31 citations
,
April 2010 in “British journal of dermatology/British journal of dermatology, Supplement” Frontal fibrosing alopecia can cause sudden hair loss on limbs, similar to scalp hair loss.
23 citations
,
January 1985 in “Journal of Neuropathology & Experimental Neurology” Cupric chloride treatment corrected abnormal Purkinje cell development in brindled mice.
20 citations
,
February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
May 2025 in “The Journal of Rheumatology” SLE can cause unusual gastrointestinal symptoms, and immunosuppressive therapy can be effective.
2 citations
,
March 2020 in “Cns & Neurological Disorders-drug Targets” Lurasidone is effective for bipolar depression and schizophrenia, but more safety data is needed.
1 citations
,
October 2008 in “Expert Review of Dermatology” Frontal Fibrosing Alopecia is a slowly progressing hair loss condition, likely underdiagnosed, with ineffective treatments, needing more research to understand it fully.
April 2012 in “The FASEB Journal” LPA 4 helps control blood and lymph vessel development in zebrafish.
1 citations
,
February 1977 in “Archives of Dermatology” Fresh plasma transfusions did not help treat Leiner disease in an infant.
23 citations
,
January 2015 in “Journal of The American Academy of Dermatology” People with myotonic dystrophy type 1 have a higher chance of getting skin tumors, including melanoma.
12 citations
,
March 2004 in “International Journal of Dermatology” A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.
85 citations
,
March 2008 in “Journal of Cell Science” The mutation causing Hutchinson-Gilford progeria syndrome leads to severe skin problems and early death in mice.
May 2014 in “Clinical and Experimental Dermatology” A 70-year-old woman with a rare skin condition improved after treatment with topical steroids and acitretin.
60 citations
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July 2014 in “Autophagy” The protein FLCN is involved in cellular cleanup and is regulated by ULK1.
38 citations
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July 1998 in “Journal of surgical oncology” A woman with breast cancer developed a rare condition causing excessive fine hair growth on her face and body.
January 2021 in “Dermatology online journal” One twin girl has Loose anagen syndrome with poorly anchored hair, diagnosed with a simple hair pull test, while her identical twin does not have the condition.
15 citations
,
August 2022 in “The Application of Clinical Genetics” ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
March 2023 in “Journal of Cosmetic Dermatology” A woman's progressive hair loss was correctly diagnosed as a rare condition called fibrosing alopecia in a pattern distribution after initially being mistaken for a more common type.
ANE syndrome is caused by a mutation in the RBM28 protein that disrupts ribosome assembly.
39 citations
,
May 2019 in “Journal of the American Academy of Dermatology” Hair loss in lupus patients indicates higher disease activity.
29 citations
,
September 1942 in “Archives of ophthalmology” Vogt-Koyanagi syndrome often leads to partial or complete blindness and responds poorly to treatment.
4 citations
,
August 2018 in “Journal of pediatric neurology” Becker's Nevus Syndrome is a rare condition with a skin patch and possible bone and muscle abnormalities, treated mainly for appearance.
20 citations
,
January 2015 in “Biochimica and biophysica acta. Molecular and cell biology of lipids” Lysophosphatidic acid affects sensory neurons and may cause neuropathic pain and itch.
11 citations
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May 2011 in “The Journal of Dermatology” A man had two rare autoimmune diseases that might be connected.
12 citations
,
June 2013 in “The American Journal of Dermatopathology” A new method using visual aids to diagnose hair diseases was effective after brief training.
11 citations
,
July 1991 in “Veterinary Pathology” A dog had a rare skin condition linked to gland and pituitary issues.
13 citations
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July 2014 in “The Journal of Dermatology” Dermoscopy helped diagnose discoid lupus erythematosus in two patients without needing skin biopsies.
11 citations
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September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
September 2024 in “Skin Research and Technology” AFM can help diagnose lichen planopilaris by identifying specific hair structure changes.
April 2019 in “Journal of Investigative Dermatology” The PROCLIPI study found markers that help predict outcomes in skin lymphoma patients.
17 citations
,
July 2017 in “Molecular and Cellular Endocrinology” Effective treatments for spinal and bulbar muscular atrophy are not yet available; more research is needed.