5 citations
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March 1982 in “Journal of Infection” Misdiagnosed skin infections led to ineffective treatments and serious complications.
9 citations
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June 2011 in “American Journal of Dermatopathology” Molluscum contagiosum can occur in epidermoid cysts, especially with prolonged steroid use.
10 citations
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April 2013 in “Journal of Investigative Dermatology” Epidermolytic ichthyosis can be inherited in a semidominant way with mild symptoms in carriers.
33 citations
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April 2003 in “Oncogene”
8 citations
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September 2016 in “Pediatric dermatology” People with Mucopolysaccharidoses often have skin problems like thick skin and extra hair, and recognizing these can help diagnose and treat the condition early.
17 citations
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May 2022 in “Cells and Development” 12 citations
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July 2015 in “Experimental Dermatology” Gasdermin A3 overexpression in skin causes inflammation and hair loss.
7 citations
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July 1975 in “Acta dermato-venereologica” A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
January 2026 in “Animal Genetics” A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
February 2023 in “Vlaams dierengeneeskundig tijdschrift” Two young cats with a severe ear and skin condition improved with immune system-targeting treatments.
7 citations
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August 2017 in “European journal of endocrinology” Mutations in the POC1A gene can cause a unique form of extreme insulin resistance and short stature.
4 citations
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January 2015 in “Türk Patoloji Dergisi” Hormone imbalances from endocrine diseases can cause various skin conditions that help diagnose and treat these diseases early.
8 citations
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April 2010 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” The first pediatric case of naevus trichilemmocysticus was documented.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Targeted cancer therapies can cause skin side effects, but activating SOS in the skin may help reduce them.
March 2003 in “中華皮膚科醫學雜誌” Trichothiodystrophy causes unusual hair and developmental issues.
2 citations
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February 2009 in “Clinical and Experimental Dermatology” A man had rare skin tumors with bone formation and cholesterol deposits.
80 citations
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June 1997 in “The American Journal of Human Genetics” 99 citations
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March 2013 in “Journal of Investigative Dermatology” Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
October 2025 in “Indian Journal of Paediatric Dermatology” Trichoscopy is a helpful tool for diagnosing Netherton syndrome.
75 citations
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September 1985 in “Archives of dermatology” Two boys had a rare skin condition needing to be differentiated from similar disorders, with unclear inheritance due to few cases.
21 citations
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January 2008 in “Indian Journal of Dermatology Venereology and Leprology” Tricholemmoma is linked to Cowden syndrome and can be benign or malignant.
April 2024 in “Oral Surgery Oral Medicine Oral Pathology and Oral Radiology” The patient was diagnosed with oral lichen sclerosus and needs long-term monitoring.
December 2022 in “Journal of Medical Case Reports” A 20-year-old woman was found to have a rare ovarian tumor causing symptoms like acne and a low-pitched voice, which disappeared after the tumor was removed.
4 citations
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August 2021 in “Pediatrics in review” DSDs are birth conditions causing unusual sex development, managed with personalized care and sometimes surgery, but still lack a standard treatment approach.
4 citations
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November 2024 in “Current Opinion in Genetics & Development”
September 1998 in “Journal of The European Academy of Dermatology and Venereology” Older people often have untreated genital skin diseases due to embarrassment and lack of medical attention, which can lead to discomfort and even cancer risk.
4 citations
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January 2009 in “PubMed” A mutation in the KRT86 gene causes hair fragility in a Turkish family.
60 citations
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March 2006 in “Journal of Medical Genetics” A mutation in the KRTHB5 gene causes hair and nail issues.