11 citations
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May 2009 in “Clinical and Experimental Dermatology” This case report describes a 12-year-old girl's persistent and worsening scalp condition, ultimately diagnosed as pityriasis amiantacea secondary to localized Darier's disease, after numerous ineffective treatments.
September 2012 in “Annals of saudi medicine/Annals of Saudi medicine” This case report describes dizygotic twin sisters with congenital ichthyosis, mental retardation, myopathy, and anemia, who may represent a syndrome distinct from previously recognized disorders like Rud syndrome.
February 2018 in “BMJ case reports” This case report describes an 18-year-old woman with a pruritic rash featuring extensive confluent scaly erythema, hyperkeratotic follicular plugging, and waxy keratoderma on palms and soles.
32 citations
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April 2014 in “The journal of investigative dermatology/Journal of investigative dermatology” This study demonstrates that keratin K2 is crucial for proper keratinocyte structure and function in specific mouse skin areas, and its deficiency leads to cellular aggregates and skin abnormalities.
1 citations
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March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.