research Mechanisms of autophagy and their implications in dermatological disorders
Targeting autophagy can help treat skin disorders like vitiligo and atopic dermatitis.
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690-720 / 1000+ resultsresearch Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review
New LSS gene variants help understand congenital hypotrichosis 14 better.
research Lipedematous alopecia: an uncommon clinicopathologic variant of nonscarring but permanent alopecia
Lipedematous alopecia causes permanent hair loss due to increased scalp fat.
research TRAPPED IN THE HYPOGLYCEMIA LOOP
Early advanced therapies are crucial for better survival in aggressive insulinoma cases.
research Late presentation of biotinidase deficiency with acute visual loss and gait disturbance
Biotinidase deficiency can cause vision and walking problems in children and can improve with biotin treatment.
research Outcomes of paediatric patients with chronic liver disease in early adulthood: A heterogeneous, but representative, regional cohort study
Young adults who had liver disease as children often experience significant health problems and frequently need transplants.
research Epilepsy and Neurodegeneration: Clues in the Hair and Blood Vessels!
The document concludes that specific hair and blood vessel abnormalities in infants with seizures and developmental issues may indicate Menkes disease, which lacks a cure and is often fatal by age 3.
research BH03 Lipoedematous scalp occurring in two female siblings: further evidence of a genetic role?
Two sisters with lipoedematous scalp suggest a genetic influence in the condition.
research The emerging role of cellular senescence in amyotrophic lateral sclerosis
Cellular senescence may play a role in ALS, and anti-senescence therapies could be a promising treatment.
research A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
CARASIL can cause different symptoms even with the same genetic mutation.
research ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy
ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
research Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy
The patient's hair was thinner and had fewer lipids due to a genetic mutation.
research Letter from Brisbane [Letters to editor]
A Japanese patient with a rare genetic disorder had a less severe case than others, suggesting other factors may affect symptoms.
research Index of Suspicion
Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
research P095 The Very Interesting Small Bowel Lesions of Cronkhite-Canada Syndrome
Small bowel lesions in Cronkhite-Canada syndrome persist despite steroid treatment.
research Loss of adipocyte phospholipase gene PLAAT3 causes lipodystrophy and insulin resistance due to inactivated arachidonic acid-mediated PPARγ signaling
Not having the gene PLAAT3 leads to fat loss, high insulin resistance, and abnormal fat levels in the blood due to a disruption in fat cell development and function.
research Decades of progressive red and yellow nodules
A 72-year-old man was diagnosed with a rare skin form of Rosai-Dorfman disease after years of misdiagnosis.
research A Case of 300 Pound Weight Loss, Malabsorption, Malnutrition and Protein Losing Enteropathy Due to Systemic Lupus Erythematosis of the Small Intestine
Recognizing lupus as a cause of severe gut issues is crucial for effective treatment.
research Three-dimensional models: from cell culture to Patient-Derived Organoid and its application to future liposarcoma research
3D models and organoids improve liposarcoma research and therapy development.
research Insight into the pathogensis of polycystic ovarian syndrome
The document's conclusion cannot be provided because the document is not accessible or understandable.
research Maladies systémiques associées à la cirrhose biliaire primitive : à propos de 10 cas
Early detection and treatment of primary biliary cirrhosis and related autoimmune diseases improve outcomes.
research A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10
Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
research AN UNUSUAL CASE OF LYMPHOCYTIC ENTEROCOLITIS AND VASCULITIS AS THE INITIAL MANIFESTATION OF SLE
SLE can cause unusual gastrointestinal symptoms, and immunosuppressive therapy can be effective.
research Neuropsychiatric Systemic Lupus Erythematosus Presenting as Bipolar I Disorder With Catatonic Features
A girl initially thought to have a psychiatric disorder was later found to have a lupus-related condition, which improved with proper treatment.
research Congenital hair loss disorders: Rare, but not too rare
Some hair loss disorders are caused by genetic mutations affecting hair growth.
research Molecular Genetics of Inherited Disorders of Epidermal Keratins
Mutations in keratin genes cause skin disorders, but new treatments show promise.
research Skin fragility, diffuse ecchymosis and blisters on a yellowish waxy base
A woman's skin symptoms led to a diagnosis of systemic AL amyloidosis, but she died from sepsis shortly after.
research Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
research Harlequin fetus with abnormal lamellar granules and giant mitochondria
Harlequin ichthyosis involves abnormal skin cell structures and giant mitochondria, affecting skin and hair.
research Acrodermatitis enteropathica – diagnostic challenges
Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.