Background: Chronic eosinophilic leukemia (CEL) is a rare, slowly progressive hematologic malignancy characterized by clonal proliferation of eosinophils in the bone marrow due to underlying genetic mutations. Persistent eosinophilia (>1.5 x 10⁹/L) for 1–6 months is a key diagnostic criterion. The presence of the FIP1L1::PDGFRA fusion gene and increased blast or abnormal cells in the bone marrow further supports the diagnosis. Case presentation: A 63-year-old male presented with symptoms of dry skin, pruritus, skin rash, enlargement of cervical, axillary, and inguinal lymph nodes, headache, and edema. According to the medical history, the disease began 4 years earlier with pruritus in the lower legs and progressed over the past 2 years with worsening skin rash. Complete blood count revealed eosinophilia of 48.6%. Based on leukogram, myelogram, skin histopathology, and cytogenetic analysis performed in China, a diagnosis of chronic eosinophilic leukemia was established. The patient responded well to treatment with imatinib and hydroxycarbamide. Conclusion Clinical manifestations of chronic eosinophilic leukemia are often nonspecific and may be misdiagnosed as dermatological conditions. Therefore, cytogenetic analysis (including FISH), leukogram, myelogram, and skin histopathological examination play a crucial role in accurate diagnosis.

Background: Hidradenitis suppurativa (HS) is a chronic, recurrent inflammatory disorder of the hair follicle that predominantly affects areas rich in apocrine sweat glands, such as the axillae and groin. Clinically, it is characterized by painful nodules, abscess formation, sinus tract development, and scarring. Diagnosis is primarily based on clinical findings; however, due to limited awareness of the disease, it is often diagnosed at a late stage. Misdiagnosis and inappropriate management are common, leading to chronic disease progression. Consequently, HS significantly impairs quality of life through reduced work capacity, psychological distress, and social isolation. Disease severity is commonly assessed using the Hurley staging system and the Sartorius scoring system. We present a rare case of hidradenitis suppurativa encountered in dermatological practice. Case presentation A 35-year-old male patient (initials L.B.) presented with recurrent, painful lesions in both axillary regions associated with purulent discharge. The condition had persisted over a prolonged period with repeated exacerbations. The patient had attempted self-treatment at home without improvement and was subsequently admitted to the Department of Dermatology at the National Center for Dermatology with a diagnosis of DS: L73.2 (hidradenitis suppurativa). The patient was treated with systemic antibiotics (doxycycline and cefazolin), retinoids, supportive therapy, and topical treatment. In addition, intralesional triamcinolone injections were administered into active nodules, which proved effective in rapidly reducing inflammation, pain, and purulent discharge.

Background: Senear-Usher Syndrome, also known as pemphigus erythematosus, is a rare autoimmune blistering skin disease characterized by overlapping clinical, histopathological, and immunological features of both lupus erythematosus and pemphigus foliaceus. Case Presentation: We report the case of a 46-year-old male diagnosed with Senear-Usher Syndrome, who presented to the outpatient clinic of the National Dermatology Center of Mongolia and received inpatient treatment. Diagnosis: The patient exhibited diffuse, thick, pale gray scales and yellowish crusts on the scalp. Multiple brown hyperpigmented macules of various shapes and sizes, vivid erythema, and a few erosions were observed on the nose, cheeks, trunk, and upper and lower extremities. A few pea-sized vesicles containing clear fluid were scattered on the back. Nikolsky's sign was weakly positive, and Besnier-Meshchersky's sign was positive. Histopathology: Histopathological analysis of skin biopsies revealed hyperkeratosis, parakeratosis, and acanthosis in the epidermis. Subcorneal cleft formation with neutrophils within the cleft was noted, along with perivascular infiltration of neutrophils and lymphohistiocytes in the superficial dermis. Treatment: The patient received treatment with hydroxychloroquine, systemic and topical corticosteroids, and symptomatic therapy. Outcome: Following treatment, the patient's general condition improved significantly. The erosions re-epithelialized, and the vesicles resolved, leaving behind brown hyperpigmented macules. The patient is currently under regular follow-up by a dermatologist and a family physician. Conclusion Senear-Usher Syndrome is a rare disease with a high potential for misdiagnosis. Therefore, an accurate diagnosis relies on a comprehensive evaluation of clinical features, histopathological examination, and direct and indirect immunofluorescence studies.

