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2024 MAR 23 (NewsRx) -- By a News Reporter-Staff News Editor at Obesity, Fitness & Wellness Week -- Investigators publish new report on gene therapy. According to news originating from [...]

2023 OCT 7 (NewsRx) -- By a News Reporter-Staff News Editor at Obesity, Fitness & Wellness Week -- A new study on Skin Diseases and Conditions - Ichthyosis is now [...]

2023 SEP 23 (NewsRx) -- By a News Reporter-Staff News Editor at Obesity, Fitness & Wellness Week -- From Washington, D.C., NewsRx journalists report that a patent application by the [...]

A recent report from Shanghai Jiao Tong University discusses the findings of a study on ichthyosis, a group of non-syndromic skin disorders. The study focused on three Chinese families with compound heterozygous variants in the ABCA12 gene, which is known to play a role in the pathology of ichthyosis. The researchers conducted clinical and genetic analyses, as well as immunohistochemistry and transcriptome sequencing, to explore the genotype-phenotype correlation and the impact of the variants on skin homeostasis. The study provides updated information on the correlation between genotype and phenotype and suggests the potential use of retinoic acid drugs for patients with ABCA12 variants. [Extracted from the article]

A recent report from researchers at Ross University School of Medicine focuses on autoimmune hepatitis, an inflammatory liver disease that primarily affects infants and adolescents. The case study discusses a 16-year-old male with a history of congenital ichthyosis who was diagnosed with autoimmune hepatitis and inflammatory bowel disease. The study highlights the challenges of diagnosing autoimmune hepatitis due to its similarities with other liver diseases. The prognosis for the patient appears to be positive. [Extracted from the article]

A recent study conducted by researchers at the University of Tunis El Manar in Tunisia explored the relationship between xeroderma pigmentosum (XP) and immune responses in skin carcinogenesis. The study analyzed serum samples from XP and non-XP cancer patients, as well as healthy controls, to measure the concentrations of various cytokines. The results showed that both XP and non-XP cancer patients had significantly higher levels of TNF-a cytokine compared to healthy individuals. Additionally, XP patients had higher levels of TNF-a compared to non-XP cancer patients. The study suggests a tendency for increased inflammatory cytokine secretion in cancer patients, particularly in XP patients. [Extracted from the article]

A recent report from Tampere University in Finland discusses the evolution of diagnostic practices for congenital ichthyoses, a group of skin conditions. The study analyzed data from 88 patients who underwent diagnostic testing at Tampere University Hospital between 2000 and 2020. The researchers found that genetic testing confirmed the diagnosis of ichthyosis in 33 cases, while conventional diagnostic methods were used in 55 cases. The study also identified four new gene variants associated with congenital ichthyoses. The research highlights the increasing use of genetic testing in diagnosing these conditions and its potential for improving diagnostics. [Extracted from the article]

A recent study conducted at University Hospital Mainz in Germany has provided new data on Netherton syndrome, a rare autosomal recessive disorder that affects the skin. The researchers found that the expression of interleukin (IL)-17/IL-36 and several Th2 cytokines may contribute to the development of Netherton syndrome. They suggest that immunohistochemistry (IHC) with IL-36 could be a useful tool for diagnosing the condition. However, the study also revealed a limitation of using LEKTI IHC in diagnosing Netherton syndrome. Further research is needed to better understand the inflammatory pathways involved in this condition. [Extracted from the article]

A recent study conducted at the University of Chicago has reported a case of ichthyosis, a skin condition, in a patient with Gaucher disease type 1 who was undergoing substrate reduction therapy (SRT) with eliglustat. This is the first reported case of ichthyosis developing after starting SRT for Gaucher disease. The researchers highlight the rarity of ichthyosis in type 1 Gaucher disease and raise questions about the potential link between SRT and the development of ichthyosis. The study has been peer-reviewed and published in the American Journal of Medical Genetics Part A. [Extracted from the article]

