January 2020 in “Przegla̧d dermatologiczny” A 5-year-old boy was diagnosed with congenital triangular alopecia, a type of hair loss without skin changes, usually starting between ages 2-5, with no specific treatment.
This rare genetic disorder causes permanent hair loss and skin bumps from birth.
2 citations
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August 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” A specific mutation in the K25 gene causes a rare genetic disorder with curly hair at birth and later hair loss, along with dental issues.
A genetic mutation in the CDH3 gene causes hair loss and vision problems in a young Saudi girl.
January 2025 in “Surgical & Cosmetic Dermatology” Forehead reduction surgery can fix forehead defects and improve appearance.
5 citations
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October 2018 in “Dermatologic therapy” Recognizing congenital triangular alopecia is crucial to avoid unnecessary treatments.
5 citations
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May 2021 in “BMC surgery” A man's unusual scalp folds caused by a skin condition were treated with surgery and remained unchanged two years later.
January 2017 in “International journal of surgery and transplantation research” The Covas-Lift is a safe and effective facial rejuvenation method with shorter surgery time and high patient satisfaction.
May 2024 in “Animal genetics” A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
2 citations
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June 2012 in “American Journal of Dermatopathology” A rare neck cyst in a 47-year-old man showed diverse skin cell types and was not linked to HPV.
23 citations
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December 2008 in “Pediatric neurology” The document adds two cases of Gomez-Lopez-Hernandez syndrome and suggests including trigeminal anesthesia and scalp alopecia as key diagnostic criteria.
3 citations
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May 2024 in “BMC Medical Genomics” A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
January 2016 in “Türkiye klinikleri tıp bilimleri dergisi” About 38% of patients at a dermatology clinic had oral lesions, with coated tongue, fissured tongue, and Fordyce granules being most common.
22 citations
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January 1999 in “Dermatology” The condition might be caused by genetic changes after birth.
22 citations
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April 2012 in “The American journal of pathology” Loss of Msx2 function causes eye development issues similar to Peters anomaly.
22 citations
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May 2007 in “Molecular Biotechnology” September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.
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.
September 2018 in “Dermatologic Surgery” 44 citations
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January 1999 in “Dermatology” Nevus comedonicus is a rare skin condition with grouped open pores, sometimes linked to other body issues.
August 2020 in “International Journal of Research in Dermatology” Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.
16 citations
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March 2011 in “Ophthalmic genetics” A patient with Birt-Hogg-Dubé Syndrome also had choroidal melanoma, suggesting the need for careful eyelid exams in such patients.
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.
9 citations
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January 1975 in “Munich Personal RePEc Archive (Ludwig Maximilian University of Munich)” Rothmund-Thomson syndrome causes skin changes, hair loss, and slightly high lysine and cystine in urine.
13 citations
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April 2010 in “Journal of dermatological science” Chemotherapy-induced hair loss is partly due to decreased laminin-511 and increased laminin-332.
3 citations
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February 2025 in “Journal of Investigative Dermatology” Lipocartilage is a new type of tissue that affects hair growth and cartilage regeneration.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
February 2022 in “Obstetrics and gynaecology cases - reviews” PCOS can cause unusual symptoms like late puberty and enlarged clitoris, making diagnosis difficult.
November 1998 in “Hair transplant forum international” The document's conclusion cannot be provided because the content is not accessible.
November 2025 in “Journal of Investigative Dermatology” A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.