient-reported outcomes, including quality of life and depression scales, will be evaluated to assess psychosocial outcomes. Additionally, a substudy on CAH patients will develop a steroid hormone profiling method using liquid chromatography-tandem mass spectrometry to improve diagnosis and monitoring of treatment outcomes. This study will address unmet clinical needs by discovering ideal biomarkers, introducing evidence-based treatment guidelines, and ultimately improving long-term outcomes in the areas of rare endocrine and metabolic diseases.

Rare endocrine diseases are complex conditions that require lifelong specialized care due to their chronic nature and associated long-term complications. In Korea, a lack of nationwide data on clinical practice and outcomes has limited progress in patient care. Therefore, the Multicenter Networks for Ideal Outcomes of Pediatric Rare Endocrine and Metabolic Disease (OUTSPREAD) study was initiated. This study involves 30 centers across Korea. The study aims to improve the long-term prognosis of Korean patients with rare endocrine diseases by collecting comprehensive clinical data, biospecimens, and patient-reported outcomes to identify complications and unmet needs in patient care. Patients with childhood-onset pituitary, adrenal, or gonadal disorders, such as craniopharyngioma, congenital adrenal hyperplasia (CAH), and Turner syndrome were prioritized. The planned enrollment is 1,300 patients during the first study phase (2022–2024). Clinical, biochemical, and imaging data from diagnosis, treatment, and follow-up during 1980–2023 were retrospectively reviewed. For patients who agreed to participate in the prospective cohort, clinical data and biospecimens will be prospectively collected to discover ideal biomarkers that predict the effectiveness of disease control measures and prognosis. Patient-reported outcomes, including quality of life and depression scales, will be evaluated to assess psychosocial outcomes. Additionally, a substudy on CAH patients will develop a steroid hormone profiling method using liquid chromatography-tandem mass spectrometry to improve diagnosis and monitoring of treatment outcomes. This study will address unmet clinical needs by discovering ideal biomarkers, introducing evidence-based treatment guidelines, and ultimately improving long-term outcomes in the areas of rare endocrine and metabolic diseases.

Rare endocrine diseases are complex conditions that require lifelong specialized care due to their chronic nature and associated long-term complications. In Korea, a lack of nationwide data on clinical practice and outcomes has limited progress in patient care. Therefore, the Multicenter Networks for Ideal Outcomes of Pediatric Rare Endocrine and Metabolic Disease (OUTSPREAD) study was initiated. This study involves 30 centers across Korea. The study aims to improve the long-term prognosis of Korean patients with rare endocrine diseases by collecting comprehensive clinical data, biospecimens, and patient-reported outcomes to identify complications and unmet needs in patient care. Patients with childhood-onset pituitary, adrenal, or gonadal disorders, such as craniopharyngioma, congenital adrenal hyperplasia (CAH), and Turner syndrome were prioritized. The planned enrollment is 1,300 patients during the first study phase (2022–2024). Clinical, biochemical, and imaging data from diagnosis, treatment, and follow-up during 1980–2023 were retrospectively reviewed. For patients who agreed to participate in the prospective cohort, clinical data and biospecimens will be prospectively collected to discover ideal biomarkers that predict the effectiveness of disease control measures and prognosis. Patient-reported outcomes, including quality of life and depression scales, will be evaluated to assess psychosocial outcomes. Additionally, a substudy on CAH patients will develop a steroid hormone profiling method using liquid chromatography-tandem mass spectrometry to improve diagnosis and monitoring of treatment outcomes. This study will address unmet clinical needs by discovering ideal biomarkers, introducing evidence-based treatment guidelines, and ultimately improving long-term outcomes in the areas of rare endocrine and metabolic diseases.

Background: Micropigmentation is a medical tattooing procedure in which pigments are implanted into the superficial dermis using a manual or electrically driven needle. Objective: We aimed to assess the benefit and risk of micropigmentation in the treatment of acral vitiligo refractory to the conventional treatment. Methods: An open-label study was conducted from December 2018 to March 2019. A total of 12 patients with 20 acral vitiligo lesions were treated with micropigmentation using an electric tattooing machine. The micropigmentation treatment was repeated for a few sessions to achieve optimal pigmentation. Color matching between the lesion and peri-lesional skin was assessed using a 4-point grading scale (poor, fair, good, and excellent). Results: Overall, 85% (17 of 20) showed excellent color matching after a median of 2 (range: 1∼5) treatment sessions. The post-treatment color was darker than the surrounding skin immediately after the procedure, but it gradually faded over time. Pain during the procedure was not mild, but local anesthetic injection was not required. Post-treatment erythema and swelling occurred, but they resolved within a few days. No allergic reaction to the pigment or koebnerization of the vitiligo was noted. Conclusion Micropigmentation could be a promising treatment option for refractory acral vitiligo. A few treatment sessions (i.e., retouch) may be required for desired outcomes. The crucial parts of micropigmentation are pigment selection and implantation depth. It does not require injection of local anesthetics and provides immediate treatment effects after the procedure.

