53 citations
,
September 2014 in “Reproductive Biology and Endocrinology” Different types of PCOS have different levels of metabolic problems, with the most severe type showing the highest disturbances.
31 citations
,
May 2021 in “Journal of endocrinological investigation” APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
18 citations
,
December 2006 in “Clinical dysmorphology” A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
1 citations
,
December 2018 in “Journal of genetic medicine” A small change in the TRPS1 gene leads to a less severe form of a syndrome affecting hair, nose, and finger development.
8 citations
,
November 2009 in “The Neurologist/The neurologist” If someone has scaly skin, muscle stiffness, and intellectual disability, doctors should consider Sjogren-Larsson Syndrome, but other conditions if more symptoms are present.
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.
September 2025 in “Anti-Aging Eastern Europe” PCOS requires comprehensive, lifelong care addressing both visible and hidden health issues.
October 2023 in “Journal of the Endocrine Society” A woman was diagnosed with Sheehan's syndrome and a rare complication of diabetes insipidus 33 years after symptoms began, improving with hormone therapy.
26 citations
,
September 1969 in “The American journal of medicine” Cronkhite-Canada Syndrome often leads to death within 6-18 months.
6 citations
,
May 2012 in “Pediatric Dermatology” Satoyoshi syndrome can cause hair loss and other serious health issues, and is hard to diagnose.
February 2024 in “International Journal of Dermatology” Cryptococcoid Sweet syndrome can be linked to hydralazine use and multiple autoantibodies, requiring high clinical suspicion and more research.
10 citations
,
November 2016 in “Clinical and experimental dermatology” PAS III can cause multiple autoimmune diseases with noticeable skin issues.
6 citations
,
January 2018 in “Annals of dermatology/Annals of Dermatology” Hyaluronic acid filler can safely and effectively improve facial contour in Parry-Romberg Syndrome.
September 2024 in “International Journal of Contemporary Pediatrics” A multidisciplinary approach is crucial for treating complex cases of Rapunzel syndrome in children.
June 2006 in “British Journal of Dermatology” The document reports unique growth lines in a child after Stevens-Johnson syndrome, skin reaction from parsnips and sun in a girl, and itchy skin with xanthomas in a boy with Alagille syndrome.
October 2023 in “Journal of dermatological science” New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
May 2024 in “International journal of medicine and psychology.” Ganser syndrome may result from both organic and psychogenic factors.
26 citations
,
September 2009 in “Psychosomatics” A girl initially thought to have a psychiatric disorder was later found to have a lupus-related condition, which improved with proper treatment.
18 citations
,
July 2019 in “Clinical Endocrinology” Women with PCOS in Sicily show different levels of metabolic problems depending on their PCOS type, with obesity and abnormal lipid profiles being common.
6 citations
,
February 2023 in “Lara D. Veeken” Satoyoshi syndrome is likely an autoimmune disease.
37 citations
,
January 2003 in “Journal of the European Academy of Dermatology and Venereology” Turner's syndrome may be linked to autoimmune diseases like psoriasis and alopecia areata, needing comprehensive care.
September 2012 in “Annals of saudi medicine/Annals of Saudi medicine” The twins' condition is unique and doesn't match any known syndromes.
7 citations
,
January 2024 in “Medicinska istrazivanja” PCOS causes hormonal imbalances, irregular periods, and can lead to infertility, obesity, and mental health issues.
25 citations
,
September 2005 in “Journal of the American Academy of Dermatology” Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
7 citations
,
January 2008 in “Indian Journal of Dermatology” Pigmentary mosaicism causes skin color changes and can affect multiple body systems, but has no cure.
January 2009 in “Epsilon: Revista de la Sociedad Andaluza de Educación Matemática "Thales"” A CCS patient with severe complications was successfully treated using combined therapies.
9 citations
,
January 2007 in “Gynecological Endocrinology” A woman was the first known case to have both polycystic ovary syndrome and autoimmune polyglandular syndrome type 2, suggesting a need to check for both conditions in similar patients.
1 citations
,
January 2017 in “Indian Journal of Pharmaceutical Sciences” Women with PCOS often have different clinical signs, hormone levels, and gynecological issues compared to those without the condition.
5 citations
,
November 2015 in “International Journal of Dermatology”
January 2017 in “IMC Journal of Medical Science” A rare endocrine disorder, APS 1, was diagnosed in a 26-year-old man in Bangladesh.