36 citations
,
March 2014 in “Cell death and differentiation” Disrupting β-catenin signaling in certain cells causes anorectal malformations.
March 2026 in “Journal of Community Genetics” Stigma against people with albinism in Africa harms their health, education, and safety, and needs to be addressed with awareness and better healthcare.
September 2022 in “IP Indian journal of clinical and experimental dermatology” An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.
April 2020 in “Journal of the Endocrine Society” The patient with a misplaced pituitary gland and interrupted pituitary stalk is being treated with hormone replacement.
13 citations
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January 2018 in “Yonsei Medical Journal” A specific gene mutation causes Olmsted syndrome.
July 2025 in “Dermatology Reports” Dermatologists should recognize diverse discoid lupus signs to avoid misdiagnosis.
July 2022 in “Indian Journal of Otology” A rare ear-area hair cyst was successfully removed from a 10-year-old boy.
January 2023 in “Al-Azhar International Medical Journal /Al-Azhar International Medical Journal” Treating eye issues can help manage alopecia areata better.
2 citations
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May 2007 in “Pediatrics in Review” Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
28 citations
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August 2015 in “Journal of functional biomaterials” Cell-based therapies show promise for treating Limbal Stem Cell Deficiency but need more research.
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.
November 2024 in “JAAD Case Reports” A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
3 citations
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May 2013 in “Pediatric Dermatology” A newborn girl had a rare case of salivary gland tissue on her chest, which was safely removed.
47 citations
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November 1966 in “Archives of Dermatology” Trichorrhexis nodosa is mainly caused by hair trauma, not a metabolic defect.
56 citations
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January 2014 in “Journal of Investigative Dermatology” Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
January 2024 in “Skin Appendage Disorders” July 2024 in “LA CIENCIA AL SERVICIO DE LA SALUD Y NUTRICIÓN” The condition is harmless, doesn't worsen, and needs no invasive treatment.
14 citations
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March 2007 in “Pediatric pulmonology” Inhaled steroids in children may cause excessive hair growth and not always go away after stopping the medication.
June 2025 in “Journal of Face Aesthetics” Accurate diagnosis of facial blistering diseases is crucial for effective treatment.
2 citations
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January 2018 in “International Journal of Trichology” Two sisters had a rare hair condition without other usual symptoms.
More research is needed to confirm the long-term effects of oral drugs for chronic central serous chorioretinopathy.
7 citations
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June 1978 in “Archives of Dermatology” Hair loss was likely caused by gymnastics activities on a balance beam.
March 2022 in “Ophthalmology Journal” A woman's rare benign eyelid tumor was correctly identified through detailed tissue analysis.
1 citations
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May 1999 in “Journal of Oral and Maxillofacial Surgery” Patients with mandible reconstruction had better quality of life and function than those with soft-tissue reconstruction.
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.
September 2023 in “Bangladesh Journal of Neurosurgery” Stereotactic Radiosurgery is an effective non-invasive treatment for cerebral AVM, with successful outcomes and minimal side effects.
20 citations
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January 2014 in “International Journal of Oral and Maxillofacial Surgery” Using superficial temporal fascia helps prevent Frey syndrome after parotid surgery.
3 citations
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April 2016 in “Dermatologic Surgery” A man's forehead and eyebrow were successfully reconstructed with a skin and hair graft that matched his other eyebrow, without needing frequent trimming.
1 citations
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June 2017 in “Veterinary dermatology” A cross-bred lamb with severe skin and movement issues had ichthyosis fetalis but normal vitamin A levels.
April 2017 in “Journal of Investigative Dermatology” Targeted siRNA therapy may be a promising treatment for KID syndrome by reducing mutant gene expression and improving cell communication.