2 citations
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March 2022 in “Modern Rheumatology Case Reports” A medicine called tofacitinib worked to treat a hair loss condition linked with a muscle and skin disease.
21 citations
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April 2004 in “Australasian Journal of Dermatology” A 3-year-old girl has a rare condition causing sparse hair and nail issues, with minimal improvement from treatment.
9 citations
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February 2002 in “International Journal of Dermatology” The patient's symptoms improved with treatment but recurred when the steroid dose was reduced, requiring ongoing therapy.
January 2023 in “Indian dermatology online journal” A child with trichothiodystrophy also had autoimmune thyroiditis and anemia, which is a new finding.
20 citations
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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.
4 citations
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September 2015 in “JAAD case reports” Substance P may play a role in the inflammation seen in keratosis follicularis spinulosa decalvans.
December 2025 in “Clinical Case Reports” Netherton syndrome causes skin and hair issues, confirmed by "bamboo hair" under dermoscopy, with no cure but managed with topical treatments.
April 2026 in “Reviews in Medical Virology” Trichodysplasia spinulosa is a rare skin condition linked to weakened immune systems, mostly in organ transplant patients.
April 2025 in “Dermatology Practical & Conceptual” UV-enhanced trichoscopy helps diagnose hair shaft disorders like pili annulati.
2 citations
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January 2024 in “SAGE Open Medical Case Reports” Dupilumab can cause lupus-like symptoms, so patients need careful monitoring.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.
47 citations
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June 2011 in “Movement Disorders” The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.
May 2014 in “La Revue de médecine interne” Early detection and treatment of primary biliary cirrhosis and related autoimmune diseases improve outcomes.
2 citations
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January 2014 in “Case Reports in Clinical Medicine” Cronkhite-Canada syndrome is a rare condition causing gut polyps, hair loss, skin changes, and nail issues, often with a poor outlook.
2 citations
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March 2016 in “Serbian Journal of Dermatology and Venerology” A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.
January 2019 in “Przegląd Dermatologiczny” Patients with one autoimmune disease should be checked for other autoimmune disorders.
June 2006 in “British Journal of Dermatology” The document reports unique growth lines in a child after Stevens-Johnson syndrome, skin reaction from parsnips and sun in a girl, and itchy skin with xanthomas in a boy with Alagille syndrome.
11 citations
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January 1989 Two patients had a unique form of trichothiodystrophy with reduced high-sulfur proteins in their hair.
4 citations
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January 2017 in “Annals of Dermatology” Frequent hairdryer use may worsen hair fragility in people with Pili Annulati.
January 2026 in “Animal Genetics” A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
February 2010 in “Journal of The American Academy of Dermatology” A woman's nail separation was likely caused by poor blood flow, and a treatment for similar conditions might help.
17 citations
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April 1997 in “American Journal of Dermatopathology” PC-associated alopecia has unique microscopic features.
1 citations
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September 2023 in “Rheumatology advances in practice” A woman's rare scalp condition worsened after using a specific arthritis medication, suggesting such medications can sometimes trigger or aggravate psoriasis.
99 citations
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October 2008 in “Journal of Investigative Dermatology” Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
January 2025 in “International Journal of Trichology” Increased hair growth after a cast is temporary and harmless.
September 2016 in “Journal of Dermatological Science” Björnstad syndrome causes twisted hair from birth.
3 citations
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January 2018 in “Skin Appendage Disorders” Nail issues are common in alopecia areata patients.
January 2025 in “SAGE Open Medical Case Reports” Combination therapy may be more effective for difficult-to-treat scalp conditions.
Different connective tissue disorders have unique symptoms and treatments, with varying outcomes and often require ongoing care from a specialist.
14 citations
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March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.