5 citations
,
January 2017 in “Arquivos Brasileiros de Oftalmologia” A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
1 citations
,
April 2024 in “Journal of Cutaneous Pathology” Recurrent NICF is a rare skin condition with unclear causes, involving follicle inflammation and crystal deposits.
18 citations
,
December 1992 in “Journal of Cutaneous Pathology” Skin tumors and normal skin structures have different lectin-binding patterns.
2 citations
,
January 2007 in “Acta Dermato Venereologica” A patient developed a blister at the injection site after hepatitis C treatment.
1 citations
,
October 2022 in “Curēus” Diagnosing simple-virilizing congenital adrenal hyperplasia can be difficult and requires thorough testing and expert advice.
4 citations
,
December 2012 in “Arquivos Brasileiros De Endocrinologia E Metabologia” A postmenopausal woman's masculine symptoms improved after surgery for a hormone-producing ovarian tumor.
April 2019 in “Abstracts” Adding colchicine stopped the girl's recurring heart issues caused by lupus.
April 2019 in “Journal of the Endocrine Society” A woman with Cushing's syndrome improved after surgery to remove an adrenal tumor.
August 2024 in “Skin Research and Technology” TAF can be identified by excessive skin thickening and clogged hair follicles, helping distinguish it from similar skin conditions.
5 citations
,
April 2014 in “The American Journal of Dermatopathology” Foreign-body granuloma may be a marker for late-stage Lichen Planopilaris and should be considered in diagnosis.
17 citations
,
August 1983 in “Australasian Journal of Dermatology” The review says skin conditions with sterile pustules need more research for better treatments.
5 citations
,
February 2015 in “New England journal of medicine/The New England journal of medicine” The conclusion of the case is not provided in the summary.
97 citations
,
February 2007 in “Clinical Obstetrics and Gynecology” The definition of Polycystic Ovary Syndrome may change with new research, and careful screening is key for managing the condition.
October 2023 in “F1000Research” TB lymphadenitis can occur in people with SLE on long-term immunosuppressive therapy.
1 citations
,
May 2023 in “Frontiers in endocrinology” A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
10 citations
,
June 2019 in “Case reports in dermatology” LALPS causes non-scarring hair loss along the Blaschko line, with unique trichoscopic findings.
10 citations
,
March 2016 in “The Journal of Obstetrics and Gynecology of India” The article suggests renaming Polycystic Ovarian Syndrome (PCOS) to "Hyperandrogenic Persistent Ovulatory Dysfunction Syndrome" (HA-PODS) for accuracy and consistency, but no final decision was made.
April 2025 in “Suez Canal University Medical Journal” Valproic acid can rarely cause fluid buildup around the lungs and heart.
8 citations
,
September 2023 in “Skin Research and Technology” High-frequency ultrasound improves diagnosis accuracy for most subcutaneous lesions.
November 2022 in “International Journal of General Medicine” Women with Polycystic Ovary Syndrome are more likely to have Non-Alcoholic Fatty Pancreas Disease, which is associated with older age, metabolic syndrome, insulin resistance, and high male hormone levels.
148 citations
,
May 2012 in “The American Journal of Human Genetics” Cantú syndrome is caused by mutations in the ABCC9 gene.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A patient with a PLEC mutation has epidermolysis bullosa, muscular dystrophy, and myasthenia gravis, which improved with steroid treatment.
January 2024 in “JCEM case reports” This is the first known case of parathyroid cancer in a patient with Birt Hogg Dube Syndrome.
69 citations
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May 2002 in “Journal of Investigative Dermatology” Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
6 citations
,
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
August 2018 in “Journal of The American Academy of Dermatology” A 5-year-old girl with a rare skin disorder was effectively treated with skin creams instead of oral medication.
1 citations
,
February 2022 in “Online journal of biological sciences” The document does not determine if adults with aphallia are fertile.
Ultrasound alone isn't enough to diagnose PCOS.
October 2010 in “International Journal of Dermatology” An 86-year-old man with prostate cancer was diagnosed with a rare, low-grade breast cancer and underwent surgery but declined additional hormone therapy.
254 citations
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December 2003 in “Journal of the American Academy of Dermatology” Accurate diagnosis and aggressive treatment are crucial to prevent permanent hair loss in cicatricial alopecia.