8 citations
,
November 2018 in “BMC Pulmonary Medicine” A 70-year-old woman with bronchiectasis developed a rare immune disease due to a bacterial infection, requiring a difficult balance of treatments.
1 citations
,
May 2023 in “European Journal of Human Genetics” Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
1 citations
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April 2025 in “American Journal of Medical Genetics Part C Seminars in Medical Genetics” Eflornithine improved symptoms in Bachmann–Bupp Syndrome patients.
March 2023 in “The Journal of Urology” Nocturia cases increased, but medication use declined, suggesting under-treatment.
January 2025 in “JCEM Case Reports” Enzyme replacement therapy may help alleviate symptoms in complex cases like this.
9 citations
,
June 2017 in “American journal of ophthalmology. Case reports” A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
July 2025 in “Dermatology Practical & Conceptual” Topical eyedrops may cause eyelash whitening and skin lightening around the eyes.
16 citations
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November 2008 in “Journal of the American Academy of Dermatology” Consider necrolytic acral erythema in similar cases and treat with oral zinc sulfate.
February 2013 in “Journal of the American Academy of Dermatology” ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
December 2025 in “International Journal of Dermatology” Björnstad syndrome can cause hair loss similar to androgenetic alopecia, and treatment with baricitinib and minoxidil may help.
January 2023 in “Skin appendage disorders” A woman's hair grew back after treatment for a rare hair loss caused by proton therapy.
September 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” FOL-026 peptide can help repair blood vessels and promote growth, offering potential treatment for vascular diseases.
1 citations
,
August 2019 in “Chinese Medical Journal” A man developed facial skin lesions after a stem cell transplant, which improved with specific treatments.
April 2018 in “Journal of Investigative Dermatology” Nonmelanoma skin cancers have higher levels of certain osteopontin variants than normal skin.
5 citations
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January 2017 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” Porokeratotic eccrine and hair follicle nevus is a very rare skin disorder possibly caused by a GJB2 gene mutation.
September 2013 in “Oncology Times” Oncology specialists are disappointed by the discontinuation of the effective lymphoma treatment Bexxar.
13 citations
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June 2006 in “Fertility and Sterility” Nonclassic 21-hydroxylase deficiency is a common, treatable genetic disorder causing reversible symptoms like acne and hair loss.
June 2025 in “British Journal of Dermatology” Segmented hair color changes can indicate active alopecia areata.
7 citations
,
January 2012 in “International Journal of Trichology” Sudden, unusual hair loss may indicate serious underlying health issues.
2 citations
,
September 2021 in “JAAD case reports” A man with a weakened immune system was diagnosed with a rare skin condition called trichodysplasia spinulosa using skin examination techniques.
3 citations
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February 2002 in “The American journal of psychiatry” Stopping birth control pills may have triggered a manic episode in a woman with HAIR-AN syndrome.
39 citations
,
January 2008 in “World Journal of Gastroenterology” Pegylated interferon-alpha 2a can cause a rare nerve disorder, but early treatment can lead to full recovery.
1 citations
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October 2020 in “Journal of Investigative Dermatology Symposium Proceedings” Platelet-Rich Plasma treatment improved hair growth and reduced inflammation in patients with patchy hair loss, but not in total hair loss, and Optical Coherence Tomography was useful in tracking this progress.
February 2026 in “Frontiers in Medicine” Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
10 citations
,
April 2014 in “Molecular and Clinical Oncology” Alopecia areata can be an early sign of Hodgkin’s lymphoma and may improve with lymphoma treatment.
5 citations
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January 2018 in “Annals of Dermatology” A 308 nm excimer laser successfully treated a boy with a rare skin condition after about a year of weekly sessions.
January 2025 in “Dermatology Research and Practice” Higher activity in lichen planopilaris is linked to certain immune and tissue genes.
November 2022 in “Journal of Investigative Dermatology” Scientists developed a new way to study mutations in a skin condition using blood cells, which may help diagnose and treat the disease.
5 citations
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January 2017 in “Arquivos Brasileiros de Oftalmologia” A rare genetic disorder causes sparse hair and vision loss due to a CDH3 gene mutation.