6 citations
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June 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
July 2025 in “Journal of Investigative Dermatology”
21 citations
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November 1981 in “Archives of Dermatology” Ashy dermatosis may be linked to atopy and thyroid disease and can be treated with topical steroids.
7 citations
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July 1975 in “Acta dermato-venereologica” A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
1 citations
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January 1986 in “PubMed” The boy's symptoms suggest a possible new medical condition.
61 citations
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February 1982 in “Cell and Tissue Research”
10 citations
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February 2022 in “JMIR Dermatology” People with Down syndrome often have skin issues and need regular check-ups for early treatment.
Skin changes can help predict thyroid diseases.
The woman was diagnosed with lichen sclerosus, a rare skin condition, after initial misdiagnosis and ineffective treatments.
2 citations
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December 2013 in “The Journal of Dermatology” Early genetic testing and new therapies like secukinumab are crucial for managing Netherton syndrome effectively.
12 citations
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June 2011 in “Journal of Dermatological Case Reports” Shaving, erythromycin cream, and clotrimazole powder effectively treated the bad odor and rough hair.
3 citations
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January 2019 in “Journal of Dermatology” The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
185 citations
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December 2010 in “Archives of Biochemistry and Biophysics” Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.
August 2025 in “International Journal of Research in Dermatology” Increasing zinc intake improved skin and hair symptoms in a rare genetic disorder.
January 2022 in “Clinical Cases in Dermatology” A man has a common skin condition called seborrheic dermatitis, treated with special shampoos and sometimes medication.
June 2006 in “Experimental dermatology” The document concludes that while finding animal models for the skin disease Hidradenitis suppurativa is challenging, certain mouse mutations may provide useful insights for research and drug testing.
June 2018 in “Journal of the American Veterinary Medical Association” Three related Persian cats have a rare, likely hereditary skin condition causing hair loss and poor coat quality, with limited treatment options.
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.
September 2024 in “Journal of the American Academy of Dermatology” Early intervention is important for limited systemic sclerosis patients due to higher pain and ulceration risks.
December 2016 in “Journal of evolution of medical and dental sciences” Skin problems are common in thyroid disorders, with dry skin in hypothyroidism and warm, soft skin in hyperthyroidism.
4 citations
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January 2010 in “Journal of Veterinary Medical Science” The analyses helped identify different skin diseases in the two dogs.
December 2025 in “Clinical Case Reports” Netherton syndrome causes skin and hair issues, confirmed by "bamboo hair" under dermoscopy, with no cure but managed with topical treatments.
June 2023 in “Indian Journal of Canine Practice” The cat fully recovered from skin issues after treatment with medication and shampoo.
7 citations
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January 1986 in “Prenatal Diagnosis” Fetal skin biopsy can help diagnose protein-related disorders before birth.
8 citations
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January 2011 in “International journal of trichology” Accurate diagnosis of APL is crucial to avoid unnecessary treatments.
October 2021 in “European Journal of Dermatology” CAL-PDT is safer and more effective for treating actinic keratosis on the scalp.
7 citations
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February 2019 in “Veterinary medicine and science” An American Bully with a genetic skin condition improved significantly with specific topical treatments.
January 2025 in “Frontiers in Pediatrics” Baricitinib significantly improved hair regrowth and skin condition in a 14-year-old with alopecia areata and atopic dermatitis.
September 2025 in “OBM Genetics” Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.