3 citations
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June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
Basaloid follicular hamartoma is a rare, benign skin growth often misdiagnosed.
January 2006 in “Dianzi xianwei xuebao” Netherton syndrome causes specific skin and hair changes that help in early diagnosis.
44 citations
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January 2017 in “Journal of Investigative Dermatology” Mutations in the KLHL24 gene cause skin blistering in epidermolysis bullosa simplex.
2 citations
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September 2021 in “JAAD case reports” A man with a weakened immune system was diagnosed with a rare skin condition called trichodysplasia spinulosa using skin examination techniques.
June 2023 in “British Journal of Dermatology” A person with Werner syndrome was initially thought to just have female pattern hair loss.
April 2023 in “Journal of Investigative Dermatology” The research shows that skin cancer likely originates from hair follicles and that certain cell populations expand to promote skin cancer growth.
419 citations
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March 2005 in “Proceedings of the National Academy of Sciences” Hair-follicle stem cells can become neurons.
February 2025 in “JEADV Clinical Practice” A rare autoimmune disease caused the woman's scalp blisters and hair loss, successfully treated with medication.
13 citations
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February 2004 in “Clinical and Experimental Ophthalmology” A baby boy with 13q deletion syndrome had eye cancer, a woman's vision improved after stopping a breast cancer drug, a man developed cataracts from using Propecia, and a rare skin disorder called Lipoid Proteinosis was discussed. Also, a tool called OCT is useful for diagnosing macular diseases.
November 2025 in “Journal of Skin and Sexually Transmitted Diseases” Trichofolliculoma was found in a person with amniotic band syndrome for the first time.
October 2023 in “European Journal of Dermatology” Combining hair transplantation with PRP is more effective for treating hair loss than hair transplantation alone.
16 citations
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November 2003 in “Journal of the American Academy of Dermatology” Iron therapy cured the boy's hair color issue.
July 2017 in “ORTHOPAEDICS TRAUMATOLOGY and PROSTHETICS” Managing rare genetic diseases like osteogenesis imperfecta and Escobar syndrome is complex and requires both medical and surgical treatments.
35 citations
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April 1998 in “PubMed” Activated erbB-2 in mice skin causes severe skin and hair abnormalities.
51 citations
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January 1997 in “PubMed” GABEB is a less severe skin condition caused by a gene mutation affecting collagen, leading to blisters and other symptoms.
July 2023 in “Media Dermato Venereologica Indonesiana” Accurate diagnosis of RDEB-mitis in older adults is crucial for proper management without immunosuppressants.
January 2025 in “Genetics in Medicine Open” Biotinidase deficiency can mimic neuromyelitis optica and should be considered for accurate diagnosis and treatment.
May 2021 in “IP Indian journal of clinical and experimental dermatology” Dermoscopy is useful for diagnosing various skin conditions, and new patterns for diagnosis are emerging.
July 2017 in “British Journal of Dermatology” The document concludes that scalp conditions have various causes and can present in many different ways.
18 citations
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April 1989 in “Archives of Dermatology” Iron deficiency can cause hair color changes, which can be reversed with iron supplements.
33 citations
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May 2015 in “JAMA Dermatology” Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.
June 2018 in “Dermatologic Surgery” 13 citations
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January 2018 in “Yonsei Medical Journal” A specific gene mutation causes Olmsted syndrome.
November 2022 in “Journal of Investigative Dermatology” Some people with schwannomatosis have a new type of mutation in the LZTR1 gene.
June 2021 in “The Journal of Family Practice” A 69-year-old woman has a fast-growing hand lesion that didn't improve with salicylic acid.
2 citations
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October 2016 in “Nutrition in clinical practice” Vitamin B12 deficiency can cause facial dark spots that go away with treatment.
3 citations
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March 2019 in “American Journal of Dermatopathology” Recognizing rare tumor combinations is crucial for accurate diagnosis and treatment.
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.
27 citations
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June 2017 in “International Journal of Dermatology” The study suggests that acne keloidalis nuchae is linked to conditions like pseudofolliculitis barbae, scalp infections, metabolic syndrome, and is more common in males with an average onset age of 25.4 years.