BACKGROUND: As nonsurgical interventions for vitiligo are not always successful, various surgical modalities have been used in patients with refractory vitiligo. Of these, non-cultured epidermal suspension transplantation (NCES) was recently introduced to treat large recipient sites using cells from small donor tissue. OBJECTIVE: We assessed the effectiveness and safety of NCES as a surgical treatment for patients with refractory vitiligo. METHODS: We retrospectively reviewed 20 cases in 17 patients (11 females; median age 25 years) who underwent NCES from July 2015 through March 2018. Suction blisters (20 mm in diameter) were collected from the patient's inner thigh at a donor-to-recipient area ratio of 1:5. After the addition of 5 mL recombinant trypsin solution to the suction blisters, followed by incubation at 37℃ for 60 min, epidermal cells were manually scraped off the blister surface, and epidermal cell suspension was obtained by centrifugation at 1,500 RPM for 5 min. The suspension was applied to the vitiligo regions after epidermal ablation of those regions. Phototherapy resumed 1 month later. Treatment success was defined as ≥75% repigmentation of the surgical site, and all adverse events were noted. RESULTS: Overall, 85.0% of cases (17/20) exhibited treatment success. Adverse events included hyperpigmentation (20%) and surgical site infection (5%), but the treatment was tolerable in all cases. CONCLUSION: NCES is a reliable surgical option for patients with vitiligo refractory to nonsurgical treatment. Large areas of vitiligo can be treated by NCES, and use of this technique should be encouraged in Korea.
Blister* ; Centrifugation ; Female ; Humans ; Hyperpigmentation ; Korea ; Phototherapy ; Retrospective Studies* ; Suction* ; Surgical Wound Infection ; Thigh ; Tissue Donors ; Transplantation ; Trypsin ; Vitiligo*

Vitiligo is a commonly acquired cutaneous depigmentation disorder that affects 0.5~1% of the population worldwide. While phototherapy is the primary treatment for vitiligo, surgical methods can be used for treating patients who are refractory to conventional treatments. Herein, we present the case of a 14-year-old Korean girl who developed vitiligo after hematopoietic stem cell transplantation for the treatment of acute lymphoblastic leukemia. She had multiple depigmented patches on her lower legs that did not respond to narrow-band ultraviolet B phototherapy for 7 months. The depigmented patches were successfully treated by transplantation of non-cultured epidermal cell suspension from the epidermal roof of the suction blister in the right inner thigh. No adverse event, such as secondary infection or scarring in both the donor and recipient sites, was noted. We recommended that non-cultured epidermal cell suspension transplantation using the suction blister method would be a safe and effective option for the treatment of refractory vitiligo.
Adolescent ; Blister* ; Cicatrix ; Coinfection ; Female ; Hematopoietic Stem Cell Transplantation ; Humans ; Leg ; Methods* ; Phototherapy ; Precursor Cell Lymphoblastic Leukemia-Lymphoma ; Suction* ; Thigh ; Tissue Donors ; Vitiligo*

Ginsenosides, one of the active ingredients of Panax ginseng, show various pharmacological and physiological effects, and they are converted into compound K (CK) or protopanaxatriol (M4) by intestinal microorganisms. CK is a metabolite derived from protopanaxadiol (PD) ginsenosides, whereas M4 is a metabolite derived from protopanaxatriol (PT) ginsenosides. The gamma-aminobutyric acid receptorC (GABAC) is primarily expressed in retinal bipolar cells and several regions of the brain. However, little is known of the effects of ginsenoside metabolites on GABAC receptor channel activity. In the present study, we examined the effects of CK and M4 on the activity of human recombinant GABAC receptor (rho1) channels expressed in Xenopus oocytes by using a 2-electrode voltage clamp technique. In oocytes expressing GABAC receptor cRNA, we found that CK or M4 alone had no effect in oocytes. However, co-application of either CK or M4 with GABA inhibited the GABA-induced inward peak current (IGABA). Interestingly, pre-application of M4 inhibited IGABA more potently than CK in a dose-dependent and reversible manner. The half-inhibitory concentration (IC50) values of CK and M4 were 52.1+/-2.3 and 45.7+/-3.9 microM, respectively. Inhibition of IGABA by CK and M4 was voltage-independent and non-competitive. This study implies that ginsenoside metabolites may regulate GABAC receptor channel activity in the brain, including in the eyes.
Brain ; Eye ; gamma-Aminobutyric Acid ; Ginsenosides ; Humans ; Oocytes ; Panax ; Retinal Bipolar Cells ; RNA, Complementary ; Sapogenins ; Xenopus

Seborrheic keratoses are the most common benign epidermal tumor of the skin and a frequent focus of patient concern because of their variable appearance. Seborrheic keratoses may arise on any non-mucosal surface, including the face, scalp, and trunk. However, it rarely occurs on the ear, especially on the scapha. We report a case of a 42 year-old female patient presenting with 1 cm, brownish pedunculated nodule of seborrheic keratosis on the scapha.
Ear ; Ear Auricle ; Female ; Humans ; Keratosis, Seborrheic ; Scalp ; Skin