January 2023 in “Pediatrics International” Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.
January 2025 in “BMJ Case Reports” Precocious puberty can signal familial adenomatous polyposis.
January 2019 in “日本皮膚科学会雑誌” 1 citations
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December 2012 in “Clinical and Experimental Dermatology” A rare calcium deposit condition was found on a man's scalp.
1 citations
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September 2023 in “Frontiers in Genetics” A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
August 2024 in “American Journal of Medical Genetics Part A” Variants in the CCDC47 gene are linked to trichohepatoneurodevelopmental syndrome.
9 citations
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February 2004 in “Clinical and Experimental Ophthalmology” The document discusses various eye conditions and their treatments, including a rare eye cancer in a baby, vision loss from a cancer drug, cataracts from a baldness treatment, a rare skin disorder, and a specific type of eye disease diagnosed with a special imaging technique.
5 citations
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June 1993 in “Pediatric dermatology” Monilethrix Syndrome causes fragile, beaded hair that breaks easily and needs early diagnosis for better care.
50 citations
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September 2009 in “Molecular Genetics and Metabolism” A new gene mutation causes vitamin D resistance and rickets, treatable with calcium therapy.
4 citations
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January 2010 in “Acta dermato-venereologica” Low androgen levels can still cause female pattern hair loss.
1 citations
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July 2007 in “Journal of Investigative Dermatology” The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
14 citations
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June 1989 in “Journal of dermatology” Three siblings had both Vohwinkel's disease and congenital alopecia, with no effective treatment.
November 2022 in “Journal of Investigative Dermatology” Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.
July 2011 in “British Journal of Dermatology” Hormone treatment caused hair loss, finasteride helped regrowth.
March 2021 in “Annals of King Edward Medical University” Clouston syndrome causes issues with teeth, hair, nails, and skin, and has no cure, but recognition has improved.
1 citations
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June 2022 in “Tidsskrift for Den norske legeforening” A young boy's uncombable hair is due to a rare genetic condition that usually improves over time.
October 2024 in “Journal of the Endocrine Society” Surgical removal of a rare ovarian tumor improved symptoms and hormone levels in a postmenopausal woman.
A patient with Myotonic dystrophy type 1 had multiple tongue hemangiomas and was sensitive to anesthesia.
115 citations
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October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
4 citations
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April 2002 in “Medical Hypotheses” Hormones cause hair loss by affecting cell growth and weakening cell attraction.
January 2015 in “Indian Journal of Medical Biochemistry” Men with early balding should be checked for metabolic syndrome, as there's a link between the two.
June 2011 in “European Journal of Pediatric Dermatology” An 11-year-old girl with hair thinning was diagnosed with monilethrix and early androgenetic alopecia.
14 citations
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January 1990 in “Fertility and Sterility” Some patients with high prolactin levels don't show symptoms because they have a form of the hormone that's less active.
46 citations
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August 2006 in “PubMed” A genetic defect causes males in some Mediterranean populations to be born with ambiguous genitalia and develop male traits at puberty.
January 2025 in “International Journal of Dermatology” Consider TFI in facial hypopigmentation diagnoses and confirm with a biopsy.
10 citations
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January 1995 in “Dermatology” Dermatologists should consider congenital syndromes like TRPS in young adults with early hair loss.
79 citations
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June 1991 in “Journal of Medical Genetics” X-linked mental retardation includes various syndromes with both mental and physical abnormalities.
May 2025 in “Clinical Medicine Insights Case Reports” Kindler Syndrome shows diverse symptoms and needs better diagnostic tools and care in resource-limited areas.
23 citations
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January 1985 in “Journal of Neuropathology & Experimental Neurology” Cupric chloride treatment corrected abnormal Purkinje cell development in brindled mice.
February 2012 in “Reactions Weekly” A woman got male pattern baldness from touching her husband's testosterone gel.