September 2016 in “Journal of Dermatological Science” Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
September 2022 in “IP Indian journal of clinical and experimental dermatology” This case report describes an 8-year-old girl with atrichia congenita characterized by complete hair loss and papular lesions, attributed to an insertion mutation in the hairless gene.
1 citations
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January 2012 in “Juntendō Igaku/Juntendo igaku” This study found that a simplified classification based on clinical and morphological features may aid in the diagnosis and initial management of inherited keratinizing disorders, although genetic analysis is essential for definitive diagnosis.
41 citations
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November 2011 in “The Journal of Dermatology” This review identifies genetic mutations associated with congenital hair loss disorders in Japanese populations, particularly highlighting common LIPH gene mutations linked to woolly hair/hypotrichosis, and reports no new clinical results.
109 citations
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September 2011 in “Human molecular genetics online/Human molecular genetics” This review discusses keratin disorders and potential RNA interference therapeutics, reporting no new clinical findings but highlighting the promise of siRNA for future treatments.