A recent study conducted by researchers at Mayo Clinic in Rochester, Minnesota, focused on a pediatric patient with a history of ichthyosis vulgaris and global anhidrosis who was diagnosed with erythema ab igne (EAI), a rare skin condition caused by chronic heat exposure. The patient developed brown patches on their extremities and abdomen, leading to extensive diagnostic investigations to rule out other causes. Ultimately, it was discovered that the patient had prolonged exposure to a space heater, confirming the diagnosis of EAI. This case highlights the challenges in diagnosing pediatric EAI cases and emphasizes the importance of thorough history-taking in the evaluation process. The research has been peer-reviewed and published in Pediatric Dermatology. [Extracted from the article]

A recent study conducted at Habib Thameur Hospital in Tunis, Tunisia, aimed to characterize the clinical and trichoscopic findings of alopecia in patients with autosomal recessive congenital ichthyosis (ARCI). The study included 30 patients, predominantly female, with a mean age of 20 years. The severity of ARCI was assessed using the Visual Index For Ichthyosis Severity scale, and alopecia was found to be a prominent finding in 11 patients. Trichoscopic findings included various abnormalities associated with hair follicles. This study provides valuable insights into the prevalence and features of alopecia in ARCI, contributing to our understanding of this dermatological condition. [Extracted from the article]

A recent study conducted in New Delhi, India, has found that vitamin D supplementation can provide significant relief for patients with congenital ichthyosis, a genetic skin disorder characterized by excessive scaling. The study involved 25 patients who were given high doses of vitamin D-3 for 10 days, followed by a daily allowance of vitamin D-3 and calcium. The researchers observed improvements in cutaneous scaling, symptoms such as dryness and tightness of the skin, and overall quality of life. However, further research with larger sample sizes is needed to confirm these findings. [Extracted from the article]

A recent report from the Second Affiliated Hospital in Changsha, China, discusses a case of xeroderma pigmentosum, a rare genetic skin disorder characterized by a deficiency in nucleotide excision repair. The report focuses on a young Chinese patient with xeroderma pigmentosum Group A who also had erythropoietic protoporphyria, an inherited metabolic disease. The patient carried specific genetic mutations associated with both conditions. This research provides valuable insights into the understanding of these rare disorders. For more information, the full report can be accessed through Frontiers in Endocrinology. [Extracted from the article]

A recent report from Maastricht University Medical Center in the Netherlands discusses the findings of a study on a type of congenital ichthyosis called epidermolytic ichthyosis (EI). The study identified three cases of mild EI caused by pathogenic variations in the L12 linker domain of the KRT10 gene. This is the first time these specific gene variants have been associated with EI. The researchers conducted genetic analyses and in vitro studies to establish the pathogenicity of the identified variants. The study concludes that these variants in the L12 linker domain of KRT10 are causal to an atypical form of EI resembling peeling skin syndrome. [Extracted from the article]

A report from Hunan Normal University in Changsha, People's Republic of China, discusses X-linked recessive ichthyosis (XLI), a hereditary skin disease characterized by dryness and scaling of the skin. The disease is the second most common type of ichthyosis and affects males without any racial or geographical differences. The report focuses on the causative gene for XLI, the steroid sulfatase gene (STS), and its role in the pathogenesis, diagnosis, and treatment of the disease. The research aims to improve clinical diagnosis and develop new strategies for treatment and prenatal diagnosis of XLI. [Extracted from the article]

A case report published in Reactions Weekly describes a 37-year-old man with generalized ichthyosis who experienced treatment failure while receiving acitretin, dupilumab, and tazarotene. The patient had a history of the condition and had been experiencing symptoms since birth. Despite receiving topical tazarotene cream, acitretin, dupilumab, and narrowband UVB phototherapy, the treatment was ineffective. However, after receiving ixekizumab, the patient showed improvement. [Extracted from the article]

Byline: Bipasha. Mukherjee, P. Sivaranjani Ichthyosis refers to a group of rare dermatological condition characterized by dry, thickened, and scaly skin. The term is derived from the Greek word ichthys [...]

