20 citations
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January 1995 in “Cells tissues organs” Changing light periods synchronized wool growth cycles in sheep.
7 citations
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February 2006 in “Clinical and Experimental Dermatology” Using anabolic steroids 'Sus' and 'Deca' for bodybuilding caused severe acne in a man.
June 2026 in “British Journal of Dermatology” A rare genetic mutation in the EGFR gene caused severe skin issues and other health problems in a Slovakian girl, who is now 4 years old and receiving care.
January 2024 in “Genetics in Medicine Open” Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
January 1999 in “American Journal of Medical Genetics Part A” The report expanded knowledge of MBTPS1-related disorders by identifying new symptoms.
4 citations
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April 2019 in “JAAD Case Reports” DPR can cause skin, hair, and nail issues, sometimes appearing later in life.
2 citations
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December 2020 in “Endocrinology, diabetes & metabolism case reports” A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
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.
308 citations
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December 2018 in “PLOS Genetics” The research found that PCOS has common genetic factors regardless of how it is diagnosed and is linked to metabolic and reproductive issues.
2 citations
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July 2012 in “PubMed” Ceramide-rich liposomes can effectively repair and strengthen damaged hair.
November 2023 in “Manuju” Treating hyperprolactinemia can help manage PCOS symptoms.
April 2020 in “Journal of the Endocrine Society” A 14-year-old girl with no menstrual period was diagnosed with Swyer Syndrome and treated for a related cancer risk.
1 citations
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November 2023 in “Cureus” Early diagnosis of Bloch-Sulzberger Syndrome is crucial to prevent severe complications.
31 citations
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January 2014 in “Journal of endocrinological investigation” Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
14 citations
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July 2009 in “European Journal of Gastroenterology & Hepatology” Rapunzel syndrome is more common in Asian countries and requires early diagnosis, especially in Asian girls.
January 2013 in “International Journal of Trichology” A new mutation in the TRPS1 gene was found in a Ukrainian girl with Trichorhinophalangeal syndrome type I.
A rare skin condition in a 17-year-old was diagnosed late, stressing the need for careful evaluation and genetic testing.
October 2023 in “Indian dermatology online journal” The young woman has a benign, hereditary skin condition with no signs of a more serious syndrome.
2 citations
,
February 2021 in “Endocrinology, diabetes & metabolism case reports” A teenage girl had both a rare ovarian tumor and a severe form of polycystic ovarian syndrome.
January 2012 in “Modern Plastic Surgery” Toe Tourniquet Syndrome is often misdiagnosed.
December 1987 in “Pediatric Dermatology” Hair bands are a new symptom of facio-genito-popliteal syndrome.
July 2021 in “British Journal of Dermatology” The boy's genetic diagnosis of ectodermal dysplasia helped improve management and counseling for him and his sister.
5 citations
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January 2012 in “Indian Journal of Dermatology Venereology and Leprology” Werner's syndrome causes early aging and increases cancer risk, requiring early diagnosis and symptom management.
September 2024 in “Clinical Case Reports” Early recognition and multidisciplinary management of Whitaker syndrome can improve patient outcomes.
12 citations
,
September 2020 in “JAMA Dermatology” PRP patients show varied symptoms and need more research to understand related conditions.
January 1962 in “Archives of Dermatology” A 5-year-old girl has lipoid proteinosis, causing voice issues, hair thinning, skin lesions, and tongue movement problems.
4 citations
,
August 2018 in “Journal of pediatric neurology” Becker's Nevus Syndrome is a rare condition with a skin patch and possible bone and muscle abnormalities, treated mainly for appearance.
January 2018 in “Indian Dermatology Online Journal” A child with Olmsted syndrome showed mild improvement in hair and skin issues with treatment.
5 citations
,
December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
5 citations
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May 2011 in “European Journal of Medical Genetics” A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.