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.
9 citations
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October 1995 in “Clinical Dysmorphology” This study described a Scottish family with hidrotic ectodermal dysplasia featuring variable symptoms such as hypo/oligodontia, thin hair, and heat tolerance, and concluded they exhibited overlapping traits with Clouston syndrome.
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.
6 citations
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January 2015 in “Indian Dermatology Online Journal” This case report describes a unique presentation of porokeratotic eccrine ostial and dermal duct nevus with lesions on the dorsum of the hand and a focal lichenoid infiltrate, differing from typical palm and sole involvement.
