November 2012 in “Experimental and Clinical Endocrinology & Diabetes” A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
5 citations
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February 2025 in “Cell Reports” Skin acetyl-CoA synthesis is crucial for overall lipid balance.
13 citations
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September 2011 in “Archives of dermatology” A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.
5 citations
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January 2011 in “Archives de Pédiatrie” A severe form of Netherton syndrome caused by a specific gene mutation led to neonatal deaths in a family.
October 2025 in “Figshare” Deuruxolitinib improves hair regrowth in alopecia areata but needs more safety research.
2 citations
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July 2022 in “Pediatric dermatology” A toddler with a rash and developmental delays improved after treatment for severe malnutrition caused by a diet lacking in protein.
18 citations
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January 2016 in “Journal of Clinical Medicine Research” A woman with lupus and severe nerve damage improved with specific treatments.
Amino acid storage proteins are essential for maintaining stem cells in female fruit flies.
January 1999 in “Journal of Investigative Dermatology” 38 citations
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May 2017 in “Medical Science Monitor” Myositis in lupus patients is linked to skin rash, hair loss, blood issues, and high disease activity.
April 2018 in “Journal of Investigative Dermatology” IL-17C is important in inflammatory skin diseases and could be a target for treatment.
7 citations
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June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
31 citations
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June 2011 in “Movement Disorders” The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
5 citations
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January 2015 in “Case reports in medicine” A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
October 2024 in “Benha Medical Journal” Patients with Alopecia Areata have higher levels of certain inflammatory markers.
October 2021 in “QJM: An International Journal of Medicine” People with severe hair loss have higher levels of a protein called interleukin 17 in their blood.
18 citations
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October 2022 in “JCI Insight” Abnormal amino acid metabolism may worsen rosacea symptoms.
26 citations
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August 2009 in “Journal of Pediatric Gastroenterology and Nutrition” Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
April 2023 in “The Egyptian Journal of Hospital Medicine” Higher Interleukin 17A levels may indicate more severe alopecia areata.
175 citations
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December 1980 in “Archives of Dermatology” Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
September 2006 in “Pediatrics in Review” Early diagnosis and treatment are crucial for complex medical conditions.
123 citations
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September 1987 in “JAMA” IL-2 treatment causes skin eruptions and other reversible side effects, and may play a role in psoriasis.
13 citations
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March 2014 in “Journal of Clinical Laboratory Analysis” Higher MIF levels in alopecia areata patients suggest it could be a treatment target and disease predictor.
8 citations
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January 2019 in “Turkish journal of medical sciences” Ischemic modified albumin could be a new indicator of oxidative stress in people with alopecia areata.
5 citations
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January 2021 in “Indian Journal of Pharmacology” Nilotinib can cause generalized keratosis pilaris.
October 2025 in “Journal of the Endocrine Society” Combining medication and minimally invasive techniques can effectively manage Marine-Lenhart syndrome.
37 citations
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June 2000 in “Experimental dermatology” The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
6 citations
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April 2012 in “PubMed” Enteral supplements can improve symptoms of Cronkhite-Canada syndrome.
15 citations
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December 2014 in “PLoS ONE” A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.
19 citations
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January 2011 in “Frontiers in Endocrinology” Social isolation makes mice more sensitive to alcohol's effects on brain function.