December 2019 in “Saintika Medika” A woman with lupus also developed a severe skin condition linked to a genetic factor.
December 2020 in “Skin appendage disorders” A young man with an unusual type of scarring hair loss suggests a possible new variant of a known scalp condition.
20 citations
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February 2019 in “Genes” The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
January 2026 in “Frontiers in Medicine” A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
June 2019 in “Pediatric Dermatology” Alopecia in patients with epidermolysis bullosa varies in severity and is often caused by skin blistering or trauma.
17 citations
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September 2010 in “Pediatric dermatology” A 15-year-old with KID syndrome developed a rare skin condition called PEHFN.
14 citations
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May 2009 in “Journal of the American Academy of Dermatology” The patient's scalp lesions stabilized with a combination of treatments after initial therapies failed.
5 citations
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January 2021 in “Indian Journal of Pathology and Microbiology” A rare eyelid tumor was successfully diagnosed and removed, highlighting the need for careful examination.
2 citations
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June 2019 in “The Journal of Dermatology” Two cases showed skin abnormalities without bone or neural defects.
13 citations
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December 2010 in “Annales de Dermatologie et de Vénéréologie” The conclusion is that skin, mucous, and eye problems after Stevens-Johnson syndrome and Lyell syndrome significantly affect patients' lives, highlighting the need for comprehensive care and eye check-ups.
December 2013 in “International Journal of Dermatology” The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.
December 2025 in “Clinical Cosmetic and Investigational Dermatology” Early diagnosis and multidisciplinary care, including orthopedic surgery, can prevent long-term disability in IFAP syndrome.
January 2018 in “Journal of Cleft Lip Palate and Craniofacial Anomalies” The FUE technique can effectively restore moustaches in patients with cleft lips and alopecia, with few complications.
12 citations
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April 2013 in “Clinical & experimental ophthalmology” Demodex blepharitis can be mistaken for eyelid cancer, so careful diagnosis is crucial.
June 2023 in “International Journal of Dermatology” 12 citations
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May 2016 in “British Journal of Dermatology” A 6-year-old boy's skin condition improved after stopping a specific treatment and starting new medications.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
12 citations
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February 2017 in “Graefe s Archive for Clinical and Experimental Ophthalmology” Gore-Tex is effective for severe congenital ptosis, with the open approach better for no lid crease and the closed approach better for a preserved crease.
9 citations
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July 2016 in “Genes” Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
3 citations
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April 2011 in “Journal of the American Academy of Dermatology” A 19-year-old man had a rare skin condition on one side of his face that looked like another skin disease.
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.
4 citations
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November 2020 in “Case reports in dermatology” A rare skin condition causes red, dark, bumpy facial lesions.
October 2023 in “Pediatric dermatology” Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
June 2025 in “Veterinary Sciences” Oclacitinib effectively treated a diabetic cat's severe skin issues without raising glucose levels, and surgery fixed eyelid fusion.
July 2025 in “Dermatology Practical & Conceptual” Topical eyedrops may cause eyelash whitening and skin lightening around the eyes.
September 2021 in “Pediatrics in review” A baby with KID syndrome died from infections and organ failure at 18 months old.
9 citations
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October 1995 in “Clinical Dysmorphology” The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.
71 citations
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January 2011 in “Orphanet Journal of Rare Diseases” IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
1 citations
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December 2021 in “Kathmandu University medical journal” Adult earlobe can have a benign cyst that is usually removed by surgery.