April 2024 in “Rheumatology” A young woman with visual issues and other symptoms was diagnosed with lupus and antiphospholipid syndrome, and improved with treatment.
September 2023 in “Journal of the American Academy of Dermatology”
March 2024 in “Poster presentations” A woman with lupus and Kikuchi-Fujimoto disease improved with treatment.
January 2025 in “Journal of Clinical Case Studies” Undiagnosed Marfan syndrome can lead to serious health issues, so genetic counseling and avoiding heavy lifting are crucial.
5 citations
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February 2003 in “American Journal of Medical Genetics Part A” A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
August 2025 in “BMC Pregnancy and Childbirth” A new EDA gene variant causes X-linked hypohidrotic ectodermal dysplasia in a Chinese family.
2 citations
,
July 2019 in “Indian dermatology online journal” A 17-year-old girl and her brothers have a rare hair condition with long eyelashes, thick eyebrows, and easily pluckable hair.
March 2016 in “Reactions Weekly” Post-finasteride syndrome causes various symptoms in men using finasteride, with no known cure.
6 citations
,
January 2013 Hyperadrenocorticism in ferrets is linked to neutering and indoor housing, and is best treated with surgery and a deslorelin implant.
8 citations
,
October 2014 in “The Journal of Dermatology” Patients with alopecia areata should be checked for muscle spasms, diarrhea, and ANA to avoid missing Satoyoshi syndrome.
August 2004 in “Journal of the American College of Surgeons” Several genes, including Hox-7A, Stra6, and Lim-1, are involved in normal palate formation.
7 citations
,
April 2007 in “PubMed” Finasteride, a hair loss drug, caused a skin rash that went away when the drug was stopped and returned when used again.
7 citations
,
June 2018 in “Archives of Rheumatology” A woman with lupus developed rare skin growths that went away on their own.
May 2022 in “Journal of Neurology Neurosurgery & Psychiatry” The woman's facial symptoms are best explained by primary Sjögren’s Syndrome.
78 citations
,
January 2013 in “Dermatology Online Journal” Hidradenitis suppurativa is linked to various diseases like obesity, depression, arthritis, and Crohn's disease, but often occurs alone.
October 2024 in “Journal of the Endocrine Society” Post-finasteride syndrome can cause lasting sexual, physical, and mental health issues with limited treatment options.
12 citations
,
November 1987 in “Pediatric dermatology” Four children had unmanageable pale blond hair due to uncombable-hair syndrome.
75 citations
,
September 1985 in “Archives of dermatology” Two boys had a rare skin condition needing to be differentiated from similar disorders, with unclear inheritance due to few cases.
91 citations
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May 2005 in “The Journal of Clinical Endocrinology & Metabolism” A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
October 2021 in “Scholarworks (University of Massachusetts Amherst)” FERONIA is crucial for plant growth, pollen tube reception, and sugar signaling.
February 2025 in “Journal of Investigative Dermatology” The ZIP13 variant is linked to abnormal hair quality.
1 citations
,
September 2011 in “Journal of the American Geriatrics Society” A potential genetic link between Werner syndrome and kidney disease was suggested.
24 citations
,
January 2011 in “Sexual Development” Intersex frogs have different brain gene activity related to sex and thyroid hormones.
October 1984 in “Immunology Today”
19 citations
,
April 1995 in “Clinical Genetics” Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
4 citations
,
July 2017 in “Journal of Medical Case Reports” The 2012 criteria are better for diagnosing atypical lupus cases.
5 citations
,
May 2022 in “Diagnostics” Certain genetic markers can indicate higher or lower risk for systemic lupus erythematosus.
September 2024 in “BMJ Case Reports” An adult had a rare scalp infection in the forehead area, treated successfully with itraconazole.
March 2018 in “The journal of applied laboratory medicine” The rash on the infant indicated a serious underlying condition.
November 2025 in “Journal of Skin and Sexually Transmitted Diseases” Trichofolliculoma was found in a person with amniotic band syndrome for the first time.