Background: Linear IgA bullous dermatosis (LABD) is a rare autoimmune blistering disease characterized by linear deposition of immunoglobulin A along the subepidermal basement membrane zone. Although it can occur in both children and adults, the disease in pediatric patients often requires careful consideration due to challenges in differential diagnosis and variability in treatment response. Dapsone is considered the first-line treatment; however, in some cases it may be unavailable, contraindicated, or associated with adverse effects, necessitating alternative therapeutic options. Case Presentation In this case report, we present the clinical features, diagnostic findings, treatment course, and outcomes of a 9-year-old girl diagnosed with LABD. The combination of colchicine and systemic corticosteroids resulted in marked clinical improvement, suggesting that this regimen may be a potential alternative treatment for LABD.

Background: Mongolia’s geographical characteristics limit access to specialist healthcare for residents of remote soums, resulting in out-of-pocket expenditure, substantial travel time, and reliance on accompanying family members. To address these barriers, the store-and-forward “Derma” application was introduced progressively across 334 soums between 2017 and 2020. Nevertheless, challenges persist in sustaining its operation and embedding it in routine clinical practice. Aim: To explore soum doctors’ experiences with the “Derma” application and identify factors influencing the sustainability of teledermatology services. Materials and Methods: Focus group interviews were conducted in seven aimags between December 2019 and June 2020. A pilot interview with eight doctors in Sukhbaatar aimag informed the development of a semi-structured interview guide. Written interview records underwent directed content analysis guided by Donabedian’s structure–process–outcome framework. Response frequencies were interpreted at group and participant levels, accounting for variation in the number answering each question. The analysis examined service interruptions and organisational requirements for sustainability, incorporating recurrent themes, emerging concerns, and critical perspectives on technology use. Ethical approval and written informed consent were obtained. Results: Overall, 98.1% (52/53) of participants reported difficulty diagnosing and treating skin diseases locally. Among respondents to the relevant questions, 85.4% (41/48) considered the application helpful, 95.8% (46/48) perceived little difference in quality between remote and in-person care, and 89.6% (43/48) reported learning benefits. Most participants reported no increase in workload (94.3%; 50/53). Mean case submission time was 9.67±4.42 minutes; the reported specialist response time was 2.5 days (range: 1–14). Barriers included mobile network limitations in five aimags, difficulties obtaining recommended medicines in six, and personal expenditure of 8,000 MNT per month on mobile data among doctors in three aimags. A small number of accounts highlighted the need for standardised response times, access for all doctors, technical maintenance, dedicated data funding, medicine availability, and secure communication channels. Conclusion Soum doctors perceived teledermatology as supporting specialist consultation, continuing professional learning, and healthcare access. Its sustained adoption was constrained by workforce instability and inadequate infrastructural, financial, and organisational support.

Background: Spinal muscular atrophy (SMA) is a degenerative neuromuscular disease that causes progressive muscle weakness and atrophy due to the loss of the motor neurons. Approximately 95% of patients with SMA are homozygous for the deletion of SMN1 exon 7. With an incidence of 1/10.000 and a carrier frequency of 1/40 to 1/50, SMA is the most common genetic cause of death in infants. Purpose: To detect homozygous deletion of SMN1 exon 7 and to analyse the SMN1 copy number by molecular genetic analysis. Materials and Methods: In this study, 3 SMA patients with SMN1 gene homozygous deletion and 17 people of their relatives were included. Molecular genetic analysis was performed in the Central Scientific Research Laboratory of the Institute of Medical Sciences. DNA was extracted from peripheral blood, and its purity was assessed by spectrophotometer. Homozygous deletion of SMN1 gene was analyzed with allele-specific PCR, and the SMN1 gene copy number was evaluated by real-time PCR. Results: Among the five participants diagnosed with SMA by clinical symptom and electromyographic test, three cases were found to have homozygous deletion of exon 7 of the SMN1 gene, while two cases did not exhibit such mutation by the allele specific PCR analysis.
The mean age of study participants was 27.76±16.07 (ranging from 8 months to 52 years). Six of the 7 relatives of the first proband had 1 copy number of SMN1 (0.75±0.29) or were carriers of SMA, while one had 3 copy numbers (2.99) or no deletion of SMN1 gene. Additionally, 6 of the 7 individuals of the second proband had 1 copy number of the SMN1 gene (0.72±0.14), and 1 person had 2 copy numbers. All 3 relatives of the third proband had 1 copy number of SMN1 gene (0.96±0.37). Conclusion We consider that determination of SMN1 gene homozygous deletion and carrier testing can be performed by the PCR method locally. Further, it is necessary to implement the molecular genetic testing method into practice and to study the requirements and needs of early detection of SMA in the newborn screening program of Mongolia.

Background: Spinal Muscular Atrophy (SMA), an autosomal recessive disorder characterized by lower motor neuron loss, leads to progressive muscle weakness and atrophy. With a neonatal incidence ranging from 1:6000 to 1:11000, individuals affected by SMA face challenges in locomotor function. The advent of newborn screening tests, early diagnostic techniques, and the introduction of gene therapy have, however, shown promise in enabling the acquisition of these motor skills. Objective: This review article seeks to shed a light on current understandings of the epidemiology, clinical presentations, diagnostic methods, and treatments for spinal muscular atrophy, highlighting cutting edge approaches within the discipline. Methods: A thorough search was conducted on PubMed, Cochrane, National Institutes of Health, and Web of Science databases for recent research articles concerning SMA’s incidence, prevalence, clinical manifestations, early detection, genetic testing and contemporary gene therapy. Results: The prevalence of SMA stands at 1-2 cases per 100,000 population, with an incidence of approximately 8 cases per 100,000 live births. Pre-1995 studies exhibited varying prevalence rates due to using non molecular-biological methods, small localized populations, diagnostic errors, and regional characteristics. Diagnosis involving Multiplex ligation-dependent probe amplification (MLPA), quantitative polymerase chain reaction (qPCR), or next-generation sequencing (NGS) analysis to confirm SMN1 and SMN2 gene status aids in identifying carriers and SMA subtypes. Countries implementing newborn screening programs have demonstrated early SMA detection in asymptomatic newborns, contributing to reduced mortality and disability rates. Currently, several types of gene therapy are being used in the treatment of SMA. Conclusion The epidemiology of SMA varies between countries and regions. It is fully possible to confirm the disease, identify carriers and subtypes. The inclusion of SMA in newborn early detection programs is crucial for reducing infant mortality and disability, and several gene therapies have received approval from relevant authorities for SMA treatment. In Mongolia, it is possible to introduce tests to confirm the disease and determine carriers and subtypes.

Background: Stroke is one of the leading causes of mortality and disability worldwide. Understanding sex differences in risk factors, clinical characteristics and death after stroke might provide valuable evidence for prevention and management of stroke. Aim: We aimed to describe sex differences in risk factors, clinical characteristics and death after intracerebral hemorrhage (ICH) and ischemic stroke (IS) using hospital-based registry in 6 districts of Ulaanbaatar, Mongolia. Materials and methods: We used hospital-based stroke registry in Ulaanbaatar Mongolia. From 2019 to 2020, total of 974 patients with acute ICH and 1612 patients with acute IS were enrolled in this study. The severity of stroke was measured by National Institutes of Health Stroke Scale (NIHSS) and Glasgow Coma Scale (GCS). Risk factors for stroke were defined as patient’s history and their medical record. Death after stroke was registered at 28 days and 90 days by follow-up study. A comparison of categorical and continuous variables was analyzed using chi-squared test, Student’s t-test and Mann Whitney U test. Univariable and multivariable logistic regression analyses were also performed. Results: The mean age of ICH patients was 58.41±11.56. There was significant difference in age (59 vs 57, p=0.009) between women and men. Men with ICH were more likely to drink alcohol (35.4% vs 5.2%, p=0.000) and to smoke (37.0% vs 8.4%, p=0.000) and to have arterial hypertension (72.7% vs 58.6%, p=0.000). However, there were no significant differences in other risk factors including atrial fibrillation, diabetes mellitus, prior stroke and other cardiac diseases. There were no sex differences in clinical characteristics including systole and diastole blood pressure, NIHSS scores and GCS. In our study, case fatality rate was 23.8% at 28 days and 1.9% at 90 days after ICH. By multivariable regression analyses, there were no significant association between sex and death at 28 days and at 90 days (OR:0.74; 95% CI:0.52-1.06, OR: 0.80; 95% CI:0.29-2.21).
The mean age of IS patients was 61.07±12.88. The women were older (63 vs 59, p=0.000) than men. Men with IS also were more likely to be current smokers (37.6% vs 9.0%, p=0.000), current drinkers (33.2% vs 3.4%, p=0.000) and to have arterial hypertension (74.7% vs 65.9%, p=0.000). There were no significant differences in other risk factors. For IS patients, there also was no sex difference in clinical characteristics. Case fatality rate was 13.3% at 28 days and 1.1% at 90 days after IS. By multivariable regression analyses, there were no significant association between sex and death at 28 days and at 90 days (OR:0.90; 95%CI: 0.64-1.26, OR:5.16; 95%CI: 0.99-23.9). Conclusion Our study showed sex differences in some vascular factors of both stroke subtypes which emphasized that we need to implement stroke prevention targeting sex-specific risk factors. While clinical characteristics and early mortality of intracerebral hemorrhage and ischemic stroke were not differed by gender.

