research Phenotypic variation in biotinidase deficiency
Biotinidase deficiency has various symptoms and can be treated with biotin supplements.
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750-780 / 1000+ results research Cases Report the Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
research Grahams Little Piccardi Lausseur Syndrome - A Rare Case Report with Review of Literature
Early diagnosis of GLPLS is crucial to prevent complications, but scarring alopecia is irreversible.
research A Rare Case of Cronkhite-Canada Syndrome
Early diagnosis and nutritional support are crucial for managing Cronkhite-Canada Syndrome.
research Mesenchymal stem cell therapy for liver disease: full of chances and challenges
Mesenchymal stem cell therapy shows promise for liver disease but faces challenges in standardization and approval.
research Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
research A case of eruptive lichen spinulosus after toxic epidermal necrolysis
A boy developed a rare skin condition after recovering from a severe skin reaction, and it improved with lotion treatment.
research Banding Pattern on Polarized Hair Microscopic Examination and Unilateral Polymicrogyria in a Patient With Steroid Sulfatase Deficiency
A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
research Woodhouse-Sakati Syndrome with Unique Unreported Previous Findings
Woodhouse-Sakati Syndrome can include unique symptoms like liver issues and low growth hormone.
research Nevus Lipomatosus Superficialis With Dilated Hair Follicles
Accurate diagnosis of NLS with dilated hair follicles is crucial to distinguish it from other conditions.
research Ichthyosis and Trichothiodystrophy: the Tay and PIBI(D)S Syndromes
Tay syndrome is a unique genetic disorder causing skin, hair, and developmental issues.
research Resident macrophages of the lung and liver: The guardians of our tissues
Lung and liver macrophages protect our tissues and their dysfunction can cause various diseases.
research Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
research Understanding the Role of Type I Interferons in Cutaneous Lupus and Dermatomyositis: Toward Better Therapeutics
A 29-year-old female with clinically amyopathic dermatomyositis presented with persistent cutaneous symptoms, including a pruritic rash, hair loss, and severe scalp pruritus, despite treatment with methotrexate and mycophenolate mofetil. This case underscores the challenges in managing skin manifestations in dermatomyositis and cutaneous lupus erythematosus (CLE), particularly the role of type I interferons (IFN) in the pathogenesis and treatment of these conditions. The study raises questions about the potential for IFN-targeted therapies to improve outcomes in patients with skin disease associated with CLE and DM.
research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods”
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research Diagnostic dilemma: Multiple Autoimmune Syndrome versus incomplete Graham-Little-Piccardi-Lassueur Syndrome overlap mixed connective tissue disease
The case shows how hard it is to tell apart Multiple Autoimmune Syndrome from other similar autoimmune conditions, but correct diagnosis is key for treatment to work.
research miR-761-hepcidin/Gpx4 pathway contribute to unexplained liver dysfunction in polycystic ovary syndrome by regulating liver iron overload and ferroptosis
Liver damage in PCOS is linked to iron overload and cell death due to the miR-761-hepcidin/GPX4 pathway.
research Novel Insights into TSC22D Family Genes in Metabolic Diseases and Cancer
TSC22D genes are key in metabolic diseases and cancer, offering potential as treatment targets.
research Rabson-Mendenhall syndrome: two case reports and a brief review of the literature
The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.
research Lichen myxedematosus in a patient with hepatocellular carcinoma
Removing the liver tumor improved the patient's skin condition and hair growth.
research Strange cutaneous abnormalities and polyposis in an Asiatic man
A Laotian man with unusual skin changes and multiple growths in his gut was diagnosed with Cronkhite-Canada Syndrome and improved with nutritional and immune-based treatments.
research SP0227 Case 1 Presentation: Arthritis, Lupus and More. Rhupus or Polyautoimmunity?
Managing multiple autoimmune diseases in one patient is very challenging.
research Vitamin D‐dependent rickets type I and type II
VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.
research Multimodal therapeutic approach for a severe case of kaposiform lymphangiomatosis from procedural interventions to targeted therapies
Trametinib can effectively treat severe kaposiform lymphangiomatosis when other treatments fail.
research Dermatopathology and molecular genetics
Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
research In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis
Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
research Lucio Phenomenon: Sequelae of Neglected Leprosy
Early diagnosis of leprosy is crucial to prevent disabilities and spread, even in non-endemic areas.
research Heterozygous Variants of the SLC39A4 Gene and Possible Increased Risk for Developing Acrodermatitis Enteropathica with Kaposi’s Varicelliform Eruption
Genetic testing is crucial for diagnosing and treating acrodermatitis enteropathica effectively.
research Autosomal recessive hereditary hypotrichosis simplex: A case report
A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
research Genosomes: An introspection into transfection, future perspectives and applications
Genosomes are promising for safe and effective gene delivery in therapy.