26 citations
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July 2019 in “Dermatology and Therapy” The conclusion is that genetic testing is important for diagnosing and treating various genetic hair disorders.
21 citations
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May 2024 in “American Journal of Medical Genetics Part A” Myhre syndrome symptoms worsen over time, with specific genetic variants affecting severity.
2 citations
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January 2010 in “Case Reports in Medicine” Relapsing polychondritis might be linked to alopecia areata due to immune system factors.
89 citations
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January 2020 in “PubMed” Early detection and biotin treatment improve outcomes for biotinidase deficiency.
1 citations
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April 2004 in “Cancer” Imatinib mesylate can cause skin lightening, especially in Chinese patients, due to its effect on pigment production.
December 2025 in “Journal of Clinical Medicine” Surgical debridement and targeted therapies can effectively heal chronic wounds in KID syndrome.
January 2023 in “Indian dermatology online journal” A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.
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October 2023 in “Journal of Dermatological Science” 4 citations
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March 2025 in “The Journal of Dermatology” Ritlecitinib is effective and safe for hair regrowth in Asian patients with alopecia areata.
4 citations
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July 2024 in “Pharmacology Research & Perspectives” Ritlecitinib is safe and may effectively treat alopecia areata.
December 2024 in “Naunyn-Schmiedeberg s Archives of Pharmacology”
4 citations
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February 2022 in “International Journal of Molecular Sciences” Myotonic Dystrophy may age cells faster, and drugs that target aging could be potential treatments.
December 2025 in “International Journal of Molecular Sciences” Exosome-based therapies show promise for treating alopecia areata but need more research.
November 2025 in “Journal of Clinical Medicine” Alopecia areata patients should have eye check-ups due to increased risk of eye problems.
September 2025 in “Australasian Journal of Dermatology” New medications could improve treatment for severe alopecia areata in Australia.
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.
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January 2016 in “Current topics in developmental biology/Current Topics in Developmental Biology” Frizzled receptors are essential for various body development processes and maintaining certain body functions.
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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.
65 citations
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September 2014 in “Orphanet Journal of Rare Diseases” Different STUB1 gene mutations cause varied symptoms in autosomal recessive ataxias.
55 citations
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August 2024 in “Heliyon” Stem cell transplantation shows promise for treating diseases but faces challenges like safety, ethics, and cost.
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July 2018 in “Frontiers in Neurology” Myotonic dystrophy may be classified as a segmental progeroid disorder.
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June 2024 in “Pharmaceutics” Nanoformulations improve drug delivery through the skin, reducing side effects and enhancing effectiveness.
29 citations
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February 2022 in “Frontiers in Cell and Developmental Biology” Improving CRISPR/Cas systems can make gene editing more efficient and precise.
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January 2025 in “iScience” PRP helps tissue repair but lacks standard preparation methods.
23 citations
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October 2024 in “British Journal of Dermatology” Ritlecitinib effectively treats alopecia areata and is safe for long-term use in people 12 and older.
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July 2022 in “Orphanet journal of rare diseases” New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
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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.
7 citations
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January 2023 in “Frontiers in Cell and Developmental Biology” Caspases are enzymes important for both cell death and various non-lethal cell functions, affecting head development and hair growth, with different caspases playing specific roles.
4 citations
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July 2019 in “Clinics in Dermatology” The document concludes that while white skin, nail, and mucosa diseases increase skin cancer risk, they are generally harmless, especially compared to darker pigmentation conditions.
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.