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.
December 2019 in “Saintika Medika” A woman with lupus also developed a severe skin condition linked to a genetic factor.
February 2023 in “Research Square (Research Square)” Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
1 citations
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June 2025 in “Pigment Cell & Melanoma Research” SASH1 gene mutations are linked to various inherited skin pigmentation disorders.
The study identified a key protein involved in producing underarm odor and found ways to inhibit it.
December 2023 in “International Journal of Dermatology”
1 citations
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August 2024 in “Skin Research and Technology” There is no causal relationship between androgenetic alopecia and serum uric acid.
April 1974 in “Pediatric Research” The Naked (N) trait in mice is linked to lower glycine and tyrosine in hair proteins.
April 2015 in “Journal of Nutritional Therapeutics” Looser dietary restrictions can improve growth and reduce illness in methylmalonic acidemia patients.
October 2011 in “Journal of dermatology” A man with a rare skin condition and a new gene mutation developed high calcium levels due to his treatment.
January 2007 in “Revista del Centro Dermatológico Pascua” A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
1 citations
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November 2023 in “Cureus” Early diagnosis of Bloch-Sulzberger Syndrome is crucial to prevent severe complications.
January 1996 in “Studia iuridica” Two new gene mutations cause a rare hair disorder.
April 2024 in “Anais Brasileiros de Dermatologia” 1 citations
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August 2015 in “AACE Clinical Case Reports” A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
20 citations
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October 2005 in “Archives of Dermatological Research”
January 2023 in “Indian dermatology online journal” A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
31 citations
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May 2021 in “Journal of endocrinological investigation” APS-1 in Italy shows diverse AIRE mutations and various autoimmune issues.
6 citations
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January 2000 in “The Journal of Trace Elements in Experimental Medicine” Zinc supplements effectively treat acrodermatitis enteropathica.
14 citations
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February 1991 in “FEBS Letters” Introducing the rat OTC gene partially corrected OTC deficiency in mice.
3 citations
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January 2014 in “Indian dermatology online journal” A newborn girl has a rare skin condition with two ulcers on her buttock that are healing on their own.
4 citations
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January 1976 in “Archives of Dermatological Research” Metabolic disorders can cause hair structure defects and growth issues, but amino acid levels in hair remain normal.
6 citations
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August 2024 in “BMC Ophthalmology” New genetic variants linked to albinism were found in Pakistani families.
12 citations
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September 1981 in “Acta Dermato Venereologica” Zinc supplements improved the girl's hair growth and thickness.
November 2024 in “JAAD Case Reports” A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
87 citations
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March 2017 in “Journal of Clinical Investigation” PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
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.
6 citations
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January 2003 in “Dermatology” Men with X-linked recessive ichthyosis often experience male-pattern baldness.
8 citations
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October 2014 in “The Journal of Dermatology” Patients with alopecia areata should be checked for muscle spasms, diarrhea, and ANA to avoid missing Satoyoshi syndrome.