20 citations
,
May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
September 2022 in “JAMC. Journal of Ayub Medical College, Abbotabad, Pakistan/Journal of Ayub Medical College” A boy with a rare skin condition improved quickly after starting zinc supplements.
32 citations
,
May 1986 in “Archives of Dermatology” The condition is likely inherited in an autosomal-dominant pattern.
7 citations
,
June 2016 in “Bone Research” A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
4 citations
,
December 2013 in “The Journal of Dermatology” A new mutation in the K6b gene caused a girl's late-appearing nail condition.
151 citations
,
June 2010 in “Endocrinology and metabolism clinics of North America” Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
309 citations
,
June 2001 in “Molecular and Cellular Endocrinology” Mutations in the androgen receptor gene cause androgen insensitivity, leading to female traits in genetically male individuals.
3 citations
,
January 2007 in “Korean Journal of Pediatrics” Zinc supplements can help skin issues even if blood zinc levels are normal.
18 citations
,
January 1992 in “Dermatology” A 4-year-old girl has a rare condition causing hairlessness and skin bumps, but normal teeth and sweating.
5 citations
,
December 2004 in “Dermatology” Two women with very high androgen levels had only slight skin issues, one due to a non-classical adrenal disorder and the other due to an adrenal tumor.
31 citations
,
June 2011 in “Movement Disorders” The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
54 citations
,
November 2001 in “Urology” The length of the CAG repeat in the androgen receptor gene affects the risk and progression of prostate cancer, BPH, infertility, and undermasculinized genitalia.
7 citations
,
February 2017 in “Open veterinary journal” Tiger cubs fed artificial milk lacking certain amino acids developed eye problems and hair loss.
6 citations
,
February 1989 in “PubMed” Hair glycation can indicate long-term blood sugar levels and diabetic nerve issues.
The document's conclusion cannot be provided because the document is not available or cannot be read.
September 2025 in “OBM Genetics” Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.
11 citations
,
September 2010 in “American Journal of Medical Genetics - Part A” A Turkish family with sparse hair and eyebrow loss has a mutation in the U2HR gene linked to Marie Unna hereditary hypotrichosis.
49 citations
,
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.
150 citations
,
November 2007 in “The Journal of Clinical Endocrinology and Metabolism” About 2.2% of women with symptoms of high male hormones have a mild form of congenital adrenal hyperplasia, and measuring a specific hormone level can accurately diagnose it.
34 citations
,
August 2005 in “Veterinary Dermatology” Goats may need lifelong zinc supplements due to hereditary zinc absorption issues.
14 citations
,
June 2009 in “Journal of veterinary internal medicine” High doses of albendazole can be deadly for alpacas.
1 citations
,
October 2015 in “Renal Failure” Hair loss linked to kidney stones in people under 60.
42 citations
,
September 1985 in “British Journal of Dermatology” Trichothiodystrophy causes abnormal protein deposits and distortion in hair follicles.
2 citations
,
October 1961 in “Experimental Biology and Medicine” Natural feedstuffs help reduce muscular dystrophy in rabbits more than selenium or vitamin E alone.
9 citations
,
July 1993 in “Archives of dermatology” Pityriasis amiantacea is a scalp condition with thick, greasy scales and sometimes hair loss.
13 citations
,
July 2004 in “Pediatric dermatology” A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
10 citations
,
December 2008 in “Journal of Clinical Neuromuscular Disease” Finasteride can cause muscle pain and high creatine kinase levels, but stopping the medication may resolve symptoms.
15 citations
,
June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
The man had myotonia, which caused delayed hand grip relaxation.
6 citations
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May 2012 in “Archives of Dermatological Research” A new mutation in the HR gene is linked to a rare form of hair loss with limb deformities.