1 citations
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January 2023 in “Annals of Indian Academy of Neurology” Recognizing CVG can help diagnose systemic amyloidosis early.
December 2020 in “Pathology” A man's skin condition and poor diet led to a scurvy diagnosis.
22 citations
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December 2003 in “Veterinary clinical pathology” The Persian cat has a skin infection caused by a fungus, treatable with antifungal medication.
January 2013 in “Kidney international” A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
December 2023 in “Journal of General Procedural Dermatology and Venereology Indonesia” A 61-year-old Filipino man had a skin condition that looked like another disease, making diagnosis difficult.
3 citations
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May 2018 in “European Journal of Dermatology” Photodynamic therapy may not work for erythroplasia of Queyrat and could lead to invasive squamous cell carcinoma.
82 citations
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November 1985 in “Archives of Dermatology” The newborn's skin condition improved over time, leaving only lighter skin patches.
Tricholemmoma is linked to Cowden syndrome and can be benign or malignant.
September 2021 in “Pediatrics in review” A baby with KID syndrome died from infections and organ failure at 18 months old.
6 citations
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July 2009 in “Veterinary dermatology” Vesiculobullous lesions should be considered part of canine cutaneous epitheliotropic T-cell lymphoma.
5 citations
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June 1993 in “Pediatric dermatology” Monilethrix Syndrome causes fragile, beaded hair that breaks easily and needs early diagnosis for better care.
May 2024 in “Animal genetics” A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
November 2024 in “NeoReviews” Pallister-Killian Syndrome is a complex genetic disorder requiring coordinated care and genetic counseling.
January 2026 in “Indian Journal of Paediatric Dermatology” A rare case shows a possible link between Neurofibromatosis type 1 and Becker nevus due to genetic mutations.
January 2024 in “Veterinary Dermatology” A rare skin condition was found in a Labrador retriever outside North America.
January 2024 in “SAGE Open Medical Case Reports” The brothers have congenital ichthyosis, and the older brother's eye issues are due to different genetic mutations.
October 2025 in “Portuguese Journal of Dermatology and Venereology” Accurate diagnosis of facial skin tumors requires detailed analysis to distinguish between benign and malignant types.
5 citations
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March 2005 in “Pediatric dermatology” Keratosis Follicularis Spinulosa Decalvans is a rare genetic disorder causing skin and hair issues, often inherited through the X chromosome.
1 citations
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December 2018 in “Veterinary dermatology” The hair coat disorder in Schipperkes is similar to Alopecia X and involves increased androstenedione levels and hair cycle arrest.
23 citations
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January 1985 in “Journal of Neuropathology & Experimental Neurology” Cupric chloride treatment corrected abnormal Purkinje cell development in brindled mice.
3 citations
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May 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
42 citations
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January 2003 in “International Journal of Gynecological Pathology” PEH in vulvar LS is common and needs careful diagnosis to avoid confusion with cancer.
3 citations
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June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
January 2025 in “Case Reports in Oncological Medicine” Consider Sertoli-Leydig cell tumors in Peutz-Jeghers syndrome patients with adnexal masses.
10 citations
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January 1925 in “Archives of Dermatology” Trichostasis spinulosa is a rare skin condition with hair-filled plugs in hair follicles.
29 citations
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July 2008 in “British Journal of Dermatology” The patient had paraneoplastic pemphigus without mucosal involvement.
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.
June 2004 in “Annales de Dermatologie et de Vénéréologie” July 2023 in “International Journal of Rheumatic Diseases” Ulcerative sarcoidosis in body folds is rare and improved with prednisone and hydroxychloroquine.
December 2020 in “Skin appendage disorders” A young man with an unusual type of scarring hair loss suggests a possible new variant of a known scalp condition.