43 citations
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April 2010 in “Clinical genetics” Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
October 2016 in “Veterinary record case reports” A cat had a rare skin disorder with hair loss and scaling, linked to a suspected tumor.
December 2021 in “Folia veterinaria” Over half of the dog skin disorders discussed have known gene variants, enabling genetic testing for diagnosis and responsible breeding.
June 2008 in “Springer eBooks” The document concludes that permanent hair loss conditions are complex, require early specific treatments, and "secondary permanent alopecias" might be a more accurate term than "secondary cicatricial alopecia."
November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
56 citations
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September 2010 in “Veterinary pathology” Certain mouse strains develop a skin condition similar to a human hair loss disease due to genetic defects.
30 citations
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June 2021 in “British Journal of Dermatology” Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.
April 2025 in “Experimental Eye Research” The Oat mouse model shows mild retinal degeneration, useful for testing treatments.
January 2026 in “Frontiers in Medicine” FFA and FAPD might be related or stages of the same disease.
58 citations
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November 1969 in “British Journal of Dermatology” Netherton's disease causes multiple hair defects.
5 citations
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January 2018 in “JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH” Flat feet in obese individuals may indicate metabolic syndrome.
2 citations
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February 2021 in “Journal of comparative pathology” Sheep with chronic Sarcoptes scabiei dermatitis have altered keratin expression in their skin.
8 citations
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April 2017 in “American Journal of Dermatopathology” Inflammation may cause nail issues in Cronkhite–Canada Syndrome.
35 citations
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September 2006 in “American Journal Of Pathology” Odontogenic keratocysts are caused by abnormal Hedgehog signaling and can lead to tooth and bone issues.
November 1997 in “Open Archive (Karolinska Institutet)” PTCH gene mutations contribute to basal cell carcinoma development.
2 citations
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January 1975 in “Archives of Dermatological Research” Certain enzymes react strongly with some hormones in rat skin during hair growth, mainly in sebaceous glands and hair sheaths.
1 citations
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July 2021 in “Journal of Skin and Sexually Transmitted Diseases” Lipedema is a painful fat disorder in women that's hard to treat, often worsens with hormonal changes, and requires symptom-focused therapies.
80 citations
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January 1979 in “Journal of Surgical Oncology” Keratoacanthoma is a common, usually non-dangerous skin tumor that looks like squamous cell carcinoma but rarely becomes severe.
6 citations
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December 2015 in “Medicine” Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
5 citations
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October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” The research linked PLCD1 gene variants to the development of trichilemmal cysts.
12 citations
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June 2013 in “International Journal of Dermatology” Seborrheic keratosis shows varied cell differentiation, and keratin analysis helps diagnose skin tumors.
June 2025 in “Histopathology” Epithelial elements in superficial angiomyxomas are non-neoplastic growths mimicking embryogenesis.
2 citations
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June 2021 in “PubMed” Chronic scalp lesions with crusts and pus indicate Erosive Pustular Dermatosis, which is confirmed by biopsy and effectively treated with strong topical steroids.
1 citations
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January 2013 in “Lung India” Radiological findings help distinguish LAM, PLCH, and BHD to avoid invasive tests.
80 citations
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March 2004 in “Neuropediatrics” Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
35 citations
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March 2010 in “BMC veterinary research” Goats with BSE or scrapie show varying symptoms, and using only clinical signs may not detect all scrapie cases.
January 2022 in “Function” Studying rare genetic disorders can help us understand and treat common diseases better.
4 citations
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September 2020 in “Journal of Cutaneous Pathology”
7 citations
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September 2011 in “International Journal of Dermatology” The Korean study found that twenty-nail dystrophy mainly affects adults, more often women, and has five distinct types with different clinical progressions.
6 citations
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September 2018 in “ACS applied bio materials” Calcium fatty acid deposits found in human hair can change its appearance and feel.