20 citations
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February 2004 in “Clinical and Experimental Ophthalmology” Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.
4 citations
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May 2023 in “Cells” Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
85 citations
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March 2008 in “Journal of Cell Science” The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
6 citations
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December 2023 in “Journal of Clinical Medicine” Abnormal growth factor metabolism may link psoriasis and metabolic syndrome, and obesity can affect psoriasis treatment effectiveness.
5 citations
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August 2021 in “Journal of biological chemistry/The Journal of biological chemistry” Retinoic acid affects male and female muscle energy use and function differently.
3 citations
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November 2019 in “Journal of the ASEAN Federation of Endocrine Societies” A 20-year-old woman with a rare form of Turner syndrome showed improvement with hormonal therapy and needs comprehensive care.
November 2025 in “Skin Health and Disease” Autosomal recessive woolly hair is rare and involves tightly coiled hair without other health issues.
May 2025 in “Clinical Medicine Insights Case Reports” Kindler Syndrome shows diverse symptoms and needs better diagnostic tools and care in resource-limited areas.
July 2023 in “Journal of allergy and clinical Immunology. Global” A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
3 citations
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July 2024 in “Frontiers in Medicine” Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
60 citations
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July 2020 in “ACS Nano” Using CRISPR for gene editing in the body is promising but needs better delivery methods to be more efficient and specific.
14 citations
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March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
February 2024 in “Brain research bulletin” Blocking androgen activity in newborn rats affects body weight and appetite-related hormones differently in males and females.
July 2023 in “Media Dermato Venereologica Indonesiana” Early diagnosis, stopping the suspected drug, and supportive care are crucial for treating Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis.
August 2023 in “Acta Scientific Paediatrics” A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
25 citations
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June 2017 in “Molecular and Cellular Endocrinology” Using anabolic androgenic steroids can cause serious, lasting health problems in many parts of the body.
June 2000 in “British Journal of Clinical Psychology” The reviews critique three psychology books, noting skepticism about a personality inventory for teens, praising a practical guide on body image issues, and recommending a book on grief therapy.
MFN2 mutations cause mitochondrial problems, leading to more upper body fat and lower leptin levels.
MFN2 mutations cause mitochondrial problems, unusual fat distribution, and low leptin despite high body fat.
2 citations
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January 2005 in “Elsevier eBooks” The document describes skin diseases affecting the outer ear in dogs and cats, their spread to other body parts, and treatment options.
11 citations
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September 2021 in “Anais Brasileiros de Dermatologia” The conclusion is that early diagnosis of skin signs linked to diseases like Lupus, Dermatomyositis, and Rheumatoid Arthritis is crucial to prevent serious complications.
March 2024 in “Indian Journal of Dermatology” The man was diagnosed with Cronkhite-Canada syndrome, a rare disorder with GI polyps, skin issues, hair loss, and nail problems.
6 citations
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January 2019 in “Journal of Cutaneous and Aesthetic Surgery” Follicular unit extraction is an effective hair transplant method for advanced baldness with high patient satisfaction, but some experienced decreased density over time.
2 citations
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March 2022 in “Indian Journal of Psychiatry/Indian journal of psychiatry” The conclusion is that careful management of both psychiatric and skin conditions is crucial for HIV patients, using medication and interdisciplinary approaches.
A genetic variant in the KRT71 gene may cause loose anagen hair and wooly hair, and symptoms might improve with age.
March 2022 in “Practical Diabetes” Hair conditions can be linked to diabetes and affect psychological health.
October 2025 in “Medicine” A potential link exists between unexplained hormone deficiency, hair loss, and testicular tumors, suggesting thorough screening is needed.
May 2025 in “Indian Dermatology Online Journal” Trichoscopy is crucial for diagnosing rare genetic hair disorders.
February 2021 in “International journal of men's social and community health” Online forums help understand men's concerns about baldness and show the need for better support that changes how baldness is viewed.
74 citations
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July 2008 in “Journal of Dermatological Case Reports” Trichoscopy is a quick and easy way to diagnose most genetic hair problems without invasive methods.