November 2022 in “Journal of Investigative Dermatology” Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.
August 2025 in “American Journal of Case Reports” Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
3 citations
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November 2015 in “International Journal of Dermatology” Trichostasis spinulosa is common but often underdiagnosed, mainly affecting women's faces.
17 citations
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October 2001 in “British Journal of Ophthalmology” Intralesional cidofovir might be a good alternative treatment.
October 2024 in “Journal of the Endocrine Society” Managing recurrent painless thyroiditis is challenging and should be personalized based on episode frequency, severity, symptoms, and patient preferences.
6 citations
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January 2022 in “BMC Medical Genomics” Different gene mutations cause different types of ichthyosis, with some new mutations found.
145 citations
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March 2010 in “Fertility and Sterility” Different types of polycystic ovary syndrome (PCOS) have varying severity, with Type I being the most severe and common.
March 2025 in “The Scientific Issues of Ternopil Volodymyr Hnatiuk National Pedagogical University Series pedagogy” Primary mitochondrial cytopathies often cause skin, endocrine, vision, and blood issues, needing careful diagnosis.
April 2019 in “Journal of the Endocrine Society” A young patient with unusual insulin resistance and high testosterone levels had a rare INSR gene mutation.
4 citations
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May 2022 in “Journal of Nepal Medical Association” Steroids, infection management, and nutritional support can significantly improve symptoms of Cronkhite-Canada Syndrome.
5 citations
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August 2021 in “Experimental dermatology” Overexpressing Merkel cell virus proteins in human hair follicles can create clusters of cells that resemble Merkel cell cancer.
5 citations
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January 2024 in “Science Advances” Touch dome keratinocytes in adult skin have traits of different skin cell types.
July 2024 in “JAAD Case Reports” Corticosteroid injections for hair loss may cause eye problems, so caution is needed.
June 2024 in “British Journal of Dermatology” A 15-year-old boy was correctly diagnosed with a rare skin condition after initially being misdiagnosed.
1 citations
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November 2004 in “Hair transplant forum international” Hair restoration surgeons must understand the differences between CTE and FPHL for accurate diagnosis and treatment.
8 citations
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November 1990 in “Archives of Dermatology” A woman with EMS showed unusual skin mucinosis without the typical hard skin syndrome, suggesting EMS can cause skin mucinosis.
1 citations
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January 2024 in “BMJ Case Reports” A woman had meningitis caused by mixed connective tissue disease, not an infection.
April 2023 in “The journal of investigative dermatology/Journal of investigative dermatology” Lack of TG2 increases fat storage and lowers cell cleanup in skin oil cells.
2 citations
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May 2007 in “Pediatrics in Review” Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
September 1997 in “Journal of The European Academy of Dermatology and Venereology” Skin lymphoproliferative disorders are hard to diagnose and often linked to systemic diseases, but most have a good prognosis with accurate diagnosis.
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.
3 citations
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January 2017 in “Journal of clinical and diagnostic research” Injecting steroids like Triamcinolone Acetonide for skin treatments can cause Cushing's Syndrome.
27 citations
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October 2017 in “British Journal of Dermatology” Patients with GATA2 deficiency show early skin symptoms that help diagnose the condition.
November 2022 in “Journal of the Endocrine Society” The patient likely has Chrousos syndrome, a rare condition causing insensitivity to glucocorticoids, requiring high-dose dexamethasone treatment.
7 citations
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December 2021 in “Curēus” Breast cancer skin metastases are rare, look different, and can be confused with other skin issues, so a biopsy is needed for accurate diagnosis.
May 2026 in “Frontiers in Medicine” The patient's hair improved after treatment, but the genetic link is unclear.
September 2021 in “CRC Press eBooks” CCCA is a common hair loss condition in African American women, often inherited and influenced by hairstyling, with unique scalp features detectable by special tools.
19 citations
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February 2016 in “Journal of The American Academy of Dermatology” CD3+ T-cell presence is a reliable marker to tell apart alopecia areata from pattern hair loss.
January 2025 in “Journal of Case Reports and Scientific Images” Early diagnosis and treatment are crucial for managing Folliculotropic Mycosis Fungoides on the scalp.
December 2019 in “theses.fr (ABES)” Lower TGFß1 levels help stem cells become beige fat cells.