January 2025 in “Clinical Pediatric Endocrinology” Calcium supplements improved bone deformities but not skin papules or hair loss.
7 citations
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June 1989 in “Steroids” Researchers successfully made new compounds for hormone level tests, but one attempt led to an unexpected product, correcting a past error.
1 citations
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April 2025 in “Pediatria i Medycyna Rodzinna” Restoring EDA and WNT pathways early may help improve skin, hair, and teeth issues in hypohidrotic ectodermal dysplasia.
18 citations
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June 2016 in “Clinical and Experimental Dermatology” Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.
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.
1 citations
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January 2017 in “Tohoku journal of experimental medicine” A woman's mature cystic teratoma caused her virilization by producing testosterone.
October 2021 in “International Journal of Research in Dermatology” People with alopecia areata often have low vitamin D levels, which may worsen their hair loss.
166 citations
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November 2008 in “Expert Review of Endocrinology & Metabolism” Biotin and biotinidase are essential to prevent health issues, and deficiencies require lifelong supplementation.
119 citations
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November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
114 citations
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June 2000 in “Endocrinology” Alopecia in VDR knockout mice is due to a defect in hair cycle initiation, not keratinocyte issues.
41 citations
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March 2016 in “The Journal of Clinical Endocrinology & Metabolism” In STSD patients, the body compensates for low androgen levels by increasing another enzyme's activity.
74 citations
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July 1995 in “PubMed” Lowering homocyst(e)ine levels can reverse skin and hair lightening by restoring enzyme activity needed for pigmentation.
20 citations
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August 2003 in “Clinical and Experimental Dermatology” A new genetic mutation in the hairless gene causes a rare hair loss disorder.
39 citations
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July 1997 in “American Journal of Medical Genetics” The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
5 citations
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June 2014 in “Der Hautarzt” Genetic testing can identify causes of rare hair loss disorders in children, but no treatments exist.
3 citations
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February 2013 in “Actas dermo-sifiliográficas/Actas dermo-sifiliográficas” A 6-year-old boy developed excessive hair growth after taking diazoxide for low blood sugar.
13 citations
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July 2012 in “Pigment Cell & Melanoma Research” A mutation in the Adam10 gene causes freckle-like spots on Hairless mice.
2 citations
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November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
January 2016 in “Case reports in clinical medicine” A 6-year-old girl was diagnosed with a rare hair disorder called monilethrix.
9 citations
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March 2018 in “European journal of dermatology/EJD. European journal of dermatology” A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
January 2023 in “Indian dermatology online journal” A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.
March 2011 in “Open Archive (Karolinska Institutet)” The mouse model showed defects in adult stem cell maintenance related to Hutchinson-Gilford progeria syndrome.
96 citations
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June 2017 in “Nature Communications” A WNT10A gene mutation leads to ectodermal dysplasia by disrupting cell growth and differentiation.
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May 2020 in “The journal of pediatrics/The Journal of pediatrics” A boy with monilethrix has brittle hair that breaks easily due to a genetic condition, which might improve by puberty.
13 citations
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July 2004 in “Pediatric dermatology” A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
January 2026 in “Frontiers in Medicine” A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
2 citations
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June 2012 in “Journal of Dermatological Science” The gene HDC is important for the development of hair follicles in newborn mice.
84 citations
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June 1970 in “Journal of Investigative Dermatology” 9 citations
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April 1985 in “Archives of Dermatology” Recognizing the "bamboo hair defect" is crucial for diagnosing Netherton's syndrome.
2 citations
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April 2008 in “PubMed” A gene mutation causes monilethrix in a Chinese family.