44 citations
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January 2004 in “American journal of clinical dermatology” Understanding genetic mutations helps diagnose and treat skin disorders like ichthyosis.
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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July 2015 in “Microscopy Research and Technique” Friedreich's ataxia causes thin, weak hair with surface damage and cavities.
March 2021 in “Research Society and Development” A blue Staffordshire Bull Terrier had hair loss due to color dilution alopecia, confirmed by tests, but no treatment was pursued.
6 citations
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May 2024 in “Developmental Biology”
February 2021 in “International journal of research in dermatology” A boy's hair, nails, and skin improved after 6 months of steroid treatment.
April 2017 in “IOSR journal of dental and medical sciences” Netherton Syndrome is a non-treatable genetic disorder in children causing skin, hair, and allergy issues.
December 2025 in “Clinical Cosmetic and Investigational Dermatology” Early diagnosis and multidisciplinary care, including orthopedic surgery, can prevent long-term disability in IFAP syndrome.
39 citations
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September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
January 2006 in “International water power & dam construction” Nevus comedonicus can appear later in life and affect both eyelids.
May 2024 in “Indian Journal of Dermatology” The woman has a rare skin condition called follicular Dowling-Degos disease, which has limited treatment options.
January 2022 in “Indian dermatology online journal” A baby with a skin condition improved with treatment but developed a rare form of the condition affecting only his trunk.
6 citations
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August 2012 in “The Journal of Pediatrics” A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.
19 citations
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January 2018 Most people with alopecia areata have nail changes, which are common but don't greatly affect their quality of life.
88 citations
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March 2004 in “Journal of Investigative Dermatology”
13 citations
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September 1989 in “International Journal of Dermatology” Carbamazepine may cause reversible nail detachment.
June 2023 in “British Journal of Dermatology” The protein called small nuclear ribonucleoprotein polypeptide E is identified as a cause of a type of hair loss without other symptoms.
49 citations
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September 2004 in “Journal of the European Academy of Dermatology and Venereology” Careful light microscopy is crucial for detecting mild cases of pili annulati, which weakens hair and varies widely in expression.
March 2015 in “Polish Journal of Public Health” Blood vessel patterns in skin diseases relate to certain blood markers in systemic sclerosis but not in psoriasis or psoriatic arthritis, and may indicate circulation issues in alopecia.
2 citations
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November 2018 in “Veterinary Dermatology” Poodles' hair changes aren't always linked to calcium, and special staining is needed to detect true calcium deposits.
September 2016 in “Journal of Dermatological Science” Björnstad syndrome causes twisted hair from birth.
22 citations
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November 2008 in “The journal of investigative dermatology/Journal of investigative dermatology” Cystatin M/E helps in the final stages of hair and nail formation by controlling certain enzymes.
September 2016 in “Journal of The American Academy of Dermatology” The girl has a genetic hair condition causing thin hair since childhood.
12 citations
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April 2004 in “PubMed” A rare skin condition in a baby showed unusual fat and hair follicle changes.
31 citations
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April 2004 in “Journal of Investigative Dermatology” A new mouse gene, Keratin 17n, is mainly found in nail tissue and may explain why mice without Keratin 17 don't have nail issues.
17 citations
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January 2013 in “Journal of Cutaneous Pathology” The onychodermis helps anchor the nail bed and may aid in nail formation.
11 citations
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February 2011 in “The Journal of Dermatology” Mutations in the hairless gene cause a rare form of permanent hair loss.
179 citations
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December 1989 in “Medical Entomology and Zoology” Effective management of ichthyoses requires genetic counseling and appropriate treatments.
April 2025 in “Dermatology Practical & Conceptual” UV-enhanced trichoscopy helps diagnose hair shaft disorders like pili annulati.
January 2022 in “Clinical dermatology review” A girl with a rare skin condition called Keratosis Follicularis Spinulosa Decalvans showed no significant improvement with treatment.