1 citations
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January 2017 in “International Journal of Trichology” A new mutation caused a rare hair disorder in a Polish girl, not inherited from her family.
A new AIRE gene mutation causes rare autoimmune symptoms in a Lebanese boy.
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.
Polarized microscopy helps identify hair irregularities in genetic disorders.
12 citations
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January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
September 2007 in “The American Journal of Gastroenterology” Cronkhite-Canada syndrome causes chronic diarrhea and has a poor prognosis despite treatment.
January 2015 in “Lume (Universidade Federal do Rio Grande do Sul)” A young Teckel dog had severe skin issues due to mites, worsened by incorrect treatment, needing specific medications and prevention by not breeding affected dogs.
32 citations
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April 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” Loss of keratin K2 causes skin problems and inflammation.
June 2025 in “British Journal of Dermatology” A rare skin condition in a boy is likely due to a specific genetic mutation pattern.
January 2026 in “Animal Genetics” A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
1 citations
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April 2021 in “Annals of Otology Rhinology & Laryngology” Surgical removal is advised for large congenital blue nevi due to rare cancer risk.
October 2013 in “The American Journal of Gastroenterology” The man's diarrhea was caused by a rare disorder called Cronkhite-Canada syndrome, which improved with specific medications.
2 citations
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May 1979 in “PubMed” Monilethrix is not caused by a metabolic defect.
June 2025 in “Histopathology” Epithelial elements in superficial angiomyxomas are non-neoplastic growths mimicking embryogenesis.
2 citations
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May 2014 in “PubMed” A 10-year-old boy was diagnosed with a rare scalp condition causing hair loss and treated with a topical cream.
8 citations
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November 1990 in “Archives of Dermatology” A woman with EMS showed unusual skin mucinosis without the typical hard skin syndrome, suggesting EMS can cause skin mucinosis.
2 citations
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January 2022 in “Indian dermatology online journal” Dermoscopy may not show hookworms clearly, and comparing it with tissue studies could improve diagnosis accuracy for skin conditions caused by parasites.
21 citations
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March 2018 in “American Journal Of Pathology” Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.
49 citations
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January 2013 in “Dermatologic Therapy” Newborns with ichthyosis need specific care based on their skin type.
January 2022 in “International journal of zoology and animal biology” Dogs with dermatomyositis, especially Collies and Shetland Sheepdogs, need better treatments for their skin and muscle inflammation.
9 citations
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August 2024 in “International Journal of Molecular Sciences” Promising treatments for EBS include anti-inflammatory drugs, antibiotics, creams, mTOR inhibitors, and gene editing, but more trials are needed.
37 citations
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June 2000 in “Experimental dermatology” The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
July 2012 in “Reactions Weekly” Minoxidil use was linked to a rare eye condition that improved after stopping the treatment.
8 citations
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September 2016 in “Pediatric dermatology” People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.
August 2018 in “Journal of The American Academy of Dermatology” A 90-year-old woman's hand lesion was a rare, aggressive skin cancer treated successfully with surgery.
The chapter explains that there are many genetic skin disorders affecting skin cell formation, including both common and rare types.
May 2019 in “CINECA IRIS Institutial Research Information System (University of Genoa)” MITF+ melanoma patients are more likely to have multiple melanomas and unique skin patterns.
December 2024 in “Pediatrics in Review” Early detection and treatment of Menkes disease with copper injections are crucial for better outcomes.
February 2025 in “Journal of Paediatrics and Child Health” Genetic analysis is crucial for diagnosing ectodermal dysplasia syndromes, and new therapies may help improve skin issues.
4 citations
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February 2018 in “Annales de Dermatologie et de Vénéréologie” Onychomatricome is a benign nail tumor with specific dermoscopic features that help distinguish it from cancer.