March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
7 citations
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May 2019 in “European Journal of Human Genetics” BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
July 2023 in “Developmental medicine and child neurology/Developmental medicine & child neurology” DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
20 citations
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February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
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.
100 citations
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June 2011 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
1 citations
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March 2023 in “European Journal of Human Genetics” The UK's EDS National Diagnostic Service found that early diagnosis, lifestyle advice, and regular check-ups are crucial for managing vascular Ehlers-Danlos syndrome. A combination of losartan and bisoprolol can reduce vascular events, improving survival and quality of life.
November 2019 in “Harper's Textbook of Pediatric Dermatology” The document is a detailed medical reference on skin and genetic disorders.
36 citations
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January 2012 in “International Journal of Trichology” Losing eyelashes or eyebrows can be a sign of many different health problems and needs a careful approach to treat effectively.
157 citations
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May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
1 citations
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May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
12 citations
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May 2001 in “British journal of dermatology/British journal of dermatology, Supplement” A rare benign skin tumor showed unusual features of sebaceous and sweat glands, important for correct diagnosis.
3 citations
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November 2010 in “Rheumatic Diseases Clinics of North America” Pregnancy can cause symptoms similar to rheumatic diseases, making diagnosis difficult, and affects various body systems, requiring careful distinction between normal changes and serious conditions.
46 citations
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July 1988 in “Journal of The American Academy of Dermatology” Hormone imbalances can cause specific skin changes, which may help in early detection of endocrine disorders.
4 citations
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December 2022 in “International Journal of Molecular Sciences” Zinc is crucial for skin health and treating various skin disorders.
May 2004 in “Pediatric Dermatology” Atopic dermatitis may have genetic causes and can be treated with pharmacologic methods, glycerin creams, and controlling Staphylococcus aureus colonization.
31 citations
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August 2022 in “Frontiers in Oncology” Photobiomodulation therapy helps manage cancer treatment side effects but needs more research for optimization.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
May 2015 in “Journal of The American Academy of Dermatology” Minoxidil response testing helps predict hair growth success.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” Tight hairstyles can cause a rare scalp condition with thick skin folds.
56 citations
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April 2015 in “American journal of medical genetics. Part A” Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
5 citations
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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.
1 citations
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May 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” Oral tofacitinib significantly improves lichen planopilaris symptoms without adverse effects.
1 citations
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January 2017 in “Elsevier eBooks” Understanding skin structure and development helps diagnose and treat skin disorders.
May 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” Samcyprone ointment is effective for treating common warts if a sensitization reaction occurs first.
May 2024 in “Animal genetics” A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
5 citations
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December 2014 in “Molecular cytogenetics” A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
1 citations
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July 2022 in “IntechOpen eBooks” Collagen is crucial for health and treating certain diseases, and supplements can improve skin, nails, and hair conditions.
August 2022 in “Journal of Comprehensive Pediatrics” A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.