J Nepal Health Res Counc. 2023 Jul 20;20(4):1008-1012. doi: 10.33314/jnhrc.v20i4.4520.

ABSTRACT

Genodermatoses are group of genetic disorders that present with cutaneous manifestations. The exact prevalence on many of these conditions are unknown due to its rarity, need of specialized tests for diagnosis and lack of proper reporting system. Most of the patients are faced with life-long disability and associated stigma. There is a need for specialized centers for proper diagnosis of these conditions and a very elaborated yet simple reporting system in Nepal. These rare conditions should be kept in priority by the government in align with the sustainable development goals to ensure healthy-lives and promote well-being for all. A wider engagement of patient-led support groups might be useful in providing necessary information on the disease to the general population and alleviate the stigma associated with these diseases. Keywords: Epidermolysis bullosa; genodermatoses; rare diseases; Nepal.

PMID:37489694 | DOI:10.33314/jnhrc.v20i4.4520

Indian J Pediatr. 2023 Jul 24. doi: 10.1007/s12098-023-04740-4. Online ahead of print.

ABSTRACT

OBJECTIVES: To estimate the economic burden of patients diagnosed with Gaucher disease at a public hospital from a societal perspective.

METHODS: Data from 30 Gaucher patients visiting the Genetic Clinic of the Department of Pediatrics at the study site in Mumbai was analyzed between January 2019 and January 2021. A cost of illness analysis was undertaken to estimate direct, indirect and intangible costs. Costs in treated and treatment naive groups were compared.

RESULTS: The total cost (direct and indirect) for 30 patients was ₹25,45,74,743/- (3440199.2 USD). Majority of this cost (99.8%) was due to direct costs of which medications [Enzyme replacement therapy (ERT) and Substrate reduction therapy (SRT)] constituted 98.8%. The notional cost was ₹1,43,94,695. Total costs of 14 treated patients were ₹25,29,67,279 and 16 treatment naive patients were ₹16,15,064 with a ratio of 157:1. Direct costs and cost of school absenteeism were significantly higher in the treated subgroup. Overall, direct, total costs and costs of school absenteeism were significantly associated with age and disease duration.

CONCLUSIONS: The economic burden of Gaucher disease is a staggering amount. This is an underestimate, as the expenses are highly subsidized in a public health facility. The highest contributor to cost component was direct costs, especially medication costs. Against the backdrop of the National Policy for Rare Diseases, resource allocation towards Gaucher disease should consider short term measures for judicious funding or reimbursement of disease-specific therapy and long-term cost-effective measures for promoting preventive strategies as the most practically feasible solution to reduce this economic burden.

PMID:37486590 | DOI:10.1007/s12098-023-04740-4

Heliyon. 2023 Jun 5;9(6):e17005. doi: 10.1016/j.heliyon.2023.e17005. eCollection 2023 Jun.

ABSTRACT

BACKGROUND: Cystic fibrosis (CF) is a serious autosomal recessive disorder. Early diagnosis, comorbidity prevention, and control are cornerstones for a quality life and for improving life expectancy. In Colombian Caribbean, where there is a genetically admixed population, CF is an orphan disease affecting children and adults, and it remains a challenging issue to be addressed carefully. This work describes the genetic, clinical, and paraclinical profiles of CF patients from Cartagena de Indias, Colombia.

METHODS: Thirty-six patients were included in the study. The subjects were identified and evaluated through the Regional Program for CF patients. CFTR gene mutations, anthropometric parameters, microbiological infections, and pulmonary function were analyzed. Data on demographic parameters, pharmacological treatments, and comorbidities were reported. Frequency and percentages were established for the categorical variables and mean or median for the quantitative variables. In addition, comparisons were made by sex.

RESULTS: The average age of the patients was 11.9 ± 5.3 years and the median age at diagnosis was 14 months. 55.5% were women and 44.5% were men. The mean values for weight, height, and body mass index were 35 ± 17.6 kg, 139.9 ± 28 cm, and 16.5 ± 2.9 kg/m2, respectively. The clinical manifestations that occurred more frequently were steatorrhea (65.4%) and recurrent pneumonia (46.2%). Chronic airway infection with Pseudomonas aeruginosa was identified in 71.4% of the cases and the p.F508del mutation was found in 47.2% of the subjects.

CONCLUSION: The current profile of CF patients from the Colombian Caribbean showed some concerning features, such as nutritional status; however, progress in early diagnosis and clinical follow-up could contribute to improve the general conditions of patients. It is necessary to continue efforts to increase the life expectancy and quality of life of the patients.

PMID:37484404 | PMC:PMC10361099 | DOI:10.1016/j.heliyon.2023.e17005

Orphanet J Rare Dis. 2023 Jul 21;18(1):196. doi: 10.1186/s13023-023-02776-5.

ABSTRACT

BACKGROUND: The development of e-health technologies for teleconsultation and exchange of knowledge is one of the core purposes of European Reference Networks (ERNs), including the ERN EURO-NMD for rare neuromuscular diseases. Within ERNs, the Clinical Patient Management System (CPMS) is a web-based platform that seeks to boost active collaboration within and across the network, implementing data sharing. Through CPMS, it is possible to both discuss patient cases and to make patients' data available for registries and databases in a secure way. In this view, CPMS may be considered a sort of a temporary storage for patients' data and an effective tool for data sharing; it facilitates specialists' consultation since rare diseases (RDs) require multidisciplinary skills, specific, and outstanding clinical experience. Following European Union (EU) recommendation, and to promote the use of CPMS platform among EURO-NMD members, a twelve-month pilot project was set up to train the 15 Italian Health Care Providers (HCPs). In this paper, we report the structure, methods, and results of the teaching course, showing that tailored, ERN-oriented, training can significantly enhance the profitable use of the CPMS.

RESULTS: Throughout the training course, 45 professionals learned how to use the many features of the CPMS, eventually opening 98 panels of discussion-amounting to 82% of the total panels included in the EURO-NMD. Since clinical, genetic, diagnostic, and therapeutic data of patients can be securely stored within the platform, we also highlight the importance of this platform as an effective tool to discuss and share clinical cases, in order to ease both case solving and data storing.

CONCLUSIONS: In this paper, we discuss how similar course could help implementing the use of the platform, highlighting strengths and weaknesses of e-health for ERNs. The expected result is the creation of a "map" of neuromuscular patients across Europe that might be improved by a wider use of CPMS.

PMID:37480080 | PMC:PMC10360326 | DOI:10.1186/s13023-023-02776-5

Rev Neurol. 2023 Jul 28;77(s01):S3-S5. doi: 10.33588/rn.77s01.2023196.

ABSTRACT

INTRODUCTION: ROHHAD (rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation) is a rare disease, with only about two hundred cases reported to date, that starts in previously healthy children. The first sign is usually obesity, followed by hypothalamic dysfunction and sleep-disordered breathing, which rapidly progresses until the death of the patient. ROHHAD with narcolepsy is even rarer, with only two cases described so far.

CASE REPORT: We report the case of a boy who showed signs of obesity and sleepiness since he was 5 years old. At the age of 7, he suffered two tonic-clonic seizures and, over the next four years, displayed signs and symptoms of significant hypothalamic dysfunction; after multiple tests, he was then diagnosed with ROHHAD. Despite receiving a large number of treatments, the patient died at the age of 11.

CONCLUSION: The pathophysiology of this disease needs to be clarified in order to investigate effective treatments in the future.

PMID:37477027 | DOI:10.33588/rn.77s01.2023196

Bioorg Med Chem. 2023 Sep 7;92:117375. doi: 10.1016/j.bmc.2023.117375. Epub 2023 Jun 8.

NO ABSTRACT

PMID:37474404 | DOI:10.1016/j.bmc.2023.117375

Genet Test Mol Biomarkers. 2023 Jul;27(7):203-204. doi: 10.1089/gtmb.2023.29074.persp. Epub 2023 Jul 20.

NO ABSTRACT

PMID:37471205 | DOI:10.1089/gtmb.2023.29074.persp

BMJ Paediatr Open. 2023 Jul;7(1):e002002. doi: 10.1136/bmjpo-2023-002002.

ABSTRACT

Inborn errors of immunity (IEI), also known as primary immunodeficiency diseases, comprise a group of rare genetic disorders that affect the development or/and function of the immune system. These disorders predispose individuals to recurrent infections, autoimmunity, cancer and immune dysregulations. The field of IEI diagnosis and treatment in mainland China has made significant strides in recent years due to advances in genome sequencing, genetics, immunology and treatment strategies. However, the accessibility and affordability of diagnostic facilities and precision treatments remain variable among different regions. With the increasing government emphasis on rare disease prevention, diagnosis, and treatment, the field of IEI is expected to progress further in mainland China. Herein, we reviewed the development and current state of IEI in mainland China, highlighting the achievements made, as well as opportunities and challenges that lie ahead.

PMID:37474202 | PMC:PMC10357751 | DOI:10.1136/bmjpo-2023-002002

JAMA Netw Open. 2023 Jul 3;6(7):e2324380. doi: 10.1001/jamanetworkopen.2023.24380.

ABSTRACT

IMPORTANCE: Genomic advances inform our understanding of epilepsy and can be translated to patients as precision diagnoses that influence clinical treatment, prognosis, and counseling.

OBJECTIVE: To delineate the genetic landscape of pediatric epilepsy and clinical utility of genetic diagnoses for patients with epilepsy.

DESIGN, SETTING, AND PARTICIPANTS: This cohort study used phenotypic data from medical records and treating clinicians at a pediatric hospital to identify patients with unexplained pediatric-onset epilepsy. Exome sequencing was performed for 522 patients and available biological parents, and sequencing data were analyzed for single nucleotide variants (SNVs) and copy number variants (CNVs). Variant pathogenicity was assessed, patients were provided with their diagnostic results, and clinical utility was evaluated. Patients were enrolled from August 2018 to October 2021, and data were analyzed through December 2022.

EXPOSURES: Phenotypic features associated with diagnostic genetic results.

MAIN OUTCOMES AND MEASURES: Main outcomes included diagnostic yield and clinical utility. Diagnostic findings included variants curated as pathogenic, likely pathogenic (PLP), or diagnostic variants of uncertain significance (VUS) with clinical features consistent with the involved gene's associated phenotype. The proportion of the cohort with diagnostic findings, the genes involved, and their clinical utility, defined as impact on clinical treatment, prognosis, or surveillance, are reported.

RESULTS: A total of 522 children (269 [51.5%] male; mean [SD] age at seizure onset, 1.2 [1.4] years) were enrolled, including 142 children (27%) with developmental epileptic encephalopathy and 263 children (50.4%) with intellectual disability. Of these, 100 participants (19.2%) had identifiable genetic explanations for their seizures: 89 participants had SNVs (87 germline, 2 somatic mosaic) involving 69 genes, and 11 participants had CNVs. The likelihood of identifying a genetic diagnosis was highest in patients with intellectual disability (adjusted odds ratio [aOR], 2.44; 95% CI, 1.40-4.26), early onset seizures (aOR, 0.93; 95% CI, 0.88-0.98), and motor impairment (aOR, 2.19; 95% CI 1.34-3.58). Among 43 patients with apparently de novo variants, 2 were subsequently determined to have asymptomatic parents harboring mosaic variants. Of 71 patients who received diagnostic results and were followed clinically, 29 (41%) had documented clinical utility resulting from their genetic diagnoses.

CONCLUSIONS AND RELEVANCE: These findings suggest that pediatric-onset epilepsy is genetically heterogeneous and that some patients with previously unexplained pediatric-onset epilepsy had genetic diagnoses with direct clinical implications.

PMID:37471090 | DOI:10.1001/jamanetworkopen.2023.24380

Bioinformatics. 2023 Jul 1;39(7):btad440. doi: 10.1093/bioinformatics/btad440.

ABSTRACT

MOTIVATION: Despite low prevalence, rare diseases affect 300 million people worldwide. Research on pathogenesis and drug development lags due to limited commercial potential, insufficient epidemiological data, and a dearth of publications. The unique characteristics of rare diseases, including limited annotated data, intricate processes for extracting pertinent entity relationships, and difficulties in standardizing data, represent challenges for text mining.

RESULTS: We developed a rare disease data acquisition framework using text mining and knowledge graphs and constructed the most comprehensive rare disease knowledge graph to date, Rare Disease Bridge (RDBridge). RDBridge offers search functions for genes, potential drugs, pathways, literature, and medical imaging data that will support mechanistic research, drug development, diagnosis, and treatment for rare diseases.

AVAILABILITY AND IMPLEMENTATION: RDBridge is freely available at http://rdb.lifesynther.com/.

PMID:37458501 | PMC:PMC10368801 | DOI:10.1093/bioinformatics/btad440

Rheumatol Int. 2023 Oct;43(10):1925-1934. doi: 10.1007/s00296-023-05372-9. Epub 2023 Jul 15.

ABSTRACT

Antisynthease syndrome (ASSD) is a rare, complex and understudied autoimmune disease. Internet-based studies can overcome barriers of traditional on-site research and are therefore very appealing for rare diseases. The aim of this study was to investigate patient-reported symptoms, diagnostic delay, symptoms, medical care, health status, working status, disease knowledge and willingness to participate in research of ASSD patients by conducting an international web-based survey. The multilingual questionnaire was created by an international group of rheumatologists and patients and distributed online. 236 participants from 22 countries completed the survey. 184/236 (78.0%) were female, mean age (SD) was 49.6 years (11.3) and most common antisynthetase antibody was Jo-1 (169/236, 71.6%). 79/236 (33.5%) reported to work full-time. Median diagnostic delay was one year. The most common symptom at disease onset was fatigue 159/236 (67.4%), followed by myalgia 130/236 (55.1%). The complete triad of myositis, arthritis and lung involvement verified by a clinician was present in 42/236 (17.8%) at disease onset and in 88/236 (37.3%) during the disease course. 36/236 (15.3%) reported to have been diagnosed with fibromyalgia and 40/236 (16.3%) with depression. The most reported immunosuppressive treatments were oral corticosteroids 179/236 (75.9%), followed by rituximab 85/236 (36.0%). 73/236 (30.9%) had received physiotherapy treatment. 71/236 (30.1%) reported to know useful online information sources related to ASSD. 223/236 (94.5%) were willing to share health data for research purposes once a year. Our results reiterate that internet-based research is invaluable for cooperating with patients to foster knowledge in rare diseases.

PMID:37452880 | DOI:10.1007/s00296-023-05372-9

Lancet Haematol. 2023 Aug;10(8):e687-e694. doi: 10.1016/S2352-3026(23)00182-5. Epub 2023 Jul 11.

ABSTRACT

Sickle cell disease is a hereditary multiorgan disease that is considered rare in the EU. In 2017, the Rare Diseases Plan was implemented within the EU and 24 European Reference Networks (ERNs) were created, including the ERN on Rare Haematological Diseases (ERN-EuroBloodNet), dedicated to rare haematological diseases. This EU initiative has made it possible to accentuate existing collaborations and create new ones. The project also made it possible to list all the needs of people with rare haematological diseases not yet covered health-care providers in the EU to allow optimised care of individuals with rare pathologies, including sickle cell disease. This Viewpoint is the result of joint work within 12 EU member states (ie, Belgium, Cyprus, Denmark, France, Germany, Greece, Ireland, Italy, Portugal, Spain, Sweden, and The Netherlands), all members of the ERN-EuroBloodNet. We describe the role of the ERN-EuroBloodNet to improve the overall approach to and the management of individuals with sickle cell disease in the EU through specific on the pooling of expertise, knowledge, and best practices; the development of training and education programmes; the strategy for systematic gathering and standardisation of clinical data; and its reuse in clinical research. Epidemiology and research strategies from ongoing implementation of the Rare Anaemia Disorders European Epidemiological Platform is depicted.

PMID:37451300 | DOI:10.1016/S2352-3026(23)00182-5

Am J Hum Genet. 2023 Jul 6:S0002-9297(23)00213-6. doi: 10.1016/j.ajhg.2023.06.012. Online ahead of print.

ABSTRACT

Phosphoinositides (PIs) are membrane phospholipids produced through the local activity of PI kinases and phosphatases that selectively add or remove phosphate groups from the inositol head group. PIs control membrane composition and play key roles in many cellular processes including actin dynamics, endosomal trafficking, autophagy, and nuclear functions. Mutations in phosphatidylinositol 4,5 bisphosphate [PI(4,5)P2] phosphatases cause a broad spectrum of neurodevelopmental disorders such as Lowe and Joubert syndromes and congenital muscular dystrophy with cataracts and intellectual disability, which are thus associated with increased levels of PI(4,5)P2. Here, we describe a neurodevelopmental disorder associated with an increase in the production of PI(4,5)P2 and with PI-signaling dysfunction. We identified three de novo heterozygous missense variants in PIP5K1C, which encodes an isoform of the phosphatidylinositol 4-phosphate 5-kinase (PIP5KIγ), in nine unrelated children exhibiting intellectual disability, developmental delay, acquired microcephaly, seizures, visual abnormalities, and dysmorphic features. We provide evidence that the PIP5K1C variants result in an increase of the endosomal PI(4,5)P2 pool, giving rise to ectopic recruitment of filamentous actin at early endosomes (EEs) that in turn causes dysfunction in EE trafficking. In addition, we generated an in vivo zebrafish model that recapitulates the disorder we describe with developmental defects affecting the forebrain, including the eyes, as well as craniofacial abnormalities, further demonstrating the pathogenic effect of the PIP5K1C variants.

PMID:37451268 | DOI:10.1016/j.ajhg.2023.06.012

Head Neck. 2023 Jul 14. doi: 10.1002/hed.27457. Online ahead of print.

ABSTRACT

Sinonasal cancer is a heterogeneous orphan disease of diverse histologies, each with distinct clinical, oncologic, and toxicity profiles. Because of the comparative rarity of these cancers, sinonasal cancers are treated as a grouped diagnosis despite their clinical and biological heterogeneity. Multimodality treatment with a combination of surgery, chemotherapy, and/or radiotherapy is the standard-of-care for advanced-stage patients but there are few surveillance or follow-up practice guidelines or formalized survivorship care pathways. A scoping literature review was conducted via PubMed, EMBASE, and Google Scholar. A total of 112 studies were included, which were grouped along the following topics: surveillance, second primary tumors, quality of life, and symptom burden. Sinonasal cancer tends to exhibit a higher rate of local failure and occur in a delayed fashion compared to mucosal malignancies of the head and neck. Moreover, the site of failure and time-varying risk of recurrence is histology-specific. Following multimodality treatment of the skull base, patients may experience endocrine, visual, auditory, sinonasal, olfactory, and neurocognitive deficits, as well as psychosocial impairments that impact multiple physical and neuropsychological domains, resulting in diminished quality of life. Sinonasal cancer patients would benefit from tailored, histology-specific survivorship programs to address the recurrence, second primary, and functional impairments resulting from disease and treatment toxicity.

PMID:37449544 | DOI:10.1002/hed.27457

J Dermatolog Treat. 2023 Dec;34(1):2235443. doi: 10.1080/09546634.2023.2235443.

ABSTRACT

Dissecting cellulitis of the scalp (DCS) is a rare recurrent inflammatory disease of unknown etiology. Ideal treatment of DCS remains unclear. We treated DCS with 2940-nm erbium Yttrium-aluminum-garnet (YAG) laser in 12 patients and assessed the efficacy by Physicians Global Assessment (PGA), number of inflammatory nodules, abscesses, and area of alopecia. After a mean treating session of 2.2 months, 10 patients reached PGA 0 (initial PGA 1) or 1 (initial PGA ≥2). At the end of treatment, there was 84%, 100%, and 74% regression in nodules, abscesses, and alopecia area, respectively. No severe adverse effect was observed. 2940-nm erbium: YAG laser may be an effective and safe way to treat DCS resistant to other therapies.

PMID:37439301 | DOI:10.1080/09546634.2023.2235443

BMJ Case Rep. 2023 Jul 12;16(7):e252672. doi: 10.1136/bcr-2022-252672.

ABSTRACT

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a multisystemic rare genetic disorder characterised by abnormalities of the immune system. We report the ocular features of APECED in two siblings of an Indian family, out of four who are still living. The ocular features of this disorder primarily included madarosis, refractive error, heterochromia, corneal opacity and peripheral retinal pigment epithelium degeneration. There is marked phenotypical heterogeneity in this disorder. We found differences even between monozygotic twins. While one of the twins did not have any ocular issues, the other one did. The child with corneal involvement was the most symptomatic; however, it did not lead to visual impairment. On genetic workup, homozygous p.M1V mutation was found in exon 1 of AIRE gene that has not been studied in Indian subjects with APECED. To the best of our knowledge, there is no report in literature describing ocular features of APECED in an Indian family with distinctive genetic involvement.

PMID:37437958 | DOI:10.1136/bcr-2022-252672

Eur Respir Rev. 2023 Jul 12;32(169):220200. doi: 10.1183/16000617.0200-2022. Print 2023 Sep 30.

ABSTRACT

BACKGROUND: Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by pulmonary, otological and sino-nasal manifestations. Well-defined clinical outcome measures are needed in such rare diseases research to improve follow-up and treatments. Pulmonary outcome measures have recently been described. The aim of this study was to identify ear and upper airway outcome measures that could be used for longitudinal follow-up of individuals with PCD.

METHODS: A scoping review was performed by systematically searching MEDLINE, Embase and Cochrane Database of Systematic Reviews online databases for studies published from January 1996 to March 2022 that included at least 10 adult or paediatric PCD patients and reported ear and upper airway outcomes.

RESULTS: 33 studies (1794 patients) were included. 10 ear and upper airway outcomes were reported. 17 studies reported audiometry, 16 reported otoscopic findings, and 13 reported rhinoscopic findings and sinus imaging. Health-related quality of life questionnaires were performed in seven studies. There was a high variability in definitions and measurement of outcomes between studies.

CONCLUSIONS: This scoping review highlights the lack of data regarding ear and upper airway outcomes in PCD. It also reports a high heterogeneity in outcome definitions or measures. We provide well-founded specific suggestions to standardise ear and upper airway outcome definitions and reporting for future PCD research studies.

PMID:37437912 | PMC:PMC10336562 | DOI:10.1183/16000617.0200-2022

Cien Saude Colet. 2023 Jul;28(7):1881-1889. doi: 10.1590/1413-81232023287.18122022. Epub 2023 Mar 15.

ABSTRACT

Rare or orphan diseases have played an important role in the pharmaceutical industry. On the other hand, the impact of new technologies derived from genomic research has been growing in this industry, with new drugs being launched on the market at unsustainable prices for health systems and patients. This double tendency poses important and growing challenges to public policies on Health Technology Assessment, whose hegemonic rationale is based on cost-benefit analysis between therapies. The very high prices of these drugs require revisiting this rationale and the recent negotiations between the Brazilian Ministry of Health and Novartis regarding a possible risk-sharing agreement for the incorporation of the drug Zolgensma is an opportunity for this revisitation.

PMID:37436303 | DOI:10.1590/1413-81232023287.18122022

Nature. 2023 Jul 12. doi: 10.1038/s41586-023-06277-0. Online ahead of print.

ABSTRACT

Splice-switching antisense oligonucleotides (ASOs) could be used to treat a subset of individuals with genetic diseases1, but the systematic identification of such individuals remains a challenge. Here we performed whole-genome sequencing analyses to characterize genetic variation in 235 individuals (from 209 families) with ataxia-telangiectasia, a severely debilitating and life-threatening recessive genetic disorder2,3, yielding a complete molecular diagnosis in almost all individuals. We developed a predictive taxonomy to assess the amenability of each individual to splice-switching ASO intervention; 9% and 6% of the individuals had variants that were 'probably' or 'possibly' amenable to ASO splice modulation, respectively. Most amenable variants were in deep intronic regions that are inaccessible to exon-targeted sequencing. We developed ASOs that successfully rescued mis-splicing and ATM cellular signalling in patient fibroblasts for two recurrent variants. In a pilot clinical study, one of these ASOs was used to treat a child who had been diagnosed with ataxia-telangiectasia soon after birth, and showed good tolerability without serious adverse events for three years. Our study provides a framework for the prospective identification of individuals with genetic diseases who might benefit from a therapeutic approach involving splice-switching ASOs.

PMID:37438524 | DOI:10.1038/s41586-023-06277-0

Eur J Dermatol. 2023 Apr 1;33(2):157-159. doi: 10.1684/ejd.2023.4455.

ABSTRACT

BACKGROUND: Chromosome 15q24 microdeletion is a rare genetic disorder, and the skin manifestations are poorly documented.

OBJECTIVES: In this cross-sectional observational study using social media (Facebook), we investigated the prevalence of atopic dermatitis in 15q24 microdeletion syndrome.

MATERIALS & METHODS: Parents and caregivers of a child with the syndrome were asked to participate using a validated self-reporting questionnaire.

RESULTS: In total, 60 participants completed the questionnaire. The prevalence of atopic dermatitis was 35% among patients with chromosome 15q24 deletion. Few patients received treatment according to international guidelines.

CONCLUSION: We describe the largest cohort of patients with 15q24 microdeletion syndrome, revealing a high prevalence of atopic dermatitis. Patients with 15q24 microdeletion syndrome should undergo dermatological evaluation for screening and management of atopic dermatitis. Approaching individuals via social media is a successful strategy, resulting in good information which may be used to counsel families.

PMID:37431118 | DOI:10.1684/ejd.2023.4455