152 citations
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April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
28 citations
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August 2018 in “Dermatologic Clinics” Trichoscopy is a useful tool for diagnosing hair and scalp issues, but doctors must be careful to avoid mistakes.
19 citations
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August 2020 in “Gastroenterology report” There is no standard treatment for the rare Cronkhite–Canada syndrome, which can be fatal and lead to cancer.
10 citations
,
March 2024 in “Endocrine Reviews” Significant progress was made in understanding androgen excess disorders, but much is still unknown.
6 citations
,
August 2022 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” New genetic mutations linked to rare skin disorders were found in three newborns.
6 citations
,
August 2022 in “International Journal of Molecular Sciences” EDA signaling is linked to skin disorders, various cancers, and liver disease.
3 citations
,
January 2012 in “Elsevier eBooks” The document says that there are treatments for hair and nail diseases.
April 2024 in “Vestnik oftalʹmologii” Stopping minoxidil and using prostaglandin analogues improved the man's eye condition.
January 2024 in “Wiadomości Lekarskie” Effective epilepsy management involves accurate diagnosis, understanding seizure types, identifying causes, and choosing the right treatment.
August 2023 in “Journal of The American Academy of Dermatology” Early treatment is key for permanent hair loss disorders, with options ranging from medications and phototherapy to immunomodulators and antibiotics, depending on severity and type.
July 2023 in “Clinical, cosmetic and investigational dermatology” Plica neuropathica can be a sign of schizophrenia and improves with antipsychotic treatment.
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
May 2022 in “European medical journal” An 11-year-old girl with a hair-pulling disorder had a hairball in her stomach and was treated with medication, therapy, and a team of doctors.
April 2018 in “Journal of Investigative Dermatology” Macrophages are more involved in Lichen planopilaris than in Frontal fibrosing alopecia.
April 2012 in “Journal of evolution of medical and dental sciences” No effective treatment exists to stimulate hair growth in atrichia with papular lesions.
January 2016 in “International journal of basic and clinical pharmacology” Steroid use can cause a rare eye condition called central serous retinopathy, which can lead to permanent vision damage.
1 citations
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November 2025 in “Frontiers in Immunology” More research is needed to understand and manage rheumatoid arthritis better.
September 2025 in “Cureus” Early recognition and multidisciplinary management are crucial for improving outcomes in Parry-Romberg syndrome.
Early biotin treatment can reverse symptoms of congenital biotinidase deficiency.
6 citations
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December 2004 in “Anais Brasileiros de Dermatologia” Some family members had a condition with both loose hair and unique eye changes, possibly indicating a new type of ectodermal dysplasia.
245 citations
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March 2012 in “Journal of The American Academy of Dermatology” Dermatoscopy is useful for identifying different hair and scalp conditions and can reduce the need for biopsies.
22 citations
,
July 2016 in “Cellular and Molecular Life Sciences” Genetic changes in mice help understand skin and hair disorders, aiding treatment development for acne and hair loss.
15 citations
,
August 2019 in “F1000Research” CMG2 and TEM8 receptors have distinct roles in skin and growth disorders, affecting collagen breakdown and growth.
5 citations
,
February 2022 in “Molecular genetics & genomic medicine” New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
4 citations
,
May 2024 in “INTERANTIONAL JOURNAL OF SCIENTIFIC RESEARCH IN ENGINEERING AND MANAGEMENT” AI can accurately diagnose hair and scalp conditions and suggest treatments.
1 citations
,
October 2025 in “Micromachines” Portable point-of-care testing can improve quick and accurate genetic disorder detection.
1 citations
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April 2023 in “Frontiers in Genetics” The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.
November 2025 in “Journal of Saidu Medical College Swat” Biotinidase deficiency can mimic other conditions, making early diagnosis and treatment crucial to prevent lasting issues.
August 2024 in “Journal of Personalized Medicine” Tamsulosin increases the risk of floppy iris during eye surgery.
July 2023 in “Journal of ayurveda and integrated medical sciences” Ayurvedic treatment can help manage PCOS symptoms.