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October 2023 in “Frontiers in Oncology” Genomic profiling for myeloid cancers can find important inherited mutations, but it's challenging when these mutations aren't related to the patient's symptoms.
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April 1989 in “Archives of Dermatology” Iron deficiency can cause hair color changes, which can be reversed with iron supplements.
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January 2003 in “Dermatology” Men with X-linked recessive ichthyosis often experience male-pattern baldness.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
2 citations
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October 2022 in “British journal of haematology” A girl with Evans' syndrome had her low platelet count successfully treated with zanubrutinib.
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March 2005 in “Endocrinology” Overexpression of the glucocorticoid receptor in mice causes developmental defects similar to ectodermal dysplasia.
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March 2011 in “Nature Communications” Cells from a skin condition can create new hair follicles and similar growths in mice, and a specific treatment can reduce these effects.
June 2025 in “Histopathology” Epithelial elements in superficial angiomyxomas are non-neoplastic growths mimicking embryogenesis.
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August 2019 in “American journal of human genetics” FOXN1 gene variants cause low T cells and immune issues from birth.
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July 2018 in “Dermatologic Surgery” Different tumor cells in one basal cell carcinoma can cause mixed treatment responses, suggesting personalized treatment is needed.
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November 2019 in “The FASEB Journal” A mutation in the MAP2 gene causes reduced hair follicle density, leading to hairlessness.
14 citations
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February 2018 in “Psychoneuroendocrinology” Mice lacking steroid 5α-reductase 2 show less aggression and better impulse control.
January 2018 in “Elsevier eBooks” 5α-reductase-2 deficiency causes ambiguous genitalia at birth and affects male sexual development, but individuals often develop male characteristics at puberty.
June 2023 in “Romanian Medical Journal” The case shows how hard it is to tell apart Multiple Autoimmune Syndrome from other similar autoimmune conditions, but correct diagnosis is key for treatment to work.
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January 2005 in “Pediatric Dermatology” UVA1-light therapy successfully treated a child's skin condition, mycosis fungoides.
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January 2000 in “Dermatology” Men with X-linked recessive ichthyosis can still experience male-pattern baldness.
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September 2013 in “PubMed” Methotrexate therapy for psoriasis may help regrow hair in some cases of male pattern baldness.
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” The mutant HR bmh protein mis-localizes in cells, affecting skin and hair development.
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May 2005 in “Fertility and Sterility” A specific gene variation is linked to a higher risk of polycystic ovary syndrome in Caucasian women.
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March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
December 2022 in “Biochemical and Biophysical Research Communications” HtrA2 activity is crucial for normal hair growth by regulating fat cell development.
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December 2017 in “Journal of zoo and wildlife medicine” Hormonal changes during the reproductive cycle may cause seasonal skin problems in captive female fossas.
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June 2016 in “The Cerebellum” 100 citations
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November 1997 in “Human Genetics” A new mutation in the hHb1 keratin gene is linked to the hair disorder monilethrix.
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February 2007 in “The Journal of Pathology” Somatic BHD mutations are rare in Japanese renal tumors.
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September 2024 in “Porto Biomedical Journal” Early and accurate diagnosis of primary vitreoretinal lymphoma is crucial to prevent serious complications.
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April 2025 in “Pediatric Dermatology” Macular alopecia is a distinct, non-scarring hair loss pattern that mostly affects young Hispanic/Latinx females and often resolves on its own.
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January 2017 in “Neuromuscular Disorders” A rare autoimmune condition, Satoyoshi syndrome, can start in adults and improve with immunosuppressive treatment.