October 2023 in “The American Journal of Gastroenterology” Cronkhite-Canada syndrome is rare, with high mortality and cancer risk, needing more research for treatment guidelines.
35 citations
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November 2019 in “Journal of the American Academy of Dermatology” A new variant of lichen planopilaris causing diffuse hair thinning was identified.
8 citations
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October 2014 in “The Journal of Dermatology” Patients with alopecia areata should be checked for muscle spasms, diarrhea, and ANA to avoid missing Satoyoshi syndrome.
8 citations
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July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.
6 citations
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January 2016 in “Skin appendage disorders” A man with rare Lichen Planopilaris lost body hair, not scalp hair, and treatment stopped itching but didn't regrow hair.
46 citations
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October 2009 in “Archives of Dermatology” Loose anagen hair syndrome, often affecting young girls, can be diagnosed with a hair-pull test and usually gets better on its own, but severe cases may need treatment.
26 citations
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January 1993 in “Dermatology” A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.
January 1984 in “Japanese Journal of Clinical Immunology” A woman with lupus developed a rare skin condition, which improved with increased medication.
1 citations
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January 2024 in “Clinical Cosmetic and Investigational Dermatology” Recognizing and treating oral lichen sclerosus is important, but treatment guidelines are lacking.
19 citations
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April 2018 in “International Journal of Dermatology” People with Lichen Planopilaris are more likely to have autoimmune diseases, especially Systemic Lupus Erythematosus, and less likely to have diabetes and some other common conditions.
67 citations
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May 2019 in “British Journal of Dermatology” People with mycosis fungoides/Sézary syndrome have a much lower quality of life.
July 2025 in “Dermatology Practical & Conceptual” A 2-year-old boy has a rare hair disorder causing brittle hair and hair loss, which may improve with age.
January 2015 in “Journal of Neuromuscular Diseases” Danon disease can be hard to diagnose due to non-specific symptoms.
4 citations
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January 2015 in “Case reports in urology” An 8-year-old boy recovered from a rare case of penile tourniquet syndrome after hair removal surgery.
2 citations
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June 2025 in “Medicina” Early diagnosis using eye tests and lab markers can improve treatment for pediatric Sjögren's syndrome.
December 2022 in “Gastroenterology” A man with Cronkhite-Canada syndrome improved significantly with immunosuppressive therapy.
1 citations
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January 2019 in “International Journal of Medical Reviews and Case Reports” Treatment with moisturizers improved the skin condition of a girl with a rare genetic skin disorder.
October 2025 in “Journal of the Endocrine Society” Early physical exams are crucial for timely Klinefelter syndrome diagnosis.
8 citations
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August 2019 in “JAAD case reports” Chronic cutaneous lupus erythematosus causes scarring, hair loss, and skin discoloration, especially on sun-exposed areas.
March 2021 in “Annals of Translational Medicine” Two patients with lupus had an unusual type of hair loss not typical for the disease.
May 2021 in “Journal of the Endocrine Society” A woman with a rare ovarian tumor and hyperparathyroidism improved after surgery, highlighting the need for reporting unusual cases to understand and manage rare diseases.
January 2006 in “DOAJ (DOAJ: Directory of Open Access Journals)” Loose anagen hair syndrome causes easily pulled, thin hair in kids but is harmless and temporary.
PNH can occur in patients with SLE, so doctors should be aware of this.
3 citations
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May 2024 in “BMC Medical Genomics” A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
4 citations
,
September 2015 in “JAAD case reports” Substance P may play a role in the inflammation seen in keratosis follicularis spinulosa decalvans.
144 citations
,
May 1990 in “Journal of the American Academy of Dermatology”
7 citations
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January 2015 in “Case reports in genetics” Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
April 2024 in “African Journal of Biological Sciences” The patient with lupus and Degos' disease showed significant improvement with treatment.
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.
25 citations
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October 1996 in “Dermatologic Clinics” Loose Anagen Syndrome causes easy-to-pull, thin hair, mainly in young girls, and improves with age.