June 2025 in “Molecular Genetics & Genomic Medicine” Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
22 citations
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April 2000 in “International Journal of Dermatology” A 78-year-old farmer with lung disease had skin lesions from a fungal infection that healed completely with medication.
Acitretin treatment unexpectedly darkened a patient's gray hair.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requires high doses of calcium and vitamin D for management.
August 2018 in “Online journal of neurology and brain disorders” Sodium valproate is effective in treating epilepsy, especially in patients who don't respond to other medications.
May 2011 in “Journal of Clinical Neuroscience” The woman was diagnosed with Vogt–Koyanagi–Harada disease and successfully treated with medication, restoring her vision and stopping headaches.
15 citations
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October 2012 in “Journal of child neurology” The same genetic mutation in Sjögren-Larsson syndrome can lead to different levels of severity, suggesting other factors influence the symptoms.
January 2019 in “Pediatric Oncall” Sodium valproate can rarely cause curly hair in children.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
Long-term use of seizure medications can disrupt calcium metabolism, but this can be treated with vitamin D or UV light and does not affect seizure control.
January 2004 in “Headache” Divalproex sodium significantly improved headaches in two-thirds of patients.
March 2026 in “Preprints.org” Plerixafor may help treat pigmentation disorders by promoting skin repigmentation.
August 2025 in “International Journal of Research in Dermatology” Increasing zinc intake improved skin and hair symptoms in a rare genetic disorder.
June 2010 in “Chinese Journal of Dermatology” A new gene mutation is linked to monilethrix in the studied family.
April 2015 in “Dentistry 3000” Premature hair graying in the face may be influenced by genetics and environment.
6 citations
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August 1993 in “Archives of Dermatology” The study found that polymorphous light eruption varies among patients and can be distinguished from benign summer light eruption by the time it takes for symptoms to appear after sun exposure.
4 citations
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October 2011 in “International Journal of Dermatology” Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
July 2021 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” Monilethrix causes different levels of hair loss in family members.
18 citations
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January 1999 in “CNS Drugs” Some anticonvulsant drugs can cause skin reactions, ranging from mild to severe, and managing these reactions is important for patient care.
May 2021 in “Open Access Macedonian Journal of Medical Sciences” People with premature hair graying have an imbalance between harmful and protective molecules in their body, hinting that antioxidants might help.
January 2011 in “Annals of dermatology/Annals of Dermatology” A woman's psoriasis improved after hepatitis C treatment with interferon, despite interferon's risk of worsening skin conditions.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.
22 citations
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September 2015 in “Clinical lymphoma myeloma & leukemia/Clinical lymphoma, myeloma and leukemia” Recognizing and treating skin symptoms in essential thrombocythemia is crucial for patient quality of life.
12 citations
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June 2006 in “Pediatric blood & cancer” A 16-year-old boy had pernicious anemia, autoimmune hemolytic anemia, and later developed alopecia areata.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
99 citations
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March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
10 citations
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October 2015 in “Journal of the International Association of Providers of AIDS Care” A woman with HIV had a severe skin condition that improved with antiretroviral therapy.
28 citations
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January 1985 in “Journal of the American Academy of Dermatology” A girl with citrullinemia developed pili torti, suggesting a link between the hair condition and the metabolic disorder.
1 citations
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November 2024 in “AME Medical Journal” Vitamin C deficiency can persist in high-risk patients despite supplementation.
4 citations
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September 2021 in “Hormone and Metabolic Research” Different forms of the Vitamin D receptor can impact metabolic and hormone issues in Polycystic Ovary Syndrome.