5 citations
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December 2011 in “Expert Review of Dermatology” The document concludes that early diagnosis and a comprehensive treatment plan are crucial for managing hair loss in children, with a focus on both medical and psychological support.
3 citations
,
April 2016 in “International Journal of Dermatology” A young man was diagnosed with trichoepitheliomas, causing thick skin and hair loss.
January 2023 in “IJEM case reports” A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
8 citations
,
May 2022 in “Orphanet Journal of Rare Diseases” The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
65 citations
,
November 2010 in “Journal of the Neurological Sciences” Kennedy's disease leads to muscle weakness and sensory issues, has no cure but manageable symptoms, and future treatments look promising.
18 citations
,
January 2020 in “Acta dermato-venereologica” Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
17 citations
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November 2012 in “Journal of Investigative Dermatology” The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
46 citations
,
December 2003 in “Advances in neonatal care” Assessing newborn scalp hair can reveal important health information.
2 citations
,
April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
11 citations
,
March 2016 in “Current Medicinal Chemistry” New treatments for prostate cancer and BPH show promise, including novel compounds that target hormone synthesis and response.
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
1 citations
,
May 2023 in “Frontiers in endocrinology” A new MBTPS2 gene variant disrupts fat metabolism and collagen production, causing Osteogenesis imperfecta.
7 citations
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March 2012 in “European Journal of Pediatrics” A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
24 citations
,
January 2000 in “Dermatology” Gene linked to common hair loss found, may lead to new treatments.
22 citations
,
January 2008 in “Physiological Research” Steroid sulfatase is important for activating hormones that affect memory, brain function, and certain diseases, and could be a target for treating hormone-related disorders.
37 citations
,
June 2002 in “The Laryngoscope” Ectodermal dysplasia causes various symptoms and early treatment is important for eye, dental, and skin issues.
The document describes a rare case of IFAP syndrome, a genetic condition with symptoms of hair loss, light sensitivity, and scaly skin.
87 citations
,
March 2014 in “Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids” Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
19 citations
,
October 1985 in “British Journal of Dermatology” The document concludes that unruly hair can be congenital or acquired, often lacks specific treatments, and can be managed with oils and short hairstyles.
75 citations
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June 1999 in “Pediatric Clinics of North America” The document concludes that early recognition and treatment of PCOS in adolescents is crucial for managing symptoms and long-term health risks.
1 citations
,
January 2013 in “Elsevier eBooks” The document reviews various hair and nail disorders, their causes, and treatments, emphasizing the need for proper diagnosis and the link between nail changes and systemic diseases.
January 2023 in “International journal of trichology” Six genetic conditions are often linked to complete scalp hair loss in children.
13 citations
,
January 2012 in “Archives of dermatology” A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
12 citations
,
June 2016 in “Reviews in Endocrine and Metabolic Disorders” Some skin diseases and their treatments can negatively affect male fertility.
2 citations
,
July 2021 in “Genes” A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
January 2024 in “Oxford medical case reports” Standard treatment for congenital erythropoietic porphyria was ineffective over five years.
6 citations
,
May 1993 in “Archives of Disease in Childhood” Children's hair loss can be caused by many factors, including autoimmune diseases, emotional stress, genetics, and infections, with treatment and prognosis varying.
1 citations
,
February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
10 citations
,
September 2012 in “Current Problems in Pediatric and Adolescent Health Care” Hair changes can indicate systemic diseases or medication effects.
42 citations
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May 2013 in “Oral Diseases” Kennedy's disease leads to muscle weakness without a cure, but exercise and managing symptoms may help patients live a normal lifespan.