2 citations
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March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” This study strongly suggests that a distinct form of hereditary localized alopecia in a Chinese family is linked to a novel locus on chromosome 2p25.1–2p23.2.
5 citations
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January 2012 in “International journal of trichology” This case report describes the first known instance of congenital atrichia combined with situs inversus and mesocardia in a 2-year-old male.
23 citations
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January 1964 in “Archives of Dermatology” This report describes a child with ulerythema ophryogenes marked by eyebrow hair absence and progressive skin atrophy, whose condition did not improve despite elevated vitamin A levels via injections.
21 citations
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January 2000 in “Fetal Diagnosis and Therapy” This study found that trichothiodystrophy can be diagnosed prenatally in the second trimester using an endoscopically-guided fetal eyebrow biopsy, with sulfur content analysis being the most reliable test.
41 citations
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January 1992 in “Journal of medical genetics” This study described seven male patients and six female carriers of keratosis follicularis spinulosa decalvans, highlighting distinct dermatological and ophthalmic markers including follicular hyperkeratosis and corneal dystrophy.