A recent case report from Zhejiang University School of Medicine discusses the rare condition of ichthyosis uteri, which is characterized by the replacement of the endometrial lining with stratified squamous epithelium. The report describes the case of a 68-year-old woman who presented with vaginal hemorrhages and was diagnosed with endometrial adenocarcinoma with transitional cell differentiation and ichthyosis uteri with dysplasia. The patient underwent radical hysterectomy and postoperative radiotherapy, and at 8 months follow-up, showed no signs of recurrence or metastasis. The report emphasizes the importance of adequate pathological sampling and understanding the molecular alterations in different pathological morphologies to better understand the disease. [Extracted from the article]

A 32-year-old man experienced hyperpigmentation, ichthyosis (a skin condition), and enteropathy (intestinal disease) while being treated with clofazimine for tuberculosis. He presented with abdominal pain and physical examination revealed skin discoloration and fish-scale-like changes on his lower limbs. Colonoscopy and capsule endoscopy confirmed the diagnosis. After stopping clofazimine, his symptoms improved. [Extracted from the article]

Azitra Inc. has filed a patent application for a treatment for Netherton Syndrome (NS), a rare skin disease. The treatment involves using genetically modified microbes to provide LEKTI protein domains to the skin, which can inhibit serine protease activity and penetrate multiple layers of the skin. The microbes are designed to live on the skin's surface for a specific period, continuously supplying the LEKTI protein domains. The application also discusses specific microbe species and genetic modifications to enhance protein secretion and skin penetration. [Extracted from the article]

Daiichi Sankyo Company Limited has been issued a patent for a KLK5 inhibitory peptide. The patent describes the peptide's potential use in treating or preventing KLK5-related diseases, such as Netherton syndrome, atopic dermatitis, asthma, and cancer. The peptide inhibits the protease activity of KLK5, which is involved in skin desquamation and immune responses. The patent also mentions the possibility of combining the peptide with other pharmaceutical products for enhanced efficacy. This information may be useful for researchers studying allergies, skin diseases, and respiratory conditions. [Extracted from the article]

A recent study conducted by Guy's and St Thomas' NHS Foundation Trust in London focused on improving adherence to photoprotection in individuals with xeroderma pigmentosum (XP), a genetic condition that increases the risk of skin cancer. The study identified barriers to optimal photoprotection and developed a personalized psychological intervention called XPAND. The intervention consisted of seven sessions and significantly reduced daily ultraviolet radiation exposure. The study emphasizes the importance of addressing psychosocial factors in improving photoprotection behavior in individuals with XP, and further research is needed to adapt and evaluate the intervention for other high-risk groups. [Extracted from the article]

A study conducted at Lady Hardinge Medical College in India aimed to assess the clinical and epidemiological profile of children with congenital ichthyosis (CI), a disorder of cornification that affects the skin. The study included 32 children with CI, with the most common phenotype being ichthyosis vulgaris. Other forms of CI, such as X-linked recessive ichthyosis, epidermolytic ichthyosis, lamellar ichthyosis, and rare syndromic forms, were also observed. The study highlighted the importance of identifying the specific phenotype of ichthyosis for prognosis, treatment decisions, and genetic counseling. [Extracted from the article]

A case report published in Reactions Weekly describes a boy with autosomal recessive congenital ichthyosis and superposed mild ichthyosis vulgaris who exhibited lack of efficacy during treatment with ciclopirox and unspecified antiseptics for superinfections with Streptococcus spp. and Candida spp. Despite treatment, the boy experienced persistent itching and widespread skin inflammation. He was then treated with off-label dupilumab injections, which resulted in significant improvement in erythema flares, pruritus, and superficial cutaneous infections. The dose of dupilumab was adjusted to better control symptoms, and no adverse events were reported. [Extracted from the article]

A recent preprint abstract discusses the relationship between the skin microbiome and the genetic and phenotypic effects of ichthyosis, a type of monogenic skin disorder. The study examines the skin microbiome of individuals with seven different genotypes of ichthyosis, analyzing species, strain, and metabolic pathway levels. The findings suggest that the ichthyosis genotype, phenotype, and personal covariables such as topical emollients and oral retinoids can collectively influence the composition and potential of the skin microbiome. However, further research and peer review are needed to validate these findings. [Extracted from the article]

Researchers from Hebei Medical University in China have conducted a study on seven patients with inherited ichthyosis and Nagashima-type palmoplantar keratoderma. The study involved a thorough clinical and genetic investigation, including genetic testing using whole-exome sequencing. The researchers identified diagnostic variations in several genes and expanded the mutation spectrum of ichthyosis. The findings provide important information for genetic counseling and contribute to a better understanding of these skin conditions. [Extracted from the article]

