May 2025 in “Frontiers in Genetics” A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
3 citations
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April 2010 in “The American Journal of Dermatopathology” Most people with scarring and nonscarring hair loss show similar D2-40 levels, but some with scarring hair loss have higher levels.
11 citations
,
January 2018 in “Jaypee's international journal of clinical pediatric dentistry” Papillon-Lefèvre Syndrome causes early tooth loss and skin issues, needing early dental diagnosis.
16 citations
,
October 2013 in “Anais Brasileiros de Dermatologia” Scalp condition healed with prednisone and tacrolimus.
2 citations
,
August 2020 in “JCRPE” A girl with Denys-Drash syndrome was misdiagnosed due to biotin affecting her hormone test results.
October 2025 in “Journal of the Endocrine Society” A rare ovarian tumor was found in a young woman with a genetic fat disorder.
2 citations
,
May 2021 in “Neuropathology & applied neurobiology/Neuropathology and applied neurobiology” Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
1 citations
,
September 2017 in “BMJ” The man has a disease causing skin patches, thickened nerves, and mild muscle weakness.
4 citations
,
January 2015 in “Türk Patoloji Dergisi” Hormone imbalances from endocrine diseases can cause various skin conditions that help diagnose and treat these diseases early.
14 citations
,
July 2021 in “Journal of the American Academy of Dermatology” Topical dapsone gel reduced flare-ups in folliculitis decalvans without side effects.
9 citations
,
January 1997 in “Endocrine Journal” Gonadal biopsy is the best method to diagnose gonadal dysgenesis.
38 citations
,
July 1998 in “Journal of surgical oncology” A woman with breast cancer developed a rare condition causing excessive fine hair growth on her face and body.
8 citations
,
July 2015 in “Molecular cytogenetics” A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
June 2026 in “Indian Journal of Dermatology Venereology and Leprology” Scalp discoid lupus erythematosus shows two distinct patterns in skin of color.
May 2024 in “British journal of dermatology/British journal of dermatology, Supplement” CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.
August 2016 in “Journal of the American Academy of Dermatology” The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
39 citations
,
January 2008 in “World Journal of Gastroenterology” Pegylated interferon-alpha 2a can cause a rare nerve disorder, but early treatment can lead to full recovery.
3 citations
,
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.
December 2023 in “Journal of the Endocrine Society” Blocking glucocorticoid receptors improves glucose metabolism in a PCOS mouse model.
1 citations
,
April 2013 in “Journal of Investigative Dermatology” 54 citations
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December 2011 in “American Journal Of Pathology” A Gsdma3 mutation causes hair loss due to stem cell damage from skin inflammation.
1 citations
,
March 2019 in “Journal of Interdisciplinary Medicine” A patient with multiple sclerosis developed skin reactions after Daclizumab treatment, requiring more data on the drug's effects.
July 2023 in “JCEM Case Reports” A 36-year-old woman with low potassium levels was found to have Cushing disease, and after treatment, her potassium levels normalized.
3 citations
,
January 1992 in “Clinical Pediatric Endocrinology” Patients with the same vitamin D receptor mutation showed different symptoms due to other factors.
8 citations
,
May 2020 in “Arthritis research & therapy” DHT inhibition may increase spinal bone growth in ankylosing spondylitis.
April 2016 in “Journal of the American Academy of Dermatology” A 4-year-old girl had a rare hair disorder affecting only part of her scalp.
6 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” The document concludes that careful diagnosis is crucial for chromosome 13q deletion syndrome, tamoxifen can cause reversible eye damage, finasteride may be linked to cataracts, and OCT is useful for diagnosing macular diseases.
6 citations
,
June 1993 in “Veterinary Dermatology” A female Rottweiler had a rare genetic condition causing mostly hairless skin.
5 citations
,
July 2023 in “International Journal of Women’s Dermatology” Anifrolumab significantly improved skin lesions and hair regrowth in severe discoid lupus.
June 2023 in “Romanian Medical Journal” The case shows how hard it is to tell apart Multiple Autoimmune Syndrome from other similar autoimmune conditions, but correct diagnosis is key for treatment to work.