August 2023 in “Acta Scientific Paediatrics” A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
7 citations
,
February 2011 in “Journal of dermatology” The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
29 citations
,
June 2016 in “Experimental Dermatology” MCHR2 gene duplications may be linked to alopecia areata.
109 citations
,
April 1997 in “Journal of Lipid Research” Linoleate deficiency in rats reduces growth and n-6 polyunsaturate accumulation, causing mild symptoms.
14 citations
,
February 1991 in “FEBS Letters” Introducing the rat OTC gene partially corrected OTC deficiency in mice.
11 citations
,
December 2018 in “Bone” Removing a methyl group from the ITGAV gene speeds up bone formation in a specific type of bone disease model.
April 2020 in “Journal of evolution of medical and dental sciences” A one-year-old child with a genetic condition had symptoms improved by treating zinc deficiency.
43 citations
,
April 2010 in “Clinical genetics” Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
53 citations
,
May 1996 in “The Journal of Clinical Endocrinology & Metabolism” Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
February 2026 in “International Journal of Clinical Dermatology” A multi-drug treatment can effectively clear extensive calcinosis in juvenile dermatomyositis.
8 citations
,
February 2021 in “Biomolecules & therapeutics” Myristoleic acid helps hair growth by boosting cell growth and recycling processes in hair follicle cells.
January 2005 in “Enlighten: Publications (The University of Glasgow)” Melanocyte pathology requires keratinocyte hyperplasia and regulation dysfunction.
July 2025 in “Frontiers in Medicine” Mutations in the LIPH gene cause woolly hair in a child.
May 2019 in “CINECA IRIS Institutial Research Information System (University of Genoa)” MITF+ melanoma patients are more likely to have multiple melanomas and unique skin patterns.
52 citations
,
May 1982 in “The American journal of the medical sciences” Vitamin A toxicity likely caused the patient's high calcium levels.
112 citations
,
August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
8 citations
,
July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
November 2025 in “Journal of Investigative Dermatology” Tanning ability is linked to specific DNA changes in skin genes.
November 2016 in “The Molecular Biology Society of Japan” 47 citations
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September 2002 in “Journal of Bone and Mineral Research” A mutation in the vitamin D receptor causes severe resistance to vitamin D, affecting bone health but not hair growth.
April 2020 in “Journal of the Endocrine Society” A toddler with unusual hypothyroidism symptoms improved with levothyroxine treatment.
38 citations
,
September 1997 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in mice causes hair loss and skin issues due to a defect in a gene affecting cell adhesion.
6 citations
,
March 2016 in “Multiple sclerosis and related disorders” Dimethyl-fumarate may cause temporary hair loss.
372 citations
,
December 2004 in “Nature Genetics” 5 citations
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February 2022 in “Molecular genetics & genomic medicine” New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
8 citations
,
August 1970 in “JAMA” Excessive vitamin A can cause symptoms that mimic serious brain conditions.
Retinoids or their analogs could treat skin pigmentation disorders like melasma and vitiligo.
26 citations
,
January 1993 in “Dermatology” A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.
8 citations
,
March 2015 in “Neuromuscular Disorders” People with Myotonic Dystrophy type 1 are more likely to have certain skin conditions, but not more likely to get skin cancer.
16 citations
,
April 2006 in “Pediatrics International” High-dose mizoribine effectively controls symptoms in adolescents with lupus while reducing steroid use, with manageable side effects.