8 citations
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December 2009 in “Journal of The European Academy of Dermatology and Venereology” Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
May 2025 in “Clinical Medicine Insights Case Reports” Kindler Syndrome shows diverse symptoms and needs better diagnostic tools and care in resource-limited areas.
32 citations
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April 2013 in “Anais Brasileiros de Dermatologia” The document concludes that inherited epidermolysis bullosa is a challenging genetic condition requiring multidisciplinary care and new treatments.
April 2017 in “Journal of Investigative Dermatology” Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.
SH-SY5Y cell lysate is effective for diagnosing Satoyoshi syndrome.
28 citations
,
February 2012 in “PLoS ONE” A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
November 1966 in “British Journal of Dermatology” The meeting discussed various skin conditions, treatments, and unusual cases, highlighting the effectiveness of tetracycline in treating rosacea.
18 citations
,
January 2020 in “Acta dermato-venereologica” Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
5 citations
,
October 2021 in “American Journal of Medical Genetics Part A” A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
1 citations
,
November 2021 in “Biomedicines” Understanding how acne develops in different diseases could lead to new treatments.
August 2025 in “Dermatopathology” Pilomatricomas are often linked to genetic syndromes, especially Apert syndrome, and genetic analysis is crucial for diagnosis.
November 2019 in “Harper's Textbook of Pediatric Dermatology” Understanding normal hair growth and loss in children is key to diagnosing and treating hair disorders.
September 2017 in “Pediatric Dermatology” The document concludes that an experimental drug may help wound healing in Epidermolysis Bullosa, links Hydroa vacciniforme to EBV, discusses diagnosing hair loss disorders, finds many children with eczema have allergies, reviews the safety of a skin medication in children, notes side effects of a Duchenne's treatment, and identifies a marker for pediatric mastocytosis.
3 citations
,
September 2005 in “Experimental dermatology” The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.
4 citations
,
June 2025 in “Frontiers in Immunology” BAFF-targeted therapies can reduce autoimmune disease activity, but more research is needed for precise treatments.
248 citations
,
December 2011 in “Journal of Neuroscience” Neurosteroids are crucial for stress response, and targeting specific receptors may help treat certain disorders.
31 citations
,
February 2016 in “American Journal of Men's Health” Finasteride can cause serious emotional side effects; doctors should check patients' mental health history before prescribing.
16 citations
,
September 2008 in “Dermatologic Therapy” CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
5 citations
,
January 2020 in “Wiadomości lekarskie (Warsaw Poland)” Patients with both connective tissue disease and acid reflux are more likely to have certain symptoms and physical signs.
99 citations
,
May 2013 in “Familial cancer” People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
6 citations
,
November 2024 in “Medicine International” Nearly 20% of recovered COVID-19 patients have skin issues, with hair loss and rashes being common.
188 citations
,
June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
17 citations
,
October 2020 in “Journal of Clinical Medicine” Korean patients with rosacea are more likely to have other health conditions.
9 citations
,
August 2021 in “Journal of clinical medicine” Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
96 citations
,
October 2021 in “Reproductive Sciences” Women with PCOS often experience depression and anxiety, affecting their quality of life.
3 citations
,
July 2025 in “Obesity Facts” GLP-1 receptor analogs may help improve metabolism and reproductive health in people with PCOS and obesity.
1 citations
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July 2021 in “IntechOpen eBooks” Environmental factors can cause mutations in skin proteins, leading to skin disorders.
June 2006 in “British Journal of Dermatology” The document reports unique growth lines in a child after Stevens-Johnson syndrome, skin reaction from parsnips and sun in a girl, and itchy skin with xanthomas in a boy with Alagille syndrome.
February 2020 in “Diabetologie Und Stoffwechsel” The document concludes that more research is needed to include new treatments in guidelines for Polycystic Ovary Syndrome (PCOS).
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.