September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain proteins are significantly increased in the skin of people with hidradenitis suppurativa.
January 2022 in “Indian dermatology online journal” A baby with a skin condition improved with treatment but developed a rare form of the condition affecting only his trunk.
49 citations
,
January 1972 in “Biochimica et Biophysica Acta (BBA) - Protein Structure”
An infant with a zinc deficiency skin disorder improved with zinc treatment.
1 citations
,
January 2024 in “Curēus” Upadacitinib significantly improved a man's severe scalp condition when other treatments failed.
December 2022 in “Acta Ophthalmologica” Dutasteride potentially improves cell survival and reduces retinal damage in retinitis pigmentosa.
13 citations
,
June 2010 in “Journal of The American Academy of Dermatology” A man with Cronkhite-Canada syndrome had all 20 nails detach but improved with treatment.
August 2025 in “American Journal of Case Reports” Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
18 citations
,
January 1977 in “Annals of Nutrition and Metabolism” Genetic disorders can disrupt mineral and trace element metabolism, affecting health.
5 citations
,
February 2025 in “Cell Reports” Skin acetyl-CoA synthesis is crucial for overall lipid balance.
May 2025 in “Frontiers in Pharmacology” Targeting gut microbiome and metabolome may help treat autoimmune skin diseases like alopecia areata.
1 citations
,
October 2023 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” A man developed skin lesions as a side effect of a gamma secretase inhibitor used for treating a tumor.
September 2024 in “Journal of the American Academy of Dermatology” Early intervention is important for limited systemic sclerosis patients due to higher pain and ulceration risks.
1 citations
,
November 2011 in “Turkish Journal of Dermatology” Biotin treatment improved hair and skin issues in a child with biotinidase deficiency.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
1 citations
,
October 2022 in “Rheumatology” RHUPUS should be considered in children with deforming arthritis.
12 citations
,
May 2023 in “Molecules” Polygoni Cuspidati Rhizoma et Radix contains compounds that inhibit certain enzymes.
5 citations
,
November 2012 in “Journal of Clinical Psychopharmacology” Valproic acid and isoniazid can interact, causing toxicity, so careful monitoring is needed.
July 2025 in “Journal of Investigative Dermatology” 1 citations
,
February 2013 in “InTech eBooks” LEKTI is crucial for skin barrier and immune function, affecting conditions like Netherton syndrome and atopic dermatitis.
119 citations
,
November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
October 2025 in “Indian Journal of Paediatric Dermatology” Zinc treatment improved skin and hair issues in a boy with a zinc-related condition.
Lysine carboxymethyl cysteinate (LCC) protects skin from UVB damage by activating autophagy.
57 citations
,
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.
20 citations
,
October 2005 in “Archives of Dermatological Research” 14 citations
,
December 2017 in “Journal of Intensive Care” Lithium poisoning can cause severe health complications and requires careful monitoring.
32 citations
,
July 2003 in “Annals of the Rheumatic Diseases” A 13-year-old girl with various symptoms was successfully treated for autoimmune disease using the antibiotic co-trimoxazole.
91 citations
,
November 2008 in “Journal of biological chemistry/The Journal of biological chemistry” DGAT1 enzyme is crucial for healthy skin and hair by regulating retinoid levels.
December 2025 in “Meditsinskiy sovet = Medical Council” Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
11 citations
,
January 2014 in “Dermatology” Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.