September 2022 in “Frontiers in genetics” A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
16 citations
,
June 1992 in “PubMed” Steroid pulse therapy improved symptoms in a man with Satoyoshi syndrome.
3 citations
,
June 2017 in “Reproductive biomedicine online” A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.
7 citations
,
January 2019 in “Postepy Dermatologii I Alergologii” Certain gene variations might be linked to severe acne in women but not in men.
2 citations
,
January 2022 in “JAAD Case Reports” The rash resolved after stopping ponatinib.
139 citations
,
September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the Vitamin D receptor gene can cause hair loss similar to mutations in the Hairless gene.
6 citations
,
February 2023 in “Lara D. Veeken” Satoyoshi syndrome is likely an autoimmune disease.
1 citations
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October 2022 in “Rheumatology” RHUPUS should be considered in children with deforming arthritis.
5 citations
,
November 1979 in “PubMed” A hereditary condition causes hair loss and twisted hair in some family members.
August 2019 in “International journal of contemporary pediatrics” A child with a rare type of rickets showed some improvement with high doses of vitamin D, but such conditions often respond poorly to treatment.
29 citations
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July 1996 in “Acta Paediatrica” Biotin should be added to Japanese amino acid formula to prevent deficiency.
5 citations
,
October 2013 in “Experimental Dermatology” The commentary explains that a balance of HR protein and putrescine is important for normal hair growth.
11 citations
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February 2022 in “JAAD case reports” Abrocitinib, a JAK inhibitor, may help treat atopic dermatitis and alopecia universalis together.
SH-SY5Y cell lysate is effective for diagnosing Satoyoshi syndrome.
January 2025 in “Clinical Cosmetic and Investigational Dermatology” Genetic testing is crucial for diagnosing rare hair loss disorders.
4 citations
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March 2020 in “JAAD Case Reports” Vitamin B12 deficiency can cause darkening of all nails.
January 2025 in “Dermatology Practical & Conceptual” A new genetic model may improve treatment and diagnosis for certain inherited skin diseases.
December 2022 in “Acta Ophthalmologica” Dutasteride potentially improves cell survival and reduces retinal damage in retinitis pigmentosa.
40 citations
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December 2010 in “Human Genetics” 5 citations
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September 2018 in “International journal of genomics” Genetic mutations that disrupt homocysteine breakdown lead to increased damage in mouse hair keratin.
3 citations
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April 2020 in “American Journal of Case Reports” A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
14 citations
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April 2011 in “Journal of the American Academy of Dermatology” Researchers found a gene mutation responsible for a rare hair loss condition.
December 2023 in “Clinical Cosmetic and Investigational Dermatology” An 8-year-old Saudi boy was diagnosed with a rare genetic disorder causing hair loss, skin issues, and light sensitivity.
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.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
November 2022 in “Indian Journal of Dermatology/Indian journal of dermatology” Valproic acid can cause dark lines on nails.
57 citations
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August 1997 in “Pediatrics International” VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.
The enzyme Dgat1 is essential for healthy hair and skin by controlling retinoid levels.
May 2025 in “The Journal of Rheumatology” Atypical symptoms in lupus can indicate different kidney issues.
14 citations
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July 2001 in “American Journal of Human Genetics” Haplogroup X found in Altaian population supports Amerindian origin.