6 citations
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May 2002 in “British journal of dermatology/British journal of dermatology, Supplement” A rare skin condition linked to leukemia improved with chemotherapy.
October 2025 in “Journal of the Endocrine Society” A rare ovarian tumor was found in a young woman with a genetic fat disorder.
December 2014 in “Actas dermo-sifiliográficas/Actas dermo-sifiliográficas” Hair removal with intense pulsed light can cause rare skin lesions that are hard to fully treat.
1 citations
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January 2023 in “Pediatric Dermatology” Early diagnosis and teamwork are crucial for managing ILVASC effectively.
December 2022 in “Curēus” Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.
April 2016 in “Journal of the American Academy of Dermatology” Treatment improved some symptoms but not all.
30 citations
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August 1984 in “Journal of the American Academy of Dermatology” Low-sulfur hair syndrome can cause UVB sensitivity and testicular failure.
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
8 citations
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January 2014 in “Indian Journal of Paediatric Dermatology” Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.
1 citations
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September 2022 in “European Journal of Dermatology” Gene sequencing is essential for diagnosing junctional epidermolysis bullosa.
8 citations
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December 2009 in “Journal of The European Academy of Dermatology and Venereology” Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
December 2019 in “The American Journal of Gastroenterology” Small bowel lesions in Cronkhite-Canada syndrome persist despite steroid treatment.
September 2025 in “Cureus” Early recognition and multidisciplinary management are crucial for improving outcomes in Parry-Romberg syndrome.
October 2022 in “Journal of advanced research in medicine” A woman with Sheehan syndrome improved with hormone treatment.
November 2025 in “Clinical Cosmetic and Investigational Dermatology” LIPH mutations cause woolly hair in some Chinese people.
2 citations
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March 2019 in “Veterinary dermatology” Thymoma in cats can cause hair loss without inflammation.
1 citations
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August 2021 in “Movement disorders clinical practice” A man with Isaac's syndrome affecting only one side of his body improved after immune system-targeted treatment.
2 citations
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November 2015 in “Endocrinology, Diabetes & Metabolism Case Reports” A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
June 2005 in “Journal of Investigative Dermatology” A bull with a gene mutation was asymptomatic, synthetic retinoids cause hair loss, and new therapeutic targets were identified for skin diseases.
April 2017 in “Medicina Clínica (english Edition)” A woman with a rare form of multiple myeloma had a headache and a skull mass, which led to her diagnosis after tests and a biopsy.
October 2022 in “Dermatology practical & conceptual” Scalp skin condition LEDS has similar features to Zoon's balanitis, a mucosal skin disorder.
September 2016 in “European Journal of Pediatric Dermatology/PD. European journal of pediatric dermatology” Ulerythema ophryogenes causes hair thinning and inflammation, with limited treatment options.
March 2023 in “European journal of internal medicine” The patient's long-term symptoms were due to Sheehan's syndrome, which improved with hormone therapy.
1 citations
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June 2022 in “Movement disorders clinical practice” A patient with Wilson's disease showed hair-pulling behavior as an initial symptom.
11 citations
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January 2014 in “Dermatology” Certain SPINK5 gene mutations are common in Israeli families with Comèl-Netherton syndrome.
1 citations
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April 2016 in “Journal of The American Academy of Dermatology” The study concludes that Loose Anagen Hair Syndrome is a benign condition that usually improves with age but can be hard to diagnose and stressful for the family.
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
Many patients with cutaneous lupus erythematosus experience hair loss and nail problems, which are important for diagnosis and treatment.
2 citations
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April 2012 in “American Journal of Dermatopathology” Accurate diagnosis of NLS with dilated hair follicles is crucial to distinguish it from other conditions.