October 2025 in “BMC Pediatrics” Timely zinc treatment is crucial for preventing severe complications in Acrodermatitis enteropathica.
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.
2 citations
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January 2008 in “International Journal of Neuroscience” A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.
2 citations
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January 2025 in “Development” BMP5 is essential for ear cartilage cell growth in rodents.
June 2024 in “The American journal of psychiatry” Schizophrenia risk genes may affect early brain development, contributing to the disease.
March 2023 in “International journal of trichology” Six genetic conditions are often linked to complete scalp hair loss in children.
3 citations
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June 2017 in “Environmental health perspectives” Exposure to certain glycol ethers during pregnancy may be linked to lower verbal comprehension in children.
71 citations
,
February 2020 in “Journal of Translational Medicine” Progress has been made in skin and nerve regeneration, but more research is needed to improve methods and ensure safety.
6 citations
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February 2020 in “Journal of Cutaneous Pathology” Nevus psiloliparus lacks mature hair follicles but keeps other skin structures intact.
January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
April 2019 in “International journal of research in dermatology” A child with rough nails also had hair loss and allergies.
January 2010 in “The Year book of perinatal/neonatal medicine” Early skin biopsy helps diagnose and manage severe skin conditions in babies.
RNA-based treatments show promise for managing Hutchinson-Gilford Progeria Syndrome.
1 citations
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January 2015 in “Case reports in endocrinology” Women with nonclassical congenital adrenal hyperplasia may have a higher risk of fertility issues and miscarriages, and should get genetic counseling.
February 2010 in “Journal of The American Academy of Dermatology” Surgery on a baby with a skin disorder improved eyelid position and eye health.
10 citations
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November 2018 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
50 citations
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February 2007 in “Expert Opinion on Biological Therapy” Hair follicle stem cells could help repair nerves and avoid ethical issues linked to embryonic stem cells.
98 citations
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March 2019 in “Frontiers in immunology” Damaging mutations in NFKB2 cause a severe and distinct form of primary immunodeficiency with early-onset and often ACTH-deficiency.
April 2023 in “Medizinische Genetik” New gene discoveries have improved diagnosis and treatment for skin and hair disorders, but more research is needed to fully understand them.
July 2024 in “Journal of Rare Diseases” Woodhouse-Sakati syndrome shows varied symptoms and genetic differences within families.
16 citations
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July 2021 in “Histopathology” New markers and pathways have been found in skin tumors, helping better understand and diagnose them.
4 citations
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June 2021 in “Wounds-a Compendium of Clinical Research and Practice” Chronic scalp lesions with crusts and pus that heal with strong topical steroids suggest Erosive Pustular Dermatosis, confirmed by biopsy showing specific immune cells.
80 citations
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September 2007 in “Cell Cycle” Stem cells in hair follicles can become various cell types, including neurons.
19 citations
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May 2004 in “The American Journal of Dermatopathology” The research found that a specific gene mutation causes fewer hair follicles and disrupted hair growth cycles, leading to thin and short hair in people with Hypotrichosis with Juvenile Macular Dystrophy.
506 citations
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January 2012 in “Molecular and Cellular Endocrinology” Melatonin affects many body functions beyond sleep by interacting with specific receptors in various tissues.
401 citations
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January 2013 in “Postepy Dermatologii I Alergologii” The paper concludes that understanding melanocyte development can help in insights into skin diseases and melanoma diversity.
375 citations
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July 2006 in “Journal of Investigative Dermatology” Stress can worsen skin and hair conditions by affecting the skin's immune response and hormone levels.
252 citations
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January 2008 in “Trends in Endocrinology and Metabolism” Melatonin in the skin helps protect against damage from stress and UV rays, and could be used to treat certain skin conditions.
240 citations
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April 2011 in “Pigment Cell & Melanoma Research” Melanocyte stem cells in hair follicles are key for hair color and could help treat greying and pigment disorders.
223 citations
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October 2020 in “Microsystems & Nanoengineering” Microtechnology methods improve organoid production for medical research.