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.
1 citations
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September 2023 in “Frontiers in Genetics” A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
December 2025 in “Meditsinskiy sovet = Medical Council” Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
2 citations
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September 2017 in “Journal of Investigative Dermatology” Notch1 signaling is impaired in hidradenitis suppurativa, affecting skin and hair cells.
RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.
25 citations
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January 2015 in “World journal of stem cells” Hair follicle stem cells can become different cell types and may help treat neurodegenerative disorders.
2 citations
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December 1997 in “Journal of The American Academy of Dermatology” The document concludes that doctors should monitor children's brain development when treating hemangiomas with interferon alfa and consider stopping the treatment if problems arise, while also exploring drugs that might counteract side effects.
10 citations
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October 2010 in “Hepatology” Certain liver diseases respond well to specific treatments and have varying risks for liver cancer.
January 2026 in “Pediatrics International” Live vaccines can be safely given to infants with a FOXN1 variant if their immune function improves over time.
Hair cortisol may help identify adrenal insufficiency in sickle cell disease patients.
4 citations
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January 2018 in “International Journal of Trichology” A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
January 2017 in “Journal of clinical & experimental dermatology research” Scientists have found a way to create hair follicles from human stem cells, which could potentially be used to treat hair loss.
23 citations
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July 2016 in “JAMA Ophthalmology” CDH3-related disease causes worsening eye and hair issues.
30 citations
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June 2012 in “Current Opinion in Endocrinology, Diabetes and Obesity” Nonclassic congenital adrenal hyperplasia is a genetic disorder causing hormone imbalances, affecting fertility and requiring personalized treatment.
13 citations
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February 2024 in “World Journal of Stem Cells” New markers help understand and use hair follicle stem cells for regeneration.
49 citations
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January 2010 in “International Journal of Pediatric Endocrinology” The document concludes that Nonclassic Congenital Adrenal Hyperplasia requires personalized treatment plans to manage symptoms and fertility, with glucocorticoids being a common therapy.
November 2020 in “Journal of the American Academy of Dermatology” Intense pulsed light with radiofrequency showed mixed results in improving quality of life for hidradenitis suppurativa patients, with no clinical improvements.
4 citations
,
July 2017 in “Journal of Medical Case Reports” The 2012 criteria are better for diagnosing atypical lupus cases.
12 citations
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January 1999 in “Journal of Animal Science” Glucocorticoids and thyroid hormones together are essential for fetal fat development.
39 citations
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June 1982 in “The BMJ” Blood tests confirmed a baby in the womb had a CMV infection.
14 citations
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March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
6 citations
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June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
January 2017 in “Elsevier eBooks” Congenital Adrenal Hyperplasia is mainly caused by enzyme deficiencies, leading to varying symptoms like hormone imbalances and physical changes.
November 2021 in “SPAST Abstracts” The EFH-SLM cream is more effective and gentler for treating excessive hair growth in women.
1 citations
,
August 2024 in “Heliyon” Hair follicle stem cells can become melanocytes to help treat skin depigmentation.
14 citations
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January 2018 in “Endocrine” Cantú syndrome may be linked to pituitary adenomas.
June 2018 in “Global Journal of Reproductive Medicine” Idiopathic hirsutism may be linked to increased skin enzyme activity, and new treatments like laser and eflornithine cream show promise.
31 citations
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January 2007 in “Journal of the American Academy of Dermatology” A rare skin growth was successfully removed without recurrence after one year.
15 citations
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June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
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.