21 citations
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December 1997 in “The Journal of Dermatology” Thymectomy and high-dose prednisolone improved hair loss in a woman with alopecia areata.
6 citations
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June 2023 in “Journal of the European Academy of Dermatology and Venereology” Inflammation damages sweat ducts, causing sweat gland injury.
April 2023 in “Journal of Investigative Dermatology” Mutations in the SHH pathway in certain skin cells can cause skin tumors and abnormal hair growth.
4 citations
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November 2020 in “Acta Dermato Venereologica” Tofacitinib effectively improved severe skin symptoms in a patient with Hypohidrotic Ectodermal Dysplasia.
7 citations
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August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
46 citations
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December 1992 in “The Journal of Steroid Biochemistry and Molecular Biology” Affected males are born with ambiguous genitalia, raised as females, but develop male traits at puberty due to enzyme deficiency.
May 2018 in “European Journal of Dermatology” The first Japanese family with Marie Unna hereditary hypotrichosis showed hair condition improvement in a child and highlighted the risk of misdiagnosis.
February 2026 in “Journal of Chittagong Medical College Teachers Association” A 17-year-old girl with Kartagener's syndrome also has unusual skin, hair, and nail issues.
1 citations
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February 1977 in “Archives of Dermatology” Fresh plasma transfusions did not help treat Leiner disease in an infant.
1 citations
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October 2023 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” A man developed skin lesions as a side effect of a gamma secretase inhibitor used for treating a tumor.
May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Loss of TET2 increases the risk of skin and oral cancer.
February 2023 in “Cosmoderma” An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
4 citations
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May 2023 in “Cells” Baricitinib and its combination with lonafarnib improve fat cell formation in certain genetic disorders.
69 citations
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May 2002 in “Journal of Investigative Dermatology” Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
8 citations
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May 2024 in “PLoS Biology” Gap junctions help control feather pattern formation in chickens.
Gingerol may help treat chronic graft-versus-host disease by improving immune cell balance.
6 citations
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November 2010 in “Histochemistry and cell biology” The proteins transthyretin and megalin are more present in the growth phase of hair, suggesting they might affect hair health and growth.
7 citations
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July 1975 in “Acta dermato-venereologica” A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
January 2024 in “JAAD case reports” MSUD patients need careful monitoring of amino acids and zinc to prevent severe symptoms.
6 citations
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January 2008 in “Indian Journal of Dermatology” Monilethrix, a genetic hair disorder causing fragile hair, affects three generations in a family.
4 citations
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January 2014 in “International Journal of Trichology” A 12-year-old boy with a rare genetic condition has progressive hair loss with no effective treatment.
23 citations
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March 2017 in “Journal of Investigative Dermatology” An artificial lipid barrier can restore hair growth in cases of SCD1 deficiency.
July 2025 in “Journal of Investigative Dermatology” Enhancing Tregs can protect against alopecia areata.
7 citations
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March 2023 in “Lasers in Surgery and Medicine” Ablative fractional laser treatment nearly matches the gene reduction effects of topical vismodegib in skin cancer.
36 citations
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October 2015 in “Cell reports” Gab1 protein is crucial for hair growth and stem cell renewal, and Mapk signaling helps maintain these processes.
67 citations
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April 1988 in “The Journal of Clinical Endocrinology & Metabolism” A subtle androgen receptor abnormality can allow normal male development and sometimes fertility despite partial androgen resistance.
March 2024 in “Residência Pediátrica” An infant developed excessive hair growth after a bone marrow transplant and cyclosporine treatment.
January 2024 in “Australasian journal of dermatology (Print)” A boy's hair turned red because of genetic mutations, not lack of zinc.
38 citations
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January 2016 in “Cell Death and Disease” The TCL1 transgenic mouse model is useful for understanding human B-cell leukemia and testing new treatments.
60 citations
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March 2006 in “Journal of Medical Genetics” A mutation in the KRTHB5 gene causes hair and nail issues.