Darier disease: A rare genodermatosis

Hema Suryawanshi, Akshay Dhