Neurogenetics. 2025 Apr 3;26(1):41. doi: 10.1007/s10048-025-00822-x.

ABSTRACT

Neurodevelopmental, jaw, eye, and digital syndrome (NEDJED) is a rare autosomal dominant condition that has demonstrated diverse phenotypes. This is the second case report published on this condition, covering the disease history of an 8 year old patient with a severe manifestation of the disease. The patient was born with hydrocephalus, and demonstrated major developmental delay as he aged. Whole-genome sequencing of the patient and his parents was conducted, detecting a de novo variant, NM_001378974.1:c.1220 A > T [p.Lys407Ile], located in the conserved WD4 region of the WD40 domain of FBXW11, which is consistent with all previously reported patients. The phenotype of the patient is presented with a focus on MRI and EEG features, including images and detailed description for both. While the patient's phenotype is overall consistent with previous findings, there are a number of major factors we believe are caused by the FBXW11 variant that have not been previously described, such as the patient's complete inability to walk.

PMID:40178747 | DOI:10.1007/s10048-025-00822-x

Brain Commun. 2025 Mar 17;7(2):fcaf113. doi: 10.1093/braincomms/fcaf113. eCollection 2025.

ABSTRACT

Somatic mosaic variants contribute to focal epilepsy, with variants often present only in brain tissue and not in blood or other samples typically assayed for genetic testing. Thus, genetic analysis for mosaic variants in focal epilepsy has been limited to patients with drug-resistant epilepsy who undergo surgical resection and have resected brain tissue samples available. Stereo-EEG (sEEG) has become part of the evaluation for many patients with focal drug-resistant epilepsy, and sEEG electrodes provide a potential source of small amounts of brain-derived DNA. We aimed to identify, validate, and assess the distribution of deleterious mosaic variants in epilepsy-associated genes in DNA extracted from trace brain tissue on individual sEEG electrodes. We enrolled a prospective cohort of 10 paediatric patients with drug-resistant epilepsy who had sEEG electrodes implanted for invasive monitoring. We extracted unamplified DNA and in parallel performed whole-genome amplification from trace brain tissue on each sEEG electrode. We also extracted DNA from resected brain tissue and blood/saliva samples where available. We performed deep sequencing (panel and exome) and analysis for candidate germline and mosaic variants. We validated candidate mosaic variants and assessed the variant allele fraction in amplified and unamplified electrode-derived DNA and across electrodes. We extracted unamplified DNA and performed whole-genome amplification from >150 individual electrodes from 10 individuals. Immunohistochemistry confirmed the presence of neurons in the brain tissue on electrodes. Deep sequencing and analysis demonstrated similar depth of coverage between amplified and unamplified DNA samples but significantly more potential mosaic variants in amplified samples. We validated four deleterious mosaic variants in epilepsy-associated genes in electrode-derived DNA in three patients who underwent laser ablation and did not have resected brain tissue samples available. Three of the four variants were detected in both amplified and unamplified electrode-derived DNA, with higher variant allele fraction observed in DNA from electrodes in closest proximity to the electrical seizure focus in one case. We demonstrate that mosaic variants can be identified and validated from DNA extracted from trace brain tissue on individual sEEG electrodes in patients with drug-resistant focal epilepsy, from both unamplified and amplified electrode-derived DNA. Our findings support a relationship between the extent of regional genetic abnormality and electrophysiology and suggest that with further optimization, this minimally invasive diagnostic approach holds promise for advancing precision medicine for patients with drug-resistant epilepsy as part of the surgical evaluation.

PMID:40177531 | PMC:PMC11961356 | DOI:10.1093/braincomms/fcaf113

Am J Ophthalmol. 2025 Mar 31:S0002-9394(25)00162-X. doi: 10.1016/j.ajo.2025.03.043. Online ahead of print.

ABSTRACT

OBJECTIVE: Neurotrophic keratopathy (NK) is a rare disease characterized by the loss of corneal innervation and increased vulnerability to injury. The diagnosis and treatment of NK can be challenging for pediatric patients and their caregivers. This study explores the experiences of caregivers navigating the diagnostic and treatment journey of pediatric patients with neurotrophic keratopathy.

DESIGN: This study is a qualitative study using semi-structured interviews.

SUBJECTS: Ten caregivers of pediatric patients with NK who had undergone corneal neurotization (CN) surgery.

METHODS: Caregivers were interviewed about their experiences related to the diagnostic process, treatment challenges, lifestyle changes, and the impact of CN surgery. Interviews were recorded, transcribed, and analyzed using an inductive-deductive approach to identify recurring themes.

MAIN OUTCOMES: Caregiver experiences and perceptions of diagnostic delays, information-seeking behaviors, lifestyle changes, and the effects of CN surgery on corneal health and quality of life.

RESULTS: Five key themes emerged from the analysis: (1) Delays in diagnosis due to insufficient specialist knowledge; (2) Caregivers' proactive efforts in seeking information; (3) Substantial lifestyle changes required by NK; (4) The impact of CN surgery on corneal health and quality of life; and (5) Variability in healthcare experiences, highlighting the need for effective communication. Caregivers expressed frustration with diagnostic delays and highlighted their reliance on external support networks.

CONCLUSIONS: This study illustrates the need for enhanced awareness among clinicians about NK and the benefits of narrative medicine in fostering caregiver-provider relationships. The challenges reported by families navigating NK inform strategies that may improve diagnosis and treatment of NK.

PMID:40174715 | DOI:10.1016/j.ajo.2025.03.043

Pediatr Blood Cancer. 2025 Apr 2:e31697. doi: 10.1002/pbc.31697. Online ahead of print.

ABSTRACT

Parents of children with complex vascular anomalies (VAs) struggle to locate credible information. We explored whether their perceptions of the adequacy of VA-related information were associated with caregiver burden, anxiety, child health, and their ability to navigate the healthcare system and seek information. We also examined how their perceptions of clinician knowledge and communication affect their perceptions of information adequacy. A total of 86 parents completed our online survey. Perceived information adequacy was associated with lower anxiety, greater ability to navigate the healthcare system, greater clinician knowledge, and better clinician communication. These data identify important communication barriers that future research studies should address.

PMID:40172173 | DOI:10.1002/pbc.31697

Orphanet J Rare Dis. 2025 Apr 1;20(1):150. doi: 10.1186/s13023-025-03656-w.

ABSTRACT

Diagnosing rare diseases is challenging due to their low prevalence, diverse presentations, and limited recognition, often leading to diagnostic delays and errors. This study evaluates the effectiveness of multiple large language models (LLMs) in identifying rare diseases, comparing their performance with that of human physicians using real clinical cases. We analyzed 152 rare disease cases from the Chinese Medical Case Repository using four LLMs: ChatGPT-4o, Claude 3.5 Sonnet, Gemini Advanced, and Llama 3.1 405B. Overall, the LLMs performed better than human physicians, and Claude 3.5 Sonnet achieved the highest accuracy at 78.9%, significantly surpassing the accuracy of human physicians, which was 26.3%. These findings suggest that LLMs can improve rare disease diagnosis and serve as valuable tools in clinical settings, particularly in regions with limited resources. However, further validation and careful consideration of ethical and privacy issues are necessary for their effective integration into medical practice.

PMID:40165285 | DOI:10.1186/s13023-025-03656-w

bioRxiv [Preprint]. 2025 Mar 14:2025.03.12.642857. doi: 10.1101/2025.03.12.642857.

ABSTRACT

Therapeutic strategies for Duchenne Muscular Dystrophy (DMD) will likely require complementary approaches. One possibility is to explore genetic modifiers that improve muscle regeneration and function. The beneficial effects of the overexpression of Jagged-1 were described in escaper golden retriever muscular dystrophy (GRMD) dogs that had a near-normal life and validated in dystrophin-deficient zebrafish (1). To clarify the underlying biology of JAG1 overexpression in dystrophic muscles, we generated a transgenic mouse (mdx5cv-JAG1) model that lacks dystrophin and overexpresses human JAG1 in striated muscles. Skeletal muscles from mdx5cv-JAG1 and mdx5cv mice were studied at one, four, and twelve-month time points. JAG1 expression in mdx5cv-JAG1 increased by three to five times compared to mdx5cv. Consequently, mdx5cv-JAG1 muscles were significantly bigger and stronger than dystrophic controls, along with an increased number of myofibers. Proteomics data show increased dysferlin in mdx5cv-JAG1 muscles and an association of Nsd1 with the phenotype. Our data supports the positive effect of JAG1 overexpression in dystrophic muscles.

PMID:40161820 | PMC:PMC11952387 | DOI:10.1101/2025.03.12.642857

Echocardiography. 2025 Apr;42(4):e70142. doi: 10.1111/echo.70142.

ABSTRACT

Left main coronary artery atresia (LMCAA) is a rare congenital coronary anomaly and sometimes presents with non-specific clinical symptoms that make the diagnosis challenging. We are presenting an interesting case that required multimodality imaging to establish the diagnosis.

PMID:40159450 | DOI:10.1111/echo.70142

Bull Cancer. 2025 Mar;112(3S1):3S107-3S116. doi: 10.1016/S0007-4551(25)00164-X.

ABSTRACT

In Europe, a rare cancer is defined as having an incidence rate of less than 6/100,000. Rare lung cancers encompass many entities defined by the 2021 WHO classification of thoracic tumors, and represent around 10% of all lung cancers. Rare lung cancers involve several histological types (carcinoma, sarcoma and lymphoma), each of which comprises several entities. The management of these patients with rare cancers requires specific medical expertise at every level (diagnosis, treatment and follow-up). These patients should therefore be referred to expert centers affiliated with national networks, giving them appropriate care and better access to innovative treatments. The deployment of systematic molecular characterization of these tumors has allowed for the identification and better characterization of specific entities. Some entities are specific to the lung, while others are more commonly found in other organs. In this review, we will only consider malignant lung tumors with an incidence of less than 1%.

PMID:40155070 | DOI:10.1016/S0007-4551(25)00164-X

PLoS One. 2025 Mar 28;20(3):e0304540. doi: 10.1371/journal.pone.0304540. eCollection 2025.

ABSTRACT

The primary objective is to identify which observational research methods have been used in the last 5 years in rare disease drug evaluation and how they are applied to generate adequate evidence regarding the real-world effectiveness or safety of rare disease drugs. Rare disease is an umbrella term for a condition which affects < 200,000 people each year and despite the rarity of these conditions, collectively they encompass approximately 7000 different conditions. With the striking number of rare conditions, many pharmaceutical manufacturers are introducing an increased number of drugs to treat them. However, due to small patient populations, heterogeneity and other factors related to rare diseases, there are feasibility concerns regarding the generation of adequate efficacy and safety evidence using conventional randomized controlled trials (RCTs). Recently, real-world evidence generated through observational (or real-world) studies has been proposed to address some of the feasibility concerns with RCTs by measuring drug effectiveness or safety in the real-world setting. However, there remain methodological concerns due to a lack of randomization/masking. This proposed scoping review aims to identify which observational research methods in the last 5 years are used in rare disease drug evaluation to address methodological concerns and how they are applied to generate evidence on drug effectiveness or safety. Articles must be primary observational or real-world studies reporting rare disease drug effectiveness or safety published within the five years preceding this review. Literature reviews, meta-analyses, randomized control trials, case series, case reports, opinion pieces, conference abstracts, and studies with unavailable full-text articles will be excluded. The search strategy will combine the following key search concepts: rare disease, drugs for rare disease and observational/real-world studies. The search will be conducted in MEDLINE and EMBASE. Review registration number: Open Science Framework, https://osf.io/f3wpv.

PMID:40153394 | DOI:10.1371/journal.pone.0304540

BMC Cancer. 2025 Mar 28;25(1):558. doi: 10.1186/s12885-025-13934-2.

ABSTRACT

BACKGROUND: Cancers affecting < 6/100,000/year are classified as rare, but they account for up to 25% of all cancers and are associated with worse 5-year survival than common cancers. Early-phase clinical trials (EPCTs) may represent a viable treatment option for patients with rare cancers as they have evolved significantly with novel designs and the increasing use of precision medicine.

METHODS: A retrospective study of patients with rare cancers referred to a large EPCT team at a UK specialist centre over 5 years (2016-2020) was conducted. Patient demographics, medical and oncological history, genomic variants, EPCT participation, responses and survival outcomes were analysed.

RESULTS: In total, 240 patients with rare cancers were included. The mean age at diagnosis was 51.7 years (range 16-84), 54.2% of the patients were female. The most frequent rare cancers originated from the digestive system (27.1%), female genital tract (20%) and head and neck (H + N) (18.3%). Molecular profiling was offered to 45.5% of the population, median number of gene alterations was 3 per patient (range 1-20) while actionable gene alterations were reported in 60.2% (n = 50) of those with identified gene aberrations. Fifty-one patients participated in EPCTs, with 39.2% achieving SD and 11.8% PR. Median PFS for trial participants was three months (95% CI 1.12 - 4.88) while median OS in the trial patients was 16 months (95% CI 9.10 - 22.90) compared to 7 months for non-trial participants (95% CI 5.50 - 8.51). Finally, poor Royal Marsden Hospital (RMH) prognostic score (2-3) was correlated with worse survival when controlling for age and sex (HR 1.714, 95% CI 1.19 - 2.46, p = 0.004).

CONCLUSIONS: Participation of patients with rare cancers in EPCTs may be associated with a survival benefit and lead to the development of new treatments for these patients. Moreover, expanded use of precision medicine is paramount as it can inform targeted treatment selection in this heterogenous group.

PMID:40148757 | DOI:10.1186/s12885-025-13934-2

Proc Natl Acad Sci U S A. 2025 Apr;122(13):e2420343122. doi: 10.1073/pnas.2420343122. Epub 2025 Mar 24.

ABSTRACT

Congenital heart disease (CHD) is a leading cause of infant mortality. We analyzed de novo mutations (DNMs) and very rare transmitted/unphased damaging variants in 248 prespecified genes in 11,555 CHD probands. The results identified 60 genes with a significant burden of heterozygous damaging variants. Variants in these genes accounted for CHD in 10.1% of probands with similar contributions from de novo and transmitted variants in parent-offspring trios that showed incomplete penetrance. DNMs in these genes accounted for 58% of the signal from DNMs. Thirty-three genes were linked to a single CHD subtype while 12 genes were associated with 2 to 4 subtypes. Seven genes were only associated with isolated CHD, while 37 were associated with 1 or more extracardiac abnormalities. Genes selectively expressed in the cardiomyocyte lineage were associated with isolated CHD, while those widely expressed in the brain were also associated with neurodevelopmental delay (NDD). Missense variants introducing or removing cysteines in epidermal growth factor (EGF)-like domains of NOTCH1 were enriched in tetralogy of Fallot and conotruncal defects, unlike the broader CHD spectrum seen with loss of function variants. Transmitted damaging missense variants in MYH6 were enriched in multiple CHD phenotypes and account for ~1% of all probands. Probands with characteristic mutations causing syndromic CHD were frequently not diagnosed clinically, often due to missing cardinal phenotypes. CHD genes that were positively or negatively associated with development of NDD suggest clinical value of genetic testing. These findings expand the understanding of CHD genetics and support the use of molecular diagnostics in CHD.

PMID:40127276 | DOI:10.1073/pnas.2420343122

J Am Podiatr Med Assoc. 2025 Jan-Feb;115(1):23-182. doi: 10.7547/23-182.

ABSTRACT

Osteolipoma is a rare lipoma variant characterized by mature osseus metaplasia within mature adipose tissue, most commonly found in the head and neck, and seldom reported in the extremities. We present a case of a large osteolipoma of the posterior ankle associated with antecedent trauma. These tumors are typically slow growing and can be associated with pain and stiffness, depending on tumor size and location. Treatment is surgical excision, and recurrence is not reported. Interdisciplinary care involving radiology, pathology, and the surgical service is necessary for proper diagnosis and treatment of this rare benign neoplasm.

PMID:40126985 | DOI:10.7547/23-182

J Pediatr Hematol Oncol. 2025 Apr 1;47(3):109-114. doi: 10.1097/MPH.0000000000003008. Epub 2025 Mar 24.

ABSTRACT

BACKGROUND: Congenital CD59 deficiency is a rare genetic disorder marked by chronic hemolysis, recurrent cerebrovascular events, and chronic inflammatory demyelinating polyneuropathy (CIDP). In a specific clinic, 3 siblings from a consanguineously married family were diagnosed with this condition, suggesting a genetic predisposition in their village where endogamous marriages are common.

MATERIALS AND METHODS: Genetic screening was conducted on 71 individuals from the village, including relatives of the diagnosed siblings, to investigate the prevalence and genetic transmission of the disorder.

RESULTS: The screening identified 18 carriers of the genetic mutation and revealed 2 additional siblings of the index patient with the disease. A past case of a cousin with a similar clinical history was also uncovered.

CONCLUSION: The findings highlight the increased risk of genetic disorders like CD59 deficiency in populations with frequent consanguineous marriages. The study underscores the importance of genetic counseling and preventive measures in such communities to mitigate the risk of congenital disorders.

PMID:40126046 | DOI:10.1097/MPH.0000000000003008

Orphanet J Rare Dis. 2025 Mar 22;20(1):141. doi: 10.1186/s13023-025-03619-1.

ABSTRACT

BACKGROUND: Chronic singultus lasting longer than one month is a rare disease. Due to its low prevalence, generating evidence about it is difficult. Patients with chronic diseases struggle with considerable restrictions in their quality of life. Chronic hiccups can lead to problems such as insomnia, anorexia, fatigue, exhaustion, weight loss, and depression. The aim of this study was to gain a better understanding of the quality of life of patients with chronic singultus and their experiences in contact with the healthcare system and with the general population.

METHODS: The data were collected using semi-structured interviews. The data analysis was carried out using qualitative structuring content analysis according to Kuckartz and Rädiker. Reliability was ensured by joint interprofessional evaluation of the interviews by experts, considering different perspectives.

RESULTS: Interviews from 20 patients with chronic singultus were analyzed. Analysis yielded 43 categories that could be assigned to five main topics. The disease burden of the patients was high. In addition to physical symptoms such as concomitant gastroenterological symptoms, shortness of breath, and fatigue, psychosocial consequences such as shame, social withdrawal, anxiety, depression, and even suicidality led to reduced quality of life.

CONCLUSIONS: Ignorance and helplessness among healthcare stakeholders in the case of chronic singultus could lead to a marginalization of the disease and patients. Referring patients to a center with the appropriate expertise can help to avoid underuse, overuse, or misuse of healthcare. Therefore, the awareness of the disease among stakeholders must raise.

PMID:40121512 | DOI:10.1186/s13023-025-03619-1

BMC Bioinformatics. 2025 Mar 22;26(1):87. doi: 10.1186/s12859-025-06105-4.

ABSTRACT

BACKGROUND: Computational approaches to support rare disease diagnosis are challenging to build, requiring the integration of complex data types such as ontologies, gene-to-phenotype associations, and cross-species data into variant and gene prioritisation algorithms (VGPAs). However, the performance of VGPAs has been difficult to measure and is impacted by many factors, for example, ontology structure, annotation completeness or changes to the underlying algorithm. Assertions of the capabilities of VGPAs are often not reproducible, in part because there is no standardised, empirical framework and openly available patient data to assess the efficacy of VGPAs-ultimately hindering the development of effective prioritisation tools.

RESULTS: In this paper, we present our benchmarking tool, PhEval, which aims to provide a standardised and empirical framework to evaluate phenotype-driven VGPAs. The inclusion of standardised test corpora and test corpus generation tools in the PhEval suite of tools allows open benchmarking and comparison of methods on standardised data sets.

CONCLUSIONS: PhEval and the standardised test corpora solve the issues of patient data availability and experimental tooling configuration when benchmarking and comparing rare disease VGPAs. By providing standardised data on patient cohorts from real-world case-reports and controlling the configuration of evaluated VGPAs, PhEval enables transparent, portable, comparable and reproducible benchmarking of VGPAs. As these tools are often a key component of many rare disease diagnostic pipelines, a thorough and standardised method of assessment is essential for improving patient diagnosis and care.

PMID:40121479 | DOI:10.1186/s12859-025-06105-4

Orphanet J Rare Dis. 2025 Mar 20;20(1):138. doi: 10.1186/s13023-025-03633-3.

ABSTRACT

BACKGROUND: Adults with rare disorders experience multiple psychosocial risk factors beyond their medical symptoms, including impaired quality of life, social isolation, loneliness, and mental health problems. These risk factors were amplified during the COVID-19 pandemic, when health care appointments and social/vocational activities were reduced or cancelled. There is a lack of longitudinal data tracking this population over time, making the long term consequences uncertain.

METHODS: We conducted a monthly survey of 58 adults aged between 19 and 71 years (M = 45.1 years, SD = 12.6) with rare disorders across 13 months during the COVID-19 pandemic in Norway. We measured symptoms of anxiety and depression with the Hopkins Symptom Checklist-5. Covid fear was measured with the Coronavirus Anxiety Scale. We examined the mental health and covid fear trajectories across the 13 months with multi-level growth curve models with repeated measures at Level 1 and individuals at Level 2. To account for differences in governmental restrictions throughout the 13 months, we used the stringency index from The Oxford Covid-19 Government Response Tracker.

RESULTS: The growth models indicated stable levels of anxiety and depression over 13 months that were elevated compared to existing population data and were unpredicted by pandemic restrictions. The level of covid fear was significantly associated with the levels of anxious and depressive symptoms.

CONCLUSIONS: The current study found elevated and stable trajectories of mental health symptoms throughout the pandemic for persons with rare disorders. This highlights the necessity of investigating the long-lasting influence of the pandemic on mental health among individuals with rare disorders.

PMID:40114232 | DOI:10.1186/s13023-025-03633-3

Zhongguo Dang Dai Er Ke Za Zhi. 2025 Mar 15;27(3):373-376. doi: 10.7499/j.issn.1008-8830.2409076.

ABSTRACT

The patient is a male neonate born at term. He was admitted 16 minutes after birth due to stridor and inspiratory respiratory distress. Physical examination revealed a cleft palate, and a grade II systolic ejection murmur was audible at the left sternal border. Whole exome sequencing identified a heterozygous variant in the SON gene, c.5753-5756del (p.Val1918GlufsTer87), which was absent in either parent, indicating a de novo mutation. According to the guidelines of the American College of Medical Genetics and Genomics, this was classified as a "pathogenic variant" leading to a diagnosis of Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome. Upon admission, symptomatic supportive treatment was provided. Follow-up at the age of 8 months revealed persistent stridor; the infant could only consume small amounts of milk and was unable to sit steadily. This patient represents the youngest reported case to date, and his symptoms expand the clinical spectrum of the disease, providing valuable insights for clinical diagnosis and treatment.

PMID:40105086 | DOI:10.7499/j.issn.1008-8830.2409076

Arq Neuropsiquiatr. 2025 Feb;83(2):1-6. doi: 10.1055/s-0045-1804920. Epub 2025 Mar 19.

ABSTRACT

BACKGROUND: Patients with neuromuscular diseases (NMDs) often face swallowing difficulties (dysphagia) as part of their condition.

OBJECTIVE: To determine the prevalence of self-reported swallowing disorders in patients with rare NMDs and examine their correlation with related quality of life (QoL).

METHODS: The study included 103 patients with confirmed rare NMDs. Dysphagia risk was assessed using the validated Eating Assessment Tool-10 (EAT-10), and QoL related to swallowing was measured with the SWAL-QoL survey. Correlations between EAT-10 and SWAL-QoL scores were analyzed. Additionally, the mean questionnaire scores were compared among patients classified as dysphagic, dysphagic with high aspiration risk, and nondysphagic.

RESULTS: The estimated prevalence of dysphagia in the cohort, based on EAT-10, was 52.4%. Higher scores were significantly correlated with poorer swallowing-related QoL, except for the sleep domain. The most affected SWAL-QoL domains were burden, eating desire, eating duration, food selection, communication, fear, mental health, social functioning, and dysphagia battery score (DBS), with significant differences observed among the classifications (p < 0.001 for most domains, and p = 0.015 for eating desire). No statistically significant difference in swallowing QoL was found between sitters and walkers.

CONCLUSION: Dysphagia is a prevalent symptom in patients with rare NMDs, affecting 52.4% of the cohort and significantly impacting QoL in nearly all domains except sleep.

PMID:40107292 | DOI:10.1055/s-0045-1804920

Tokai J Exp Clin Med. 2025 Apr 20;50(1):34-36.

ABSTRACT

A 19-year-old woman with three seborrheic keratosis on her right abdomen and five seborrheic keratosis on her both buttocks is presented. That developed at the age of five and two months prior to the visit. At our initial dermatological examination, we noticed three oval, well defined, brown tumors on her right abdomen, and several round, well defined, brown nodules on her both buttocks. Dermoscopy findings showed comedo-like openings, fissures, and ridges. Histopathological examination showed hyperkeratosis and pseudohorn cysts, and basaloid keratinocytes proliferation with no dysplastic cells. These findings were consistent with SK. She was treated by cryotherapy using a liquid nitrogen spray, and her tumors and nodules dropped off entirely. Juvenile-onset of seborrheic keratosis is quite rare in East Asian countries and needs to be differentiated from keratinocytic epidermal nevus.

PMID:40105231

Rev Salud Publica (Bogota). 2023 Jul 1;25(4):107594. doi: 10.15446/rsap.V25n4.107594. eCollection 2023 Aug.

ABSTRACT

OBJECTIVE: To analyze the reports of orphan diseases in Bogotá, in order to describe the epidemiological profile, based on the cases reported to the Public Health System (Sivigila), from January 2019 to March 2022.

METHODS: A descriptive and cross-sectional study was carried out in which the cases reported to Sivigila in Bogotá were analyzed in the period between January 2019 and March 2022. Absolute and relative frequencies, frequency distribution and prevalences and averages of different variables were calculated. notified in the notification sheets.

RESULTS: From January 2019 to March 2022, 10,399 patients with orphan diseases have been notified to Sivigila in Bogotá, of which 56.25% (5,849) are female and 43.75% (4,550) are female. male sex. 87.10% (9,060) of the cases belong to the contributory regime. The town with the highest number of reports was Suba with 15.85% (1,294). The most reported orphan diseases were: multiple sclerosis with 13.1% (1,363), amyotrophic lateral sclerosis with 4.04% (421) and Guillain-Barre syndrome with 3.6% (374). A patient with an orphan disease in Bogotá takes 61.3 months on average from the beginning of their symptoms to obtaining a diagnosis (SD 101.9).

CONCLUSIONS: From the notification to Sivigila in Bogotá, compared to the global prevalence, there is an under-registration of patients with orphan diseases and the delay in the diagnosis of these diseases is evident.

PMID:40098659 | PMC:PMC11648384 | DOI:10.15446/rsap.V25n4.107594