April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” MEF2C is crucial for normal hair cycle progression.
Acitretin improved monilethrix symptoms temporarily, but they returned after stopping treatment.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
35 citations
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August 2010 in “The American journal of pathology” Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
October 2023 in “Journal of the Endocrine Society” A woman's increased facial hair and hair loss were caused by a rare ovarian tumor, cured by surgery.
November 2022 in “Journal of Investigative Dermatology” Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.
44 citations
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November 2009 in “Archives of Dermatology” CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
2 citations
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September 2018 in “JAAD case reports” A rare type of skin cancer with mucosal involvement was partially treated but eventually relapsed.
2 citations
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January 2021 in “American Journal of Case Reports” A 13-year-old boy with a rare genetic condition survived a heart attack and improved with treatment.
64 citations
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May 1981 in “Clinical and Experimental Dermatology” A possible link exists between hair follicle abnormalities, hair loss, and muscle weakness.
1 citations
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January 2018 in “Jornal Brasileiro de Patologia e Medicina Laboratorial” Monilethrix causes brittle hair and hair loss, and it runs in families.
23 citations
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January 2011 in “International Journal of Immunopathology and Pharmacology” Minoxidil 2% effectively treats Monilethrix without side effects.
1 citations
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April 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” mTORC1 activity is important for hair growth and color, and targeting it could help treat hair loss and greying.
April 2018 in “Journal of Investigative Dermatology” The document concludes that ERBB2 mutations are common in extramammary Paget disease and may respond to systemic treatments like cancer immunotherapy.
150 citations
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June 1999 in “Oncogene”
October 2024 in “Journal of the Endocrine Society” Leydig cell tumors can cause high testosterone and symptoms in postmenopausal women, and removing them improves symptoms.
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April 2009 in “Pharmacotherapy” Minoxidil can cause deadly skin reaction; monitor patients closely.
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September 1987 in “The Lancet”
April 2015 in “Journal of Nutritional Therapeutics” Looser dietary restrictions can improve growth and reduce illness in methylmalonic acidemia patients.
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June 2025 in “Medeniyet Medical Journal” TMPRSS2 is crucial for COVID-19 infection and is a potential target for treatment.
January 2015 in “OpenBU/Boston University Institutional Repository (Boston University)” Neuropilin 2 may be a biomarker for melanoma and affects melanocyte behavior.
January 2020 in “Journal of oral medicine and oral surgery” Hair grew in a man's mouth due to a rare condition called heterotopia.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Folliculotropic mycosis fungoides has unique molecular features and cell interactions that could guide targeted therapy.
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April 2000 in “Archives of Pathology & Laboratory Medicine” 6 citations
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June 2006 in “International Journal of Gynecological Pathology” A postmenopausal woman's hormone imbalance and symptoms improved after removing benign ovarian tumors.
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
2 citations
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March 2023 in “JAAD case reports” Hair repigmentation can indicate malignancy and should be investigated.
2 citations
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January 1998 in “Neurourology and Urodynamics” AMN can cause bladder problems due to nerve damage.
21 citations
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January 2010 in “International journal of trichology” Trichoscopy can diagnose monilethrix, a genetic hair defect causing hair thinning and loss.
29 citations
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July 2014 in “PloS one” Meis1 is crucial for skin health and tumor development.