October 2025 in “Dermatology Practical & Conceptual” Ultraviolet techniques help identify Grover’s Disease, which may be underdiagnosed in young people and females.
6 citations
,
January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Three siblings with a genetic form of rickets showed different symptoms of the disease.
8 citations
,
August 2017 in “Skin appendage disorders” Red dots on the upper chest may be an early sign of certain types of hair loss.
71 citations
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January 2011 in “Journal of cutaneous pathology” A rare skin condition was confirmed to be associated with a specific virus in a young girl.
July 2012 in “American Journal of Clinical Pathology” Hair examination is crucial for diagnosing Netherton syndrome in patients with certain skin symptoms.
1 citations
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January 2018 in “Medical Science and Discovery” The document's conclusion cannot be provided as the content is not available for parsing.
April 2020 in “Journal of the Endocrine Society” The patient with a misplaced pituitary gland and interrupted pituitary stalk is being treated with hormone replacement.
22 citations
,
September 1993 in “Archives of Dermatology” The child has a scaly rash and fever, but tests show no infection.
September 2025 in “Indian Journal of Dermatology” A Turkish woman has a hair condition caused by a LIPH gene mutation.
20 citations
,
February 1991 in “Archives of dermatology” High doses of tryptophan may cause eosinophilic fasciitis.
2 citations
,
July 2021 in “Genes” A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
1 citations
,
January 2022 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” Reflectance confocal microscopy may help diagnose trichofolliculoma by showing specific skin features.
69 citations
,
May 2002 in “Journal of Investigative Dermatology” Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
20 citations
,
March 1975 in “Journal of steroid biochemistry/Journal of Steroid Biochemistry” The study concludes that a genetic mutation in TFM mice leads to reduced androgen receptor activity, affecting the body's response to male hormones.
1 citations
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August 2015 in “AACE Clinical Case Reports” A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.
32 citations
,
January 2017 in “Orphanet journal of rare diseases” FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
1 citations
,
January 2009 in “Kidney International” The woman was diagnosed with systemic lupus erythematosus (SLE) after initial misdiagnosis and improved with proper treatment.
1 citations
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August 2021 in “Movement disorders clinical practice” A man with Isaac's syndrome affecting only one side of his body improved after immune system-targeted treatment.
August 2013 in “Gastroenterology” A 60-year-old man with Cronkhite-Canada syndrome improved with treatment, but the condition has a high mortality rate and a risk of colorectal cancer.
15 citations
,
April 2016 in “Medicine” SLE patients with Evans syndrome often show blood issues and need careful monitoring and treatment.
January 2024 in “Skin Appendage Disorders” 1 citations
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September 2025 in “Frontiers in Immunology” Folate receptor β helps suppress the immune system in macrophages and affects cancer growth and hair health.
2 citations
,
March 2016 in “The Journal of Urology” Finasteride 1mg linked to diverse symptoms; other treatments improve erectile function in rats.
3 citations
,
September 2015 in “Journal of Vascular Surgery” Chemical lumbar sympathectomy is an effective and safe treatment for idiopathic livedo reticularis.
1 citations
,
February 2017 in “The American journal of dermatopathology/American journal of dermatopathology” A man with a skin nodule was diagnosed with a rare skin condition called cutaneous focal mucinosis, which can be confused with other skin cancers.
33 citations
,
May 2015 in “JAMA Dermatology” Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.
October 2020 in “Journal of the American Society of Nephrology” Drospirenone can hide symptoms of certain hormonal disorders, complicating diagnosis.
September 2011 in “Chinese Journal of Dermatology” A man's skin condition was misdiagnosed and later identified as a rare type of skin cancer, which did not improve with treatment.
15 citations
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April 1970 in “PubMed” Netherton's syndrome may have a familial link and doesn't always include atopy.
December 2023 in “University of Southern Denmark Research Portal (University of Southern Denmark)” Digital access to medical info can help identify rare conditions.