16 citations
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June 1992 in “PubMed” Steroid pulse therapy improved symptoms in a man with Satoyoshi syndrome.
34 citations
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April 1982 in “BMJ”
February 2021 in “Endocrinology, diabetes & metabolism case reports” A postmenopausal woman's excessive hair growth and hair loss were due to a non-cancerous ovarian condition, treated successfully with surgery.
September 2024 in “Clinical Case Reports” Early recognition and multidisciplinary management of Whitaker syndrome can improve patient outcomes.
The case shows the difficulty in diagnosing certain conditions when standard tests are negative.
14 citations
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May 1979 in “International Journal of Dermatology” Trichostasis spinulosa mainly affects the nose, with many tiny hairs in one follicle, possibly influenced by hormones and sunlight.
8 citations
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January 2009 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” A specific thyroid hormone resistance mutation may be linked to different types of hair loss.
October 2019 in “European Journal of Dermatology” The boy's hair and skin color differences are due to a pigmentation disorder.
80 citations
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June 1997 in “The American Journal of Human Genetics”
8 citations
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January 2015 in “International journal of trichology” A woman's total hair loss was linked to a Borrelia infection and was reversed with appropriate treatment.
January 2020 in “Revista da Sociedade Portuguesa de Dermatologia e Venereologia” Frontal fibrosing alopecia in Brazil mostly affects postmenopausal women, often linked with hypothyroidism and eyebrow hair loss.
10 citations
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January 1992 in “Screening” Newborn screening for biotinidase deficiency is effective in preventing severe complications.
55 citations
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May 1970 in “New England Journal of Medicine” Scurvy may cause symptoms similar to Sjögren's syndrome, which disappear with vitamin C.
May 2021 in “Journal of the Endocrine Society” A woman's severe hormone imbalance after menopause led to finding a rare ovarian tumor, treated by surgery.
30 citations
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January 2013 in “Human Mutation” A mutation in the HOXC13 gene causes hair and nail problems in a Syrian family.
April 2024 in “JCEM case reports” A woman's rare benign tumor that released both cortisol and testosterone was successfully removed, improving her health.
PCOS may be linked to spina bifida in young females.
21 citations
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April 2004 in “Australasian Journal of Dermatology” A 3-year-old girl has a rare condition causing sparse hair and nail issues, with minimal improvement from treatment.
5 citations
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March 2010 in “International Journal of Dermatology” Accurate diagnosis of basaloid follicular hamartoma is crucial to avoid unnecessary treatments.
4 citations
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December 2021 in “Journal of clinical laboratory analysis” A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
5 citations
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September 2015 in “BMC Medical Genetics” The EDAR gene mutation leads to thinner and more deformed hair shafts.
January 2008 in “대한피부과학회지” Androgenetic alopecia is more common in men, linked to genetics and androgen levels, but routine pelvic ultrasound isn't recommended.
3 citations
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January 2019 in “Journal of Dermatology” The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
3 citations
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January 2013 in “Türk veterinerlik ve hayvancılık dergisi/Turkish journal of veterinary and animal sciences” A cat in Turkey had Ehlers-Danlos syndrome, showing very stretchy skin and easy bruising.
December 2023 in “JEADV Clinical Practice” A woman's hair grew back with baricitinib treatment, but she developed a temporary hairy tongue that was treated with regular tongue brushing.
A KRT32 gene variant causes loose anagen hair syndrome.
January 2025 in “Journal of College of Physicians And Surgeons Pakistan” Minimally invasive glaucoma surgery can effectively manage glaucoma in GAPO syndrome when other treatments fail.
7 citations
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January 2018 in “Neurodegenerative Diseases” Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
February 2013 in “Journal of The American Academy of Dermatology” Oral propranolol successfully treated a baby's skin growth and ulceration linked to PELVIS syndrome.