January 2022 in “Function” Studying rare genetic disorders can help us understand and treat common diseases better.
1 citations
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March 2023 in “Medicine” The combination therapy is effective and well-tolerated for treating esophageal cancer.
June 2024 in “Trends in Urology & Men s Health” Post-finasteride syndrome is rare but serious and should be taken seriously.
160 citations
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April 2014 in “Drug discovery today” Melatonin helps regulate sleep and may aid in treating various health issues.
1 citations
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November 2021 in “Biomedicines” Understanding how acne develops in different diseases could lead to new treatments.
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.
142 citations
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March 2019 in “Molecules/Molecules online/Molecules annual” Cannabinoids may help treat various skin conditions.
80 citations
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March 2004 in “Neuropediatrics” Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
18 citations
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October 2021 in “Frontiers in Physiology” Lipocalin-Type Prostaglandin D2 Synthase (L-PGDS) is a protein that plays many roles in the body, including sleep regulation, pain management, food intake, and protection against harmful substances. It also affects fat metabolism, glucose intolerance, cell maturation, and is involved in various diseases like diabetes, cancer, and arthritis. It can influence sex organ development and embryonic cell differentiation, and its levels can be used as a diagnostic marker for certain conditions.
9 citations
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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.
9 citations
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July 2016 in “Genes” Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
2 citations
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July 2021 in “Actas dermo-sifiliográficas/Actas dermo-sifiliográficas” Hair shaft disorders are diagnosed through examination and history, with general care and some treatments offering improvement.
October 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” The conference concluded with plans for joint research into children's skin conditions and emphasized the importance of collaboration and patient-focused research.
5 citations
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January 2020 in “The mental health clinician” Vitamin D supplements may reduce hair-pulling in people with Trichotillomania.
9 citations
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December 2020 in “International Journal of Medical Sciences” iPSCs help understand and treat neurodevelopmental disorders.
71 citations
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January 2011 in “Orphanet Journal of Rare Diseases” IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
61 citations
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June 2022 in “Journal of Controlled Release” Dissolving microneedles show promise for delivering medication through the skin but face challenges like manufacturing complexity and regulatory hurdles.
January 2023 in “Brazilian Journals Editora eBooks” Girls with Autism Spectrum Disorder may show different symptoms than boys, leading to missed or delayed diagnoses.
87 citations
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July 2018 in “Nursing Clinics of North America” PCOS is a common hormonal disorder in women, marked by symptoms like hair growth and menstrual issues, and requires personalized treatment.
9 citations
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March 2012 in “Experimental dermatology” Natural gene therapy shows promise for treating skin disorders like epidermolysis bullosa.
September 2025 in “Cermin Dunia Kedokteran” Early detection and management of cognitive disorders in primary care are crucial for effective treatment.
7 citations
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July 2011 in “Survey of Ophthalmology” The document concludes that periocular hair disorders have various causes and treatments, and proper evaluation by specialists is important for management and prognosis.
5 citations
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September 2015 in “Nepalese journal of ophthalmology” An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
October 2025 in “Indian Journal of Physiology and Pharmacology” Early diagnosis and treatment of endocrine disorders like HAIR-AN syndrome can improve outcomes in adolescents.
May 2025 in “The Journal of Rheumatology” Purpura fulminans can signal underlying autoimmune disorders, not just infections.
October 2022 in “Rheumatology (Bulgaria)” Accurate diagnosis of progressive supranuclear palsy requires thorough neurological assessments and MRI.
5 citations
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January 2017 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” Porokeratotic eccrine and hair follicle nevus is a very rare skin disorder possibly caused by a GJB2 gene mutation.
2 citations
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July 1999 in “Liver transplantation and surgery” Liver transplant can lead to neurological, pulmonary, cardiovascular, and renal complications, with older patients facing higher risks.
13 citations
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December 2010 in “Nature Reviews Endocrinology” A young man with an eating disorder had a life-threatening adrenal crisis due to an autoimmune condition, highlighting the need for better education on managing hormone treatments.
An infant with a zinc deficiency skin disorder improved with zinc treatment.