4 citations
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February 1988 in “Journal of the American Academy of Dermatology” Congenital triangular alopecia is more common than thought and some treatments can be beneficial for appearance concerns.
1 citations
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January 1992 in “DNA sequence” Researchers found a non-functional sheep keratin gene due to mutations.
10 citations
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April 2004 in “Journal of the American Academy of Dermatology” Localized hair growth and fat loss may share a common cause in lupus panniculitis.
April 2020 in “Journal of the Endocrine Society” A toddler with unusual hypothyroidism symptoms improved with levothyroxine treatment.
211 citations
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February 1994 in “Proceedings of the National Academy of Sciences” Too much parathyroid hormone-related protein in skin disrupts hair growth in mice.
November 2011 in “Journal of Investigative Dermatology” TRH in hair follicles can influence hair color by increasing melanin.
24 citations
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July 2014 in “Journal of Investigative Dermatology” Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
18 citations
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January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
April 2023 in “Journal of Investigative Dermatology” 5 citations
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March 2005 in “Pediatric dermatology” Keratosis Follicularis Spinulosa Decalvans is a rare genetic disorder causing skin and hair issues, often inherited through the X chromosome.
October 2020 in “Benha Journal of Applied Sciences” Troponin I may help detect heart problems in people with Androgenetic Alopecia.
March 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” Removing a specific gene in certain skin cells causes hair loss on the body by disrupting normal hair development.
July 2020 in “Nepalese journal of ophthalmology” A boy with progeria had eye problems and signs of aging like hair loss and skin wrinkling.
28 citations
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February 2012 in “PLoS ONE” A PKP1 gene mutation causes skin fragility and hair loss in Chesapeake Bay retriever puppies.
February 2023 in “JAAD case reports” Reducing immunosuppression and using antiviral creams improved the woman's skin condition.
5 citations
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December 1964 in “Australasian journal of dermatology” Congenital atrichia is a rare condition where children are born without hair, and treatment is often ineffective.
January 2022 in “Open Access Macedonian Journal of Medical Sciences” A 5-year-old boy with alopecia totalis had temporary hair regrowth with treatment but relapsed, highlighting the need for thorough investigation and holistic care.
5 citations
,
July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
9 citations
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December 2012 in “Indian Journal of Dermatology Venereology and Leprology” Two sisters had rare, widespread cysts and complete hair loss, suggesting a genetic link.
2 citations
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June 2016 in “PubMed” An 11-year-old girl with compulsive hair pulling was successfully treated with therapy and medication.
January 2006 in “DOAJ (DOAJ: Directory of Open Access Journals)” Loose anagen hair syndrome causes easily pulled, thin hair in kids but is harmless and temporary.
13 citations
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January 2018 in “Skin Appendage Disorders” Dermoscopy improves diagnosis and treatment planning for trichostasis spinulosa.
3 citations
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March 2017 in “International journal of women’s dermatology” Some domesticated animals have the same genetic skin diseases as humans, which can help doctors understand human genetic mutations.
39 citations
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April 2018 in “Hormones” No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
11 citations
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January 2020 in “BMC pediatrics” New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
January 2025 in “Mansoura Medical Journal” TPO antibodies can help identify hypothyroid patients who still have symptoms despite normal TSH levels.
12 citations
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October 1996 in “Dermatologic clinics” Advances in genetics may lead to targeted treatments for hair disorders.
October 2025 in “International Journal of Dermatology” JAK inhibitors may help treat certain types of hair loss, but more research is needed.
November 2007 in “Pediatrics in review” A boy with long QT syndrome was treated successfully, highlighting the need for careful evaluation of chest pain in children for heart conditions like LQTS.
69 citations
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January 2015 in “Cell & tissue research/Cell and tissue research” Keratin mutations cause skin diseases and could lead to new treatments.