A patent application titled "Toxic Aldehyde Related Diseases And Treatment" has been submitted by inventors Brady, Kinney, Mandell, and Young. The application discusses the generation of toxic aldehydes in metabolic and inflammatory processes, which can lead to damage in various organs and the development of diseases such as Age Related Macular Degeneration (AMD). The inventors propose the use of small molecule therapeutics to scavenge toxic aldehydes and reduce the risk of these pathological conditions. The patent application also mentions specific diseases and conditions, such as ocular diseases, skin disorders, autoimmune diseases, and cardiovascular and neurological diseases, where aldehyde toxicity is implicated in the pathogenesis. The inventors suggest administering a compound, such as a primary amine compound, to treat, prevent, or reduce the risk of these diseases and conditions. The method of administration can be topical or systemic. [Extracted from the article]

Researchers from Nagoya University Graduate School of Medicine in Japan have successfully treated the rare genetic skin disorders epidermolytic ichthyosis (EI) and ichthyosis with confetti (IWC) by transplanting genetically healthy skin to inflamed areas. These diseases are caused by mutations in genes that make keratin in the skin, leading to fragile skin that blisters and forms thick, scaly patches. The researchers utilized a technique called revertant somatic recombination, which corrects the mutations by altering the genes that cause the skin condition. By grafting these naturally corrected skin cells to affected areas, outbreaks of the disease could be controlled. Although the technique was initially successful, some recurrence of the diseases was observed after 24 weeks. However, the researchers believe that this approach shows promise and could lead to further studies and clinical trials to refine the treatment and benefit more patients. [Extracted from the article]

A recent report from the Postgraduate Institute of Medical Education and Research in Chandigarh, India, provides insights into the clinical and epidemiological characteristics of non-syndromic congenital ichthyosis. The study, which involved a retrospective chart review of 107 patients, found that common ichthyoses were the most frequent diagnosis, followed by autosomal recessive congenital ichthyosis, epidermolytic ichthyosis, and erythrokeratoderma. The research also highlighted the importance of clinical findings and histological differences in distinguishing between different types of inherited non-syndromic ichthyosis, particularly in resource-poor settings. Additionally, the study revealed a high prevalence of vitamin D deficiency among patients with congenital ichthyosis, suggesting the need for screening for this deficiency in all cases. [Extracted from the article]

A recent study conducted at National Cheng Kung University Hospital in Taiwan explored the use of tofacitinib, a Janus kinase inhibitor, as a potential treatment for autosomal recessive congenital ichthyosis (ARCI). The researchers focused on a 27-year-old man with ARCI who showed rapid improvements in skin inflammation and quality of life after taking oral tofacitinib for 26 weeks. The study found that tofacitinib downregulated inflammatory genes and pathways, improved skin barrier markers, and normalized transglutaminase 1 distribution. These findings suggest that tofacitinib may be a promising therapy for patients with ARCI. [Extracted from the article]

A recent study conducted at the McKusick-Zhang Center for Genetic Medicine focused on exfoliative dermatitis, a common skin disease known as ichthyosis. The study aimed to identify the genetic variants associated with congenital ichthyosiform erythroderma (CIE), a type of autosomal recessive congenital ichthyosis (ARCI). Through exome sequencing and in silico analysis, the researchers identified compound heterozygous ABCA12 variants in a Chinese patient with CIE. The study expands the understanding of the genetic basis of CIE and provides valuable information for prenatal diagnosis and genetic counseling. [Extracted from the article]

A recent study conducted at the University Hospital Center in Toulouse, France, focused on the management of congenital ichthyosis, a group of genetic skin diseases characterized by scaling and inflammation. The study found that the diagnosis of ichthyosis is complex and requires clinical expertise. While there are currently no curative therapies, the study provides evidence-based recommendations to help clinicians manage these rare and complex diseases. The research was supported by the Ministry of Health and has been peer-reviewed. [Extracted from the article]

