24 citations
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January 1969 in “Archives of Dermatological Research” Hair malformations may occur due to timing issues in hair development.
February 2024 in “Journal of the American Academy of Dermatology” Vascular patterns in dermoscopy help tell apart malignant and benign skin tumors.
2 citations
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October 2023 in “The American journal of case reports” A man developed a benign tumor at his COVID-19 vaccination site, which was successfully removed with surgery.
1 citations
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March 2025 in “Journal of Investigative Dermatology” Metabolic issues may trigger lymphocytic cicatricial alopecia, and treatments targeting these issues could help.
1 citations
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May 2025 in “The Journal of Rheumatology” A fungus ball in the lung can cause coughing up blood in SLE patients.
November 2025 in “Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin” Sporadic trichoblastic neoplasms generally don't recur or spread, with one case showing a specific genetic fusion.
May 2021 in “Our Dermatology Online” A woman with a rare scalp condition causing a thick scalp and hair loss didn't improve with steroid treatment.
February 2025 in “Journal of Paediatrics and Child Health” Genetic analysis is crucial for diagnosing ectodermal dysplasia syndromes, and new therapies may help improve skin issues.
9 citations
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March 2015 in “International reviews of immunology” Skin abnormalities can indicate immunodeficiency due to shared origins with the immune system.
October 2025 in “Journal of the Endocrine Society” Combining medication and minimally invasive techniques can effectively manage Marine-Lenhart syndrome.
May 2025 in “Journal of the ASEAN Federation of Endocrine Societies” VHL disease can cause early paragangliomas, needing lifelong monitoring.
May 2020 in “International journal of dermatology and venereology” Hair matrix cysts are rare skin nodules with unique features, often needing surgical removal.
June 2015 in “Sonography” Ultrasound is effective for diagnosing scrotal cysts, and prompt treatment is crucial to prevent severe complications.
3 citations
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May 2023 in “Pediatric Dermatology” A 9-year-old boy had a rare scalp condition usually seen in young men.
August 2022 in “Biomedicines” Turning off the Lhx2 gene in mouse embryos leads to slower wound healing and scars.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
January 2020 in “Advanced ultrasound in diagnosis and therapy” Epidermoid cysts can be better diagnosed with ultrasound by recognizing specific features and using clinical information.
11 citations
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December 2013 in “Clinical and experimental dermatology” A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
115 citations
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October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
A patient with patchy hair loss was successfully treated for Tumid Lupus Erythematosus after other treatments failed.
January 2025 in “Repository of Digital Objects for Teaching Research and Culture (University of Valencia)” Non-coding RNAs may be key in diagnosing and treating rare skin disorders.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
23 citations
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February 2020 in “PLOS genetics” Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
2 citations
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December 2008 in “Clinical and Experimental Dermatology” A small forehead lesion led to the discovery of a significant brain arteriovenous malformation in a young girl.
5 citations
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August 2000 in “Archives of Pathology & Laboratory Medicine” The nodule on the woman's back was a benign hair follicle tumor, not cancer, but needed removal.
44 citations
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January 1999 in “Dermatology” Nevus comedonicus is a rare skin condition with grouped open pores, sometimes linked to other body issues.
October 2022 in “The American journal of gastroenterology” Thymoma-associated multiorgan autoimmunity can cause liver damage and affects multiple organs, with limited treatment options and a generally poor prognosis.
7 citations
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January 2013 in “Ophthalmic plastic and reconstructive surgery” A 79-year-old man was diagnosed with a rare skin condition called nevus comedonicus on his eyelids.
January 2026 in “Zenodo (CERN European Organization for Nuclear Research)” The thyroid nodule was benign, and surgery was successful with a smooth recovery.
September 2022 in “Frontiers in genetics” A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.