Background: Globally the incidence of stroke is not decreasing, and the deaths and disabilities caused by stroke is increasing every year, especially in low and low-middle income countries.
Long-term trends in stroke incidence in different populations have not been well characterized, largely as a result of the complexities associated with population-based stroke surveillance.
Having reliable data on stroke morbidity and mortality, as well as periodic identification of long-term trends will be important information for proper prevention planning in the population, monitoring the disease and further improving the quality of health care. Material and Method: A prospective cohort study has been conducted in adult citizens (972409 in 2019, 925367 in 2020) of 6 districts of Ulaanbaatar from the 1st of January, 2019 to 31st of December, 2020. All first-ever and recurrent stroke cases were included using special software, developed for stroke registry, based on the WHO STEPS approach from participating radiology departments of state hospitals, district hospitals, and some private hospitals. Information of stroke death was obtained from forensic institute and state registration office of the capital city.
The trends of stroke incidence and mortality was compared to data between 1998-1999 and 2019- 2020 in UB. Results: The age-standardized crude incidence rate per 100.000 person-years of stroke were 209.0/100.000 (n=1934) in 2019 and 194.0/100.000 (n=1821) in 2020 among adults of UB city. The above results were compared to 1998-1999 studies and the incidence rate declined by 94.0/100.000 in 2019-2020, whereas mortality rate increased by 10.0/100.000 in women aged 16-34. Stroke mortality was 11.6% in 1998 and 26.5% in 1999, while in our study it was 33.87% in 2019 and 29.71% in 2020. Although the incidence of stroke rates has decreased in 1998-1999, the mortality rate has not decreased significantly. Conclusion Morbidity and mortality rates among the population of Ulaanbaatar citizen remain highest in the world, compared to 20 years ago with overall morbidity declining but mortality has not decreased.
In recent years, the Government of Mongolia has been focused on reducing non-communicable diseases, but the primary and secondary prevention and control of stroke in the general population, as well as the acquisition of knowledge attitudes, practices and access to health care still need to be improved.

Background: Stroke is still one of the leading causes of morbidity and mortality worldwide. Registry-based data of stroke are scarce in low and middle-income countries such as Mongolia. We aimed to investigate the incidence and mortality of stroke in adult population of UB Mongolia by stroke registration method. Material and Method: Covering 611265 (≥15 years old) adult citizens of three districts of Ulaanbaatar, a population-based prospective study was done from the first, January of 2019 to 31st, December of 2019. All first-ever and recurrent stroke cases were included using special software, developed for stroke registry, based on the WHO STEPS approach from participating radiology departments of state hospitals, district hospitals, and family clinics. Information of stroke death was obtained from forensic institute and state registration office of the capital city. Results : In a 1-year study period, 1068 (women 39.1%) stroke cases were registered in people with 60.16±13.66 years old. Stroke incidence rate was 169.81/100000 including first-ever and recurrent events. Stroke incidence rate was higher in men and people with 80 and above years old. The ratio between IS and ICH was 1.14:1.0. Stroke mortality was 27.1% and mortality rate was 45.94/100000. The highest rate mortality was in ICH subtype, male population and older people. Conclusion We identified relatively high incidence and mortality rate of stroke in ICH indicating an urgent need for improvement of arterial hypertension control, health education and primary prevention mainly among men.