A recent study conducted at the University of Naples in Italy focused on ichthyosis, a group of rare skin disorders. The researchers used molecular analysis to classify 17 unrelated Italian patients with congenital nonsyndromic ichthyosis. They identified the genetic causes of the disease in all patients, including novel variants. The study expands the understanding of the genetic, mutational, and phenotypic spectra of inherited ichthyosis and provides valuable insights into the early diagnosis and management of patients affected by this condition. [Extracted from the article]

A recent study conducted by investigators at Shandong University in China has found that decreased expression of the Xeroderma Pigmentosum Group C (XPC) gene in lung cancer cells enhances their stem cell properties and leads to increased proliferation and migration. The study analyzed the effect of XPC and IFN-gamma on the clinical prognosis of patients with non-small cell lung cancer (NSCLC) and found that high expression of both markers was associated with a favorable prognosis. The researchers suggest that XPC and IFN-gamma could potentially serve as markers for clinical application in NSCLC. [Extracted from the article]

A recent study from the University of Padua provides new insights into keratitis-ichthyosis-deafness syndrome (KID), a rare genetic disorder characterized by hyperkeratosis, ichthyosis, and congenital prelingual sensorineural deafness. The study focuses on a 7-year-old girl with a unique genetic variant who developed dyskeratotic neoformations. The researchers used excisional and punch biopsies to examine the neoformations, and wound care management, including negative pressure therapy and advanced medical honey-based dressings, was necessary for complete wound healing. This research highlights the challenges and potential complications associated with KID and provides valuable information for medical professionals and patients. [Extracted from the article]

A recent report from Universitas Sriwijaya provides new insights into the genetic basis of lamellar ichthyosis, a dermatological condition characterized by dry, rough, and scaly skin. The condition affects 5-10 out of every 100,000 people worldwide and can lead to depression and a decreased quality of life. The primary gene affected in lamellar ichthyosis is TGM1, and treatment typically involves hydration, keratolytic agents, and oral retinoids. Genetic counseling is also recommended for patients and their families. This research review offers a brief discussion on the genetics of lamellar ichthyosis. [Extracted from the article]

A recent study conducted at Bambino Gesu Children's Hospital in Rome, Italy, explored the severity, phenotypic features, and genetic associations of autosomal recessive congenital ichthyoses (ARCI). The study included 74 patients with various subtypes of ARCI, and mutations in 12 different genes were identified. The severity of ichthyosis was found to be significantly higher in patients with mutations in the TGM1 and ABCA12 genes, while the lowest severity was observed in patients with mutations in the CYP4F22 gene. The study also identified specific clinical signs associated with certain gene mutations, such as alopecia and ectropion with TGM1 and ABCA12 mutations. Additionally, psoriasis-like lesions were found in NIPAL4-ARCI patients, which could have diagnostic and therapeutic implications. The study expands our understanding of the phenotypic and genetic characteristics of ARCI. [Extracted from the article]

Cockayne syndrome is a severe genetic disorder that affects DNA repair mechanisms. Individuals with this syndrome experience a range of symptoms, including facial deformities, growth failure, neurological impairments, and premature aging. Researchers from Ludwig-Maximilians-Universitat Munchen have discovered new insights into the role of specific genes involved in Cockayne syndrome and their function in repairing DNA-protein interactions during transcription. This newly discovered function of these genes may help explain the differences between Cockayne syndrome and xeroderma pigmentosum, another DNA repair disorder. Further research is needed to fully understand the repair process mediated by these genes. [Extracted from the article]

A report from Nagoya University Graduate School of Medicine in Aichi, Japan, discusses the findings of a study on ichthyosis, a group of genetic skin disorders. The study aimed to identify new pathogenic variants in the ABCA12 gene and update the understanding of genotype-phenotype correlations in ichthyosis patients. The researchers identified 11 previously unreported ABCA12 variants and confirmed their pathogenicity through genetic analysis. The study expands the understanding of the disease and its severity in affected individuals. The research was funded by various organizations, including the Ministry of Health, Labour and Welfare and the Japan Society for the Promotion of Science. [Extracted from the article]

