September 2016 in “Journal of Dermatological Science” Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
73 citations
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March 2009 in “Seminars in Cutaneous Medicine and Surgery” This article reviews various diagnostic tools for hair disorders, describing methods ranging from invasive to noninvasive, but reports no new research findings or clinical results.
26 citations
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January 1993 in “Dermatology” This report describes a new case of isolated trichothiodystrophy with characteristic brittle hair and suggests a simplified classification scheme for understanding sulfur-deficient hair disorders.
15 citations
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August 1991 in “American Journal of Medical Genetics” This study observed that a low-protein, arginine-supplemented diet improved the abnormal hair appearance in untreated patients with argininosuccinic aciduria.
10 citations
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March 1997 in “Pediatric Dermatology” This case report describes a patient with trichothiodystrophy presenting with autism, mental retardation, and seizures, characterized by distinct hair abnormalities under microscopy.