20 citations
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February 2004 in “Clinical and Experimental Ophthalmology” Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.
2 citations
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March 2016 in “International Journal of Dermatology” Kikuchi–Fujimoto disease can cause scarring alopecia and should be considered in diagnosis.
August 2022 in “Brain and Development” A nine-year-old girl with muscle weakness and total hair loss improved with specific treatments.
6 citations
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November 2022 in “Journal of autoimmunity” JAK inhibitors like tofacitinib may effectively treat Alopecia Areata.
March 2023 in “PARIPEX INDIAN JOURNAL OF RESEARCH” Tofacitinib helped regrow hair in most patients with severe hair loss.
9 citations
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February 2018 in “The Journal of Dermatology” A new mutation in the LIPH gene was found to cause a rare hair disorder in a Japanese boy.
2 citations
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January 2017 in “Przegla̧d dermatologiczny” Two trichoscopic patterns found in hair loss: diffuse fibrotic and androgenetic alopecia, affecting treatment choice and regrowth chances.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
A rare skin condition in a 17-year-old was diagnosed late, stressing the need for careful evaluation and genetic testing.
September 2021 in “Revista Interdisciplinar em Saúde” Oral isotretinoína effectively stabilizes frontal fibrosing alopecia.
This rare genetic disorder causes permanent hair loss and skin bumps from birth.
39 citations
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January 2019 in “Journal of the American Academy of Dermatology” Tofacitinib may help treat severe childhood alopecia areata, but risks require careful consideration.
1 citations
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January 2020 in “Skin appendage disorders” A family was found with both Trichorhinophalangeal syndrome and Loose Anagen Syndrome, suggesting a genetic connection.
1 citations
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March 2000 in “PubMed” A 16-year-old boy's alopecia areata progressed unusually to resemble male pattern baldness.
1 citations
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July 2016 in “British Journal of Dermatology” Men with a certain type of hair loss often use facial moisturizers, and a specific antibiotic treatment may help another hair condition.
1 citations
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January 2018 in “Indian dermatology online journal” Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
15 citations
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June 2019 in “Biochemical Journal” A new genetic disorder caused by an ODC1 mutation can be treated with DFMO.
February 2026 in “Clinical Cosmetic and Investigational Dermatology” Inverted Follicular Keratosis is rare but should be considered in scalp lesion diagnoses for all ages.
July 2022 in “Research Square (Research Square)” Lower PPARγ levels and specific gene variations are linked to more severe Frontal Fibrosing Alopecia.
28 citations
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June 1995 in “The Journal of Dermatology” The flaky skin mouse mutation is a natural model for studying human psoriasis.
1 citations
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May 2022 in “International journal of molecular sciences” Faulty LEF1 activation causes faster skin cell differentiation in premature aging syndrome.
September 2025 in “Cureus” Early recognition and multidisciplinary management are crucial for improving outcomes in Parry-Romberg syndrome.
January 2012 in “Yearbook of Dermatology and Dermatologic Surgery” Studying acne-related syndromes helps us understand acne causes and can lead to new treatments.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
January 2018 in “Haydarpaşa Numune Hastanesi tıp dergisi” Tamsulosin's sulfonamide group may contribute to floppy iris syndrome.
23 citations
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July 2003 in “Journal of Investigative Dermatology” Genetic testing for hairless gene mutations is crucial to correctly diagnose and treat atrichia with papular lesions.
4 citations
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May 1994 in “Neurology” The boy had a unique condition with seizures, uneven hair loss, and an enlarged brain hemisphere.
33 citations
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September 2014 in “Reproductive Biology and Endocrinology” High afamin levels are linked to metabolic syndrome and may predict its development in women with insulin resistance.
5 citations
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December 2014 in “Molecular cytogenetics” A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
72 citations
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November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.