A genetic variant in the KRT71 gene may cause loose anagen hair and wooly hair, and symptoms might improve with age.
97 citations
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March 2010 in “The American Journal of Human Genetics” A mutation in the KRT74 gene causes tightly curled hair.
15 citations
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July 2024 in “Current Issues in Molecular Biology” Understanding molecular processes in skin development is key to creating targeted treatments for skin disorders.
April 2026 in “International Journal of Molecular Sciences” Wnt signaling is crucial for skin, hair, and nail health and regeneration.
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.
January 2024 in “SAGE Open Medical Case Reports” The brothers have congenital ichthyosis, and the older brother's eye issues are due to different genetic mutations.
November 2023 in “Frontiers in pharmacology” Drug repositioning offers hope for new, affordable treatments for a genetic skin disorder called ARCI.
1 citations
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December 2016 in “Revista română de medicină de laborator” The NIPAL4 mutation c.527C>A is common in Romanian patients with autosomal recessive congenital ichthyosis.
August 2024 in “International Journal of Women’s Dermatology” Alopecia is common in severe cases of autosomal recessive congenital ichthyosis.
7 citations
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February 2019 in “Veterinary medicine and science” An American Bully with a genetic skin condition improved significantly with specific topical treatments.
1 citations
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December 2020 in “Acta dermato-venereologica” Some scalp sores are linked to different inherited skin conditions.
June 2025 in “Journal of Endocrinological Investigation” Adrenal disorders often cause high blood pressure in young people.
66 citations
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January 2020 in “Acta Dermato Venereologica” New genetic variants linked to inherited ichthyoses were identified, offering insights for potential gene therapy.
21 citations
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March 2018 in “American Journal Of Pathology” Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.
August 2023 in “Frontiers in Endocrinology” Mutations in mitochondrial DNA might significantly contribute to the development of Polycystic Ovarian Syndrome.
9 citations
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October 2017 in “Archivos Argentinos de Pediatria” Alopecia areata needs new treatments targeting autoimmune processes due to its emotional impact and variable treatment responses.
2 citations
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January 2019 in “Medizinische Genetik” The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
18 citations
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December 2006 in “Clinical dysmorphology” A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
9 citations
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December 2004 in “Archives of Pathology & Laboratory Medicine” The neck mass was a rare benign "wattle," surgically removed for diagnosis and appearance.
111 citations
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August 2015 in “Reviews in Endocrine and Metabolic Disorders” 5α-reductase inhibitors may cause persistent sexual dysfunction and depression, needing more research on long-term effects.
12 citations
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January 2013 in “Indian dermatology online journal” The document reports a unique case of woolly hair with a combination of conditions not previously seen together.
1 citations
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March 2023 in “Nutrients” The conclusion is that obesity should be managed with a slow, balanced approach to diet and exercise, with medication and surgery as additional options, and education and access to care are important.
1 citations
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January 2012 in “Juntendō Igaku/Juntendo igaku” A simple classification based on symptoms helps diagnose and treat inherited skin disorders in Japan.
103 citations
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October 2003 in “Birth Defects Research” Both genes and environmental factors like chemicals may contribute to the increase in hypospadias, but the exact causes are still unclear.
August 2018 in “Journal of the American Academy of Dermatology” Patients often experience long-lasting changes to their hair after stem cell transplants.
47 citations
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March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
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.
September 2021 in “Mağallaẗ al-Muẖtar li-l-ʿulūm” Two sisters have rare hair disorders causing short, fragile, kinky hair.
January 2026 in “International Journal of Science and Research (IJSR)” Unani medicine and modern dermatology both offer treatments for ichthyosis, a condition causing dry, scaly skin.
34 citations
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October 2017 in “Archivos Argentinos De Pediatria” Alopecia Areata is a complex, unpredictable autoimmune hair loss condition with limited treatment options and a significant psychological impact.