1 citations
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May 2023 in “Journal of neuroendocrinology” DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
July 2021 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” Monilethrix causes different levels of hair loss in family members.
18 citations
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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.
7 citations
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January 2013 in “Ophthalmic plastic and reconstructive surgery” A 79-year-old man was diagnosed with a rare skin condition called nevus comedonicus on his eyelids.
30 citations
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July 2004 in “Fertility and Sterility” Amenorrhea is when a woman doesn't have periods, with primary amenorrhea starting by age 15 or within five years of breast development, and secondary amenorrhea when periods stop for three months. It affects 3-4% of women not pregnant, breastfeeding, or in menopause, mainly due to polycystic ovary syndrome, hypothalamic amenorrhea, hyperprolactinemia, and ovarian failure.
4 citations
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September 2013 in “Expert Review of Endocrinology & Metabolism” Different types of polycystic ovary syndrome show varying levels of insulin resistance, with the 'PHO' type being the most insulin resistant.
17 citations
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September 2010 in “Pediatric dermatology” A 15-year-old with KID syndrome developed a rare skin condition called PEHFN.
15 citations
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June 2012 in “British Journal of Dermatology” A new mutation in the KRT86 gene causes a hair disorder with variable expression.
January 2022 in “International Journal of Clinical Oncology and Cancer Research” Consider Castleman's disease in similar cases; histology and steroids help diagnose and manage it.
4 citations
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December 2013 in “The Journal of Dermatology” A new mutation in the K6b gene caused a girl's late-appearing nail condition.
2 citations
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October 2018 in “The journal of pediatrics/The Journal of pediatrics” The document concludes that specific hair and blood vessel abnormalities in infants with seizures and developmental issues may indicate Menkes disease, which lacks a cure and is often fatal by age 3.
January 2019 in “Przegląd Dermatologiczny” An 87-year-old woman was diagnosed with type 3 autoimmune polyendocrine syndrome and had multiple autoimmune issues.
2 citations
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January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
15 citations
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April 2019 in “Best Practice & Research Clinical Endocrinology & Metabolism” Polycystic Ovary Syndrome (PCOS) in teenagers is a complex condition linked to genetics and environment, often associated with obesity and insulin resistance, and is treated with lifestyle changes and medication.
2 citations
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January 1998 in “Neurourology and Urodynamics” AMN can cause bladder problems due to nerve damage.
The document concludes that Loose Anagen Hair Syndrome is a benign condition where hair is thin and easily pulled out, often improving with age.
3 citations
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May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
April 2019 in “Journal of the Endocrine Society” A young patient with unusual insulin resistance and high testosterone levels had a rare INSR gene mutation.
85 citations
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June 2008 in “Annals of the New York Academy of Sciences” PCOS starts in adolescence with hormonal issues, leading to adult health problems, and early treatment is crucial.
14 citations
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December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
55 citations
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October 1992 in “Archives of Dermatology” Loose Anagen Hair Syndrome is a hereditary condition causing hair loss in children due to abnormal hair follicles.
6 citations
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January 2013 in “Case reports in endocrinology” The document concludes that AFA should be considered in patients with acromegaly-like features but normal hormone levels, and more cases need to be identified to understand the condition fully.
February 2010 in “Journal of the American Academy of Dermatology” Umbilical cord blood transplantation improved the boy's symptoms despite complications.
2 citations
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September 2021 in “Universal Journal of Pharmaceutical Research” PCOS is linked to hormone disorders and issues like infertility and irregular periods.
38 citations
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June 2005 in “International Journal of Dermatology” A man with nevus comedonicus syndrome had multiple skin issues, including basal cell carcinomas, which improved with treatment.
63 citations
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January 1999 in “The Journal of Clinical Endocrinology & Metabolism” Polycystic ovaries and early male baldness are inherited traits.
December 2022 in “Cumhuriyet medical journal” Different PCOS subgroups have similar metabolic features, but those without menstrual problems have milder issues.
5 citations
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January 2017 in “Arquivos Brasileiros de Oftalmologia” A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.
4 citations
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January 2020 in “Dermatology Online Journal” Congenital atrichia with papular lesions causes permanent hair loss and skin bumps due to a gene mutation.
41 citations
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December 2008 in “Pediatric Dermatology” Trichoscopy can diagnose Netherton syndrome without pulling hairs.