A study conducted by the All India Institute of Medical Sciences (AIIMS) in Bihar, India, explores the genetic inheritance of non-syndromic autosomal recessive congenital ichthyosis (ARCI) and its rare coincidence with beta-thalassemia. ARCI is a group of Mendelian disorders of cornification, and it can be classified into syndromic and non-syndromic types. The study describes a case of a child with congenital ichthyosis, hepatosplenomegaly, and anemia, initially suspected to have syndromic-ARCI but later diagnosed with beta-thalassemia. The report highlights the unexpected association between these two autosomal-recessive diseases and provides genetic counseling to the parents. [Extracted from the article]

Azitra, Inc., a clinical-stage biopharmaceutical company, has reported its financial results for the full year of 2023 and provided updates on its business activities. Highlights include completing an initial public offering, obtaining clearance for a Phase 1b clinical trial in Netherton syndrome, advancing other programs, strengthening its intellectual property portfolio, and making key personnel additions. The company is focused on developing innovative therapies for precision dermatology, targeting various skin conditions and diseases. Azitra's CEO, Francisco Salva, expressed confidence in the company's progress and highlighted upcoming milestones, including the enrollment of the first patient and the release of initial clinical data. [Extracted from the article]

A patent application by Japan Tobacco Inc. has been made available online for a "Skin Barrier Function Improving Agent." The inventors have discovered that a JAK inhibitor can increase the expression of proteins related to skin barrier function, such as filaggrin, loricrin, involucrin, and b-defensin 3. They have also found that the JAK inhibitor can improve the moisturizing function of the stratum corneum and accelerate the reduction of transepidermal water loss in a dry skin mouse model. The invention aims to provide a novel pharmaceutical use for JAK inhibitors in treating or preventing various skin diseases caused by deterioration in the skin barrier function, including senile xerosis, asteatosis, eczema, contact dermatitis, ichthyosis vulgaris, Netherton syndrome, and type B peeling skin syndrome. [Extracted from the article]

A recent report from Universitas Syiah Kuala in Banda Aceh, Indonesia, discusses a fatal case of Harlequin ichthyosis, a severe and fatal form of ichthyosis. The case involved a 3-day-old baby with congenital abnormalities, fissured hyperkeratotic skin, and thick yellow scales. Despite treatment in the neonatal intensive care unit, the baby passed away at 5 days old. The report emphasizes the importance of prenatal diagnosis for early detection and disease prevention, and suggests mutation screening for consanguineous marriages and individuals with a history of ichthyosis. [Extracted from the article]

A recent report from National Cheng Kung University Hospital in Tainan, Taiwan, discusses the use of tofacitinib, a Janus kinase inhibitor, as a potential treatment for autosomal recessive congenital ichthyosis (ARCI). The study focused on a 27-year-old man with ARCI and found that treatment with oral tofacitinib resulted in rapid improvements in skin symptoms, such as erythema and fissuring, as well as reductions in itch and improvements in quality of life. Tofacitinib was also found to down-regulate inflammatory genes and pathways while enhancing skin barrier markers. The study suggests that tofacitinib may be a useful therapy for patients with ARCI. [Extracted from the article]

Researchers at the Shandong Provincial Institute of Dermatology and Venereology in China have reported on a rare case of multiple basal cell carcinomas in a 15-year-old boy with xeroderma pigmentosum (XP). XP is a rare genetic disease characterized by photosensitivity and an increased risk of skin cancer. The researchers emphasize the importance of early diagnosis, educating patients to avoid UV radiation, and regular follow-up to detect and treat skin tumors. The study discusses the treatment options for different stages of the disease. This research has been peer-reviewed and provides valuable insights into the understanding and management of this condition. [Extracted from the article]

Researchers from Imam Abdulrahman Bin Faisal University in Saudi Arabia have conducted a case study on Sjogren-Larsson syndrome (SLS), a rare genetic disorder characterized by ichthyosis, intellectual disability, and spastic quadriplegia or diplegia. The study focused on a six-year-old female patient with SLS who presented with an abnormal gait and generalized pruritis. Genetic testing revealed a unique mutation in the ALDH3A2 gene that has not been previously reported. The researchers emphasize the importance of reporting such cases to gain insights into the potential effects of these mutations. [Extracted from the article]