16 citations
,
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.
7 citations
,
January 2008 in “Indian Journal of Dermatology” Pigmentary mosaicism causes skin color changes and can affect multiple body systems, but has no cure.
23 citations
,
July 2016 in “JAMA Ophthalmology” CDH3-related disease causes worsening eye and hair issues.
10 citations
,
January 2018 in “International journal of trichology” Eruptive vellus hair cysts are rare and often misdiagnosed, requiring biopsy for accurate diagnosis.
February 2026 in “Clinical Cosmetic and Investigational Dermatology” A 7-year-old girl experienced temporary hair loss due to radiation, with signs of possible hair regrowth.
2 citations
,
August 2016 in “Journal of Investigative Dermatology” January 2006 in “Dianzi xianwei xuebao” Netherton syndrome causes specific skin and hair changes that help in early diagnosis.
25 citations
,
June 2009 in “British Journal of Dermatology” Early scar classification in lupus can improve treatment and patient outcomes.
5 citations
,
August 2020 in “Curēus” The document concludes that recent studies help tell apart desmoplastic trichoepitheliomas from other skin tumors, but more research is needed for clear differentiation.
February 2019 in “Dermatologic Surgery” Mohs surgery effectively treats nipple adenoma while preserving the nipple area.
March 2021 in “Der Hautarzt” Neuroendocrine paraneoplastic syndromes often show skin changes, helping early diagnosis and requiring a team approach for best care.
January 2025 in “Dermatology Reports” Early and accurate diagnosis is crucial for managing rare genetic disorders like this localized variant of junctional epidermolysis bullosa.
1 citations
,
March 2019 in “KnE life sciences” HDPCM treatment healed a baby's congenital skin defect caused by varicella infection.
6 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” The document concludes that careful diagnosis is crucial for chromosome 13q deletion syndrome, tamoxifen can cause reversible eye damage, finasteride may be linked to cataracts, and OCT is useful for diagnosing macular diseases.
Recognizing bamboo hair helps diagnose Netherton’s syndrome.
76 citations
,
March 2008 in “Journal of the American Academy of Dermatology” Videodermoscopy can help diagnose and monitor nail bed psoriasis.
4 citations
,
September 2013 in “Journal of Plastic Surgery and Hand Surgery” A girl with a rare syndrome had successful hair loss treatment with no relapse after 4 years.
39 citations
,
September 2018 in “American Journal of Medical Genetics Part A” A new genetic mutation in the ODC1 gene causes developmental delay and other symptoms in a young girl.
7 citations
,
November 2011 in “Skin Research and Technology” The study found a specific pattern of uneven melanin distribution on balding scalps that could help understand skin diseases caused by light exposure.
13 citations
,
February 2012 in “International Journal of Dermatology” A new genetic mutation in the CDH3 gene causes hair loss and eye problems in young people.
September 2025 in “OBM Genetics” Early diagnosis and comprehensive management improve life quality for Netherton syndrome patients.
53 citations
,
September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics” Mutations in keratin genes cause cell fragility and various skin disorders.
24 citations
,
July 2014 in “Journal of Investigative Dermatology” Nagashima-type palmoplantar keratosis in Asians is caused by a SERPINB7 gene mutation.
January 1990 in “대한피부과학회지” Peanut agglutinin staining helps differentiate malignant melanoma from nevocellular nevus.
7 citations
,
April 2004 in “International Journal of Dermatology” The newborn's skin blistering is due to a genetic condition called epidermolytic hyperkeratosis.
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Deleting the CD271 gene in mouse skin cells leads to disorganized skin and increased hair growth, suggesting CD271 is important for skin health.
1 citations
,
November 2023 in “Curēus” Early diagnosis and treatment of nail and skin conditions can improve health and appearance.
28 citations
,
June 1995 in “The Journal of Dermatology” The flaky skin mouse mutation is a natural model for studying human psoriasis.
February 2023 in “JAAD case reports” Reducing immunosuppression and using antiviral creams improved the woman's skin condition.