13 citations
,
June 2024 in “Frontiers in Genetics” About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
15 citations
,
January 2013 in “European Journal of Pediatrics” Patients with Shwachman-Diamond syndrome often get misdiagnosed due to a wide range of symptoms, including immune system problems and bone abnormalities.
Suppressing ODC activity reduces tumor growth in hair follicles.
30 citations
,
August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
15 citations
,
August 2022 in “The Application of Clinical Genetics” ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
September 2022 in “Journal of The American Academy of Dermatology” Combining dutasteride mesotherapy with oral minoxidil is more effective for hair loss than using oral minoxidil alone.
July 2023 in “Clinical, cosmetic and investigational dermatology” Reflectance confocal microscopy helped tell periorificial dermatitis apart from similar skin conditions.
18 citations
,
January 2002 in “Pediatric Dermatology” A rare skin condition in children can look like other diseases.
January 2017 in “International journal of biomedical engineering and clinical science” Cri-du-chat syndrome can cause skin and oral lesions affecting nutrition and quality of life.
22 citations
,
February 2008 in “Journal of Neurochemistry” Minoxidil prevents serotonin loss from MDMA by affecting potassium channels and increasing Akt phosphorylation.
2 citations
,
November 2022 in “Skin research and technology” 5% topical minoxidil improves hair density and quality in monilethrix patients.
7 citations
,
February 2010 in “British Journal of Dermatology” A woman with a rare autoimmune disorder had a blister on her eye and unique immune reaction, which was effectively treated with medication.
1 citations
,
March 2019 in “Konuralp tıp dergisi” MS patients often have skin issues, so regular skin checks are important.
January 2026 in “Open Science Framework” Some treatments for multiple sclerosis can cause hair loss.
1 citations
,
November 2016 in “Frontiers in neurology” Steroid treatment improved both gut and nerve symptoms in a man with Cronkhite–Canada syndrome.
2 citations
,
November 2025 in “Pharmaceutics” Cell-mediated drug delivery systems improve skin disease treatment by using living cells for precise, prolonged, and less toxic therapy.
8 citations
,
January 2005 in “SKINmed Dermatology for the Clinician” FMF and mycosis fungoides are variants of the same disease, and bexarotene can be an effective treatment.
18 citations
,
January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
2 citations
,
February 2024 in “Journal of the European Academy of Dermatology and Venereology” The study created a 27-item measure to assess the impact of skin diseases.
11 citations
,
January 1999 in “Dermatology”
5 citations
,
January 2018 in “Annals of Dermatology” A 308 nm excimer laser successfully treated a boy with a rare skin condition after about a year of weekly sessions.
49 citations
,
November 2012 in “Journal of neurology, neurosurgery and psychiatry” Non-motor symptoms in myasthenia gravis are common and need early diagnosis for better management.
12 citations
,
July 2004 in “Molecular genetics and genomics” A new mouse mutation causes skin and hair defects due to a gene change.
7 citations
,
June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
144 citations
,
December 2017 in “Pigment cell & melanoma research” Melasma is now considered a skin aging disorder caused by sun exposure in people with a genetic tendency, which impacts treatment and prevention approaches.
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
2 citations
,
May 2023 in “International Journal of Molecular Sciences” Gene expression in hair follicles can help diagnose methamphetamine use disorder.
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
July 2025 in “Journal of Investigative Dermatology” Monocyte-derived dendritic cells play a key role in UVB-induced skin sensitivity and inflammation.
694 citations
,
April 2000 in “Nature genetics” Msx2 deficiency in mice leads to bone growth and organ development problems.