May 2025 in “The Journal of Rheumatology” Mixed Connective Tissue Disease can develop from overlapping symptoms of several autoimmune diseases, making diagnosis complex.
1 citations
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April 2025 in “Clinical Cosmetic and Investigational Dermatology” A rare skin lesion in a 64-year-old woman was successfully treated with a laser, showing minimal redness and no return after one month.
36 citations
,
March 2014 in “Cell death and differentiation” Disrupting β-catenin signaling in certain cells causes anorectal malformations.
Deleting Smad4 and PTEN genes in mice causes rapid, invasive forestomach cancer.
26 citations
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October 2007 in “American Journal of Dermatopathology” Basal cell carcinoma with matrical differentiation is a rare type linked to hair follicles, with .-catenin important for its development.
5 citations
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May 2014 in “Clinical and Experimental Dermatology” Mutations in the desmoplakin gene can cause hair problems and deadly heart disease.
January 2009 in “Repositório Científico do Instituto Politécnico de Viseu (Instituto Politécnico de Viseu)” The skin lesion was diagnosed as a matrical cyst with unusual features.
April 2018 in “Journal of Investigative Dermatology” The conclusion introduces a new way to classify skin cysts using their shape and genetic markers.
13 citations
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July 2016 in “Indian Journal of Dermatology” DPR can show different hair characteristics, as seen in two brothers with normal hair.
97 citations
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March 2002 in “Molecular and cellular biology” Mutant CDP/Cux protein causes hair defects and reduced male fertility in mice.
15 citations
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September 2002 in “Journal of Biological Chemistry” Abnormal keratin expression in mice causes severe oral issues, affecting feeding.
18 citations
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February 2001 in “Der Hautarzt” A woman with myotonic dystrophy had multiple skin tumors on her scalp, suggesting a genetic link.
115 citations
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October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
June 2025 in “British Journal of Dermatology” Melanocytic matricoma can look like skin cancer but is usually harmless; surgery and follow-up are advised.
2 citations
,
November 2020 in “The American journal of dermatopathology/American journal of dermatopathology” Sweat duct differentiation in trichilemmal cysts is very rare and can be successfully removed with surgery.
112 citations
,
January 2013 in “Experimental dermatology” Faulty Notch signalling may cause hair follicle changes and inflammation in hidradenitis suppurativa.
1 citations
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June 2025 in “Journal of Veterinary Internal Medicine” The donkey had a severe disease affecting multiple organs and was euthanized.
10 citations
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November 2018 in “Genetics in medicine” Lack of cystatin M/E causes thin hair and dry skin.
47 citations
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September 2012 in “Human molecular genetics online/Human molecular genetics” Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
5 citations
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February 2005 in “Journal of the American Academy of Dermatology” Focal palmoplantar callosities may help diagnose non-Herlitz junctional epidermolysis bullosa.
1 citations
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January 2015 in “The Journal of Dermatology” Genetic testing is crucial for diagnosing and managing non-Herlitz junctional epidermolysis bullosa.
January 2007 in “Bristol Research (University of Bristol)” Epidermolysis bullosa in UK calves is not caused by mutations in keratin genes.
47 citations
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January 1998 in “Molecular Carcinogenesis” ErbB2 signaling is crucial for skin cell growth and cancer development in mice.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
69 citations
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May 2002 in “Journal of Investigative Dermatology” Congenital atrichia with papular lesions is often misdiagnosed, and new diagnostic criteria can improve accuracy.
12 citations
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October 2006 Matriptase imbalance contributes to cancer development and spread.
12 citations
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January 2013 in “Indian dermatology online journal” Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
8 citations
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July 1986 in “International Journal of Dermatology” Eruptive vellus hair cysts are harmless skin bumps that may go away on their own.
A patient with Myotonic dystrophy type 1 had multiple tongue hemangiomas and was sensitive to anesthesia.
14 citations
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January 1998 in “Dermatology” Polythelia pilosa is a type of extra breast tissue with hair and should be classified as such.