March 2022 in “Folia Medica Indonesiana” The lump on a woman's scalp was a rare, potentially cancerous tumor from the hair follicle, not a common cyst.
April 2023 in “Research Square (Research Square)” A young woman had a rare, aggressive ovarian tumor that was hard to diagnose and treat, leading to disease progression despite treatment.
108 citations
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October 2005 in “Journal of Ultrasound in Medicine” Ultrasonography improves pilomatricoma diagnosis accuracy.
57 citations
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August 2002 in “American Journal Of Pathology” Cathepsin L deficiency causes hair and skin issues in mice.
January 2025 in “International Journal of Trichology” Loose anagen hair syndrome in children often resolves on its own.
February 2025 in “Veterinary Clinical Pathology” The ferret had a malignant apocrine gland tumor and did not survive surgery.
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.
January 2013 in “The Pan African medical journal” Monilethrix causes short, fragile hair with no specific treatment available.
September 2022 in “IP Indian journal of clinical and experimental dermatology” An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.
April 2020 in “International journal of research in dermatology” An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.
3 citations
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February 2001 in “British journal of ophthalmology” An Australian with rare hair loss and eye conditions had a gene linked to both, not seen together before.
July 2020 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature”
January 2025 in “JCEM Case Reports” Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
January 2005 in “Enlighten: Publications (The University of Glasgow)” Melanocyte pathology requires keratinocyte hyperplasia and regulation dysfunction.
August 2025 in “Journal of Pediatric Endocrinology and Metabolism” A rare ovarian tumor in a 2-year-old girl was successfully removed, normalizing her hormone levels.
17 citations
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January 1991 in “Acta Dermato Venereologica” A family had a genetic condition causing hair loss on the scalp, passed down through four generations.
October 2013 in “International Journal of Pediatric Endocrinology/International journal of pediatric endocrinology” A boy with early puberty and laughing seizures was treated, stopping seizures and slowing puberty.
15 citations
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April 2007 in “Journal of child neurology” An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.
3 citations
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December 2011 in “Pediatric Dermatology” The patient's long-term hair loss was caused by leukemia treatments and low estrogen levels, worsened by her genetic tendency for hair loss.
February 2024 in “Deleted Journal” The dog recovered well from skin cancer and intestinal blockage after treatment.
The document concludes that the development of certain tumors is influenced by genetic background and that a specific gene modification can lead to tumor regression and reduced growth.
1 citations
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May 2011 in “Journal of Obstetrics and Gynaecology” Hair loss in postmenopausal women due to ovarian hyperthecosis is rare, but removing the ovaries can significantly improve the condition.
5 citations
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January 2011 in “Archives de Pédiatrie” A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
26 citations
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June 2004 in “Clinical Genetics” The keratin 5 mutation in a family with epidermolysis bullosa simplex was due to mosaicism, not a new mutation.
1 citations
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February 2016 in “European Journal of Obstetrics & Gynecology and Reproductive Biology” An 84-year-old woman's hair loss was due to a rare condition called Leydig cell hyperplasia, which was treated with surgery.
27 citations
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November 2007 in “Genomics” Mutations in specific keratin genes cause improper hair structure in mice due to faulty keratin protein assembly.
18 citations
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January 2015 in “Experimental Dermatology” New mutations in KRT83 and KRT86 are linked to the hair disorder monilethrix.
3 citations
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December 2014 in “Annals of Laboratory Medicine” A Korean baby with nevus sebaceus syndrome was found to have a KRAS gene mutation.
April 2020 in “International journal of reproduction, contraception, obstetrics and gynecology” A postmenopausal woman with hair loss and hirsutism improved after surgery to remove an ovarian tumor.
April 2026 in “SHILAP Revista de lepidopterología” Early diagnosis and treatment of myositis in SLE patients lead to better outcomes.