June 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” Anti-Ku-positive patients often have muscle weakness and autophagy plays a key role in their condition.
October 2024 in “Věda a perspektivy” Permanent makeup improves appearance and boosts confidence for people with cleft lip.
June 2023 in “Scholars journal of medical case reports” A black-skinned woman was diagnosed with Vogt-Koyanagi-Harada disease and treated with steroids and eye drops.
May 2022 in “Journal of Neurology Neurosurgery & Psychiatry” The woman's facial symptoms are best explained by primary Sjögren’s Syndrome.
February 2021 in “Pakistan Armed Forces Medical Journal” A rare skin condition usually found near the eyes was found on a farmer's scalp.
January 2021 in “Acta Scientiae Veterinariae” Levothyroxine effectively treated a dog's skin and hair problems caused by hypothyroidism.
October 2020 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Stem cell niche exit in C. elegans is influenced by Sh1 cell membrane protrusions.
October 2019 in “European Journal of Dermatology” The boy's hair and skin color differences are due to a pigmentation disorder.
July 1979 in “Archives of Dermatology” A 68-year-old woman with benign mucous membrane pemphigoid has eye, mouth, and skin issues, including thick plaques and nail changes.
April 2015 in “Reactions Weekly” Finasteride toxicity information is limited, poor quality, and biased.
January 2021 in “Springer eBooks” Different rheumatological diseases can cause specific skin problems.
7 citations
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November 2007 in “Annales de Dermatologie et de Vénéréologie” A man was diagnosed with a rare form of lupus after showing unique skin symptoms that responded well to treatment.
Some goats get rare skin diseases from not enough vitamin E, selenium, or zinc, but they're usually still healthy.
August 2012 in “Nature Cell Biology” The tumor suppressor BRCA2 helps in cell division by bringing key proteins to the area where cells split.
11 citations
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February 1989 in “Journal of veterinary medicine. Series A” Crossbreeding certain European cattle breeds may cause hair and physical issues in cattle.
13 citations
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June 2012 in “European journal of medical genetics” Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” Robertsonian translocation can cause recurrent miscarriages.
5 citations
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January 2017 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” Porokeratotic eccrine and hair follicle nevus is a very rare skin disorder possibly caused by a GJB2 gene mutation.
417 citations
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March 1991 in “American Journal of Psychiatry” Most adult chronic hair pullers are women who started in their early teens, often have other mental health issues, and may pull hair due to underlying psychiatric conditions.
80 citations
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April 2018 in “Trends in Molecular Medicine” Lichen Planopilaris and Frontal Fibrosing Alopecia may help us understand hair follicle stem cell disorders and suggest new treatments.
10 citations
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June 2000 in “Primary Care” The document explains different hair loss types and treatments, emphasizing diagnosis through examination and tests, and specific treatments for each condition.
28 citations
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June 1998 in “Clinical Genetics” Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
10 citations
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July 2022 in “BMC Biology” Sex-limited chromosomes can affect traits not related to reproduction.
Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
43 citations
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September 2001 in “Annals of Neurology” Hair root analysis can effectively detect somatic mosaicism in double cortex syndrome.
Deleting the MAD2L1 gene is tolerated in certain mouse cancer models.
April 2019 in “Journal of the Endocrine Society” Mosaic Klinefelter syndrome can affect male fertility and may be missed in routine tests.
3 citations
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November 2019 in “Journal of the ASEAN Federation of Endocrine Societies” A 20-year-old woman with a rare form of Turner syndrome showed improvement with hormonal therapy and needs comprehensive care.