20 citations
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May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
March 2023 in “Pediatrics & neonatology” A baby girl had two brain-related growths removed and is developing normally.
15 citations
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November 1998 in “Australasian Journal of Dermatology” Cicatricial pemphigoid rarely affects the scalp but is hard to treat when it does.
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.
56 citations
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July 2004 in “Mechanisms of Development” Pax9 is crucial for proper tongue surface development and preventing skin-like changes.
3 citations
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March 2013 in “American Journal of Dermatopathology” Ossification in trichilemmal cysts is more common than previously believed.
5 citations
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July 2023 in “Microorganisms” The study found specific skin and cell changes in patients with monkeypox, helping diagnose and understand the disease.
December 2022 in “Laboratory Animal Research” Trichoblastomas in aged house musk shrews show unique features and may involve serum amyloid A in inflammation.
December 2018 in “Bioscience Journal” Leporacarus gibbus mite was found in a domestic rabbit in Espírito Santo, Brazil, for the first time.
13 citations
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February 2006 in “Clinical and Experimental Dermatology” A benign tumor developed at a girl's BCG vaccination site, not previously linked to the vaccine.
July 2023 in “Indian Journal of Sexually Transmitted Diseases and AIDS” "Moth-eaten alopecia" can be a sign of secondary syphilis, treatable with penicillin.
December 2021 in “International journal of research - granthaalayah” A young woman had a rare, usually non-cancerous tumor on her face that was initially mistaken for a different condition.
1 citations
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July 2022 in “BMJ Case Reports” A woman was wrongly diagnosed with lupus but actually had leprosy.
November 2023 in “Berkala Ilmu Kesehatan Kulit dan Kelamin/Berkala ilmu kesehatan kulit dan kelamin (Periodical of dermatology and venerology)” A dermoscope helps accurately tell apart Pityrosporum folliculitis and Acne vulgaris.
18 citations
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February 2001 in “Der Hautarzt” A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.
1 citations
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January 2013 in “Lung India” Radiological findings help distinguish LAM, PLCH, and BHD to avoid invasive tests.
December 2024 in “Indian Journal of Dermatology” Dermoscopy is useful for diagnosing Atrichia with Papular Lesions in children without needing a biopsy.
March 2025 in “American Journal of Medical Genetics Part A” A rare genetic variant linked to skin cysts was found in blood DNA, suggesting its role in cyst formation.
28 citations
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May 1998 in “Journal of the American Academy of Dermatology” Scalp inflammation can cause multiple hairs to grow from one follicle.
2 citations
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October 2001 in “Mycoses” A cat had a rare fungal infection caused by Microsporum gypseum.
May 2023 in “Zenodo (CERN European Organization for Nuclear Research)” Pyoderma gangrenosum can occur in rheumatoid arthritis patients and may be mistaken for vasculitis.
22 citations
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April 2012 in “The American journal of pathology” Loss of Msx2 function causes eye development issues similar to Peters anomaly.
4 citations
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May 2020 in “Journal of The American Academy of Dermatology” Cicatricial pattern hair loss is likely advanced common baldness, not a type of lichen planopilaris.
7 citations
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January 2016 in “Case reports in pediatrics” A girl with Becker's nevus syndrome showed good improvement in breast development using spironolactone.
September 2023 in “Journal of the American Academy of Dermatology” BAP1 mutations are rare in pediatric melanocytic tumors and may develop later in life.
7 citations
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January 2020 in “Dermatology online journal” An adult with a rare skin condition improved with tazarotene treatment.
3 citations
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October 2001 in “British Journal of Ophthalmology” An isolated episcleral plasmacytoma can mimic episcleritis, making diagnosis challenging.
13 citations
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September 2011 in “Archives of dermatology” A patient with steroid sulfatase deficiency had a unique hair pattern and a brain malformation not previously linked to the condition.