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February 1977 in “Archives of Dermatology” Fresh plasma transfusions did not help treat Leiner disease in an infant.
December 2025 in “Experimental Dermatology” Improving blood vessel health and controlling uric acid may help manage alopecia areata.
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June 2019 in “Current developments in nutrition” A combination of arginine silicate complex and magnesium biotinate improves hair and nail growth in rats.
August 2024 in “JAAD Case Reports” Upadacitinib successfully regrew hair in a child with alopecia universalis and specific genetic mutations.
January 1998 in “The Nishinihon Journal of Dermatology” A 7-year-old girl was diagnosed with Netherton's Syndrome, shown by skin and hair symptoms.
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August 2020 in “JCRPE” A girl with Denys-Drash syndrome was misdiagnosed due to biotin affecting her hormone test results.
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July 2018 in “European Journal of Dermatology” A medication may help with hair growth in psoriasis, and a skin condition might be linked to a specific bacteria.
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August 1998 in “Pain” Blocking GABA(A) receptors increases neuron sensitivity, showing GABA and glycine have different roles in pain.
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January 2022 in “BMC Medical Genomics” Different gene mutations cause different types of ichthyosis, with some new mutations found.
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August 1996 in “The Journal of Clinical Endocrinology & Metabolism” The same gene mutation can cause different symptoms in family members.
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June 2025 in “Pigment Cell & Melanoma Research” SASH1 gene mutations are linked to various inherited skin pigmentation disorders.
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October 2014 in “Scottish medical journal” Nitrofurantoin may cause sub-acute cutaneous lupus erythematosus.
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.
May 2025 in “The Journal of Rheumatology” Atypical symptoms in lupus can indicate different kidney issues.
7 citations
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January 2020 in “Journal of Dermatology” Cantu syndrome, which causes excessive hair growth and skin issues, is due to a mutation in the ABCC9 gene, and understanding this could help develop new treatments for hair diseases.
November 2012 in “Journal of Clinical Pathology” September 2014 in “Emergency Medicine News” The man's skin condition improved with sun protection and topical steroids, but UV exposure still caused flare-ups.
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November 1991 in “PubMed” Immunoadsorption successfully treated a man's resistant polymyositis.
December 2023 in “American journal of medical genetics. Part A” A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
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January 2018 in “Endocrine” Cantú syndrome may be linked to pituitary adenomas.
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September 2021 in “F1000Research” The ABCG2 gene variant increases the risk of high uric acid and cholesterol, especially in overweight or obese young Mexican males.
March 2023 in “Authorea (Authorea)” Early diagnosis and treatment of systemic-onset juvenile idiopathic arthritis are crucial for improvement.
January 2015 in “International Journal of Nanomedicine” Anionic squarticles can effectively counteract amitriptyline overdose, improving survival rates.
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October 2022 in “The American Journal of Gastroenterology” Chronic arsenic exposure can cause liver damage and other health issues.
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August 1952 in “The Journal of Clinical Endocrinology & Metabolism” A 17-year-old female with adrenogenital syndrome produces very high levels of androgens, which prevent complete feminization despite high estrogen doses.
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January 2001 in “Biomedical Research” Trichohyalin and peptidylarginine deiminase type III are found together in rat hair follicles, with trichohyalin being modified after expression.
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.
January 1995 in “Adolescent and pediatric gynecology” Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.
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April 2008 in “Clinical Genetics” A new mutation in the ST14 gene was found in a patient with ARIH syndrome, showing milder symptoms and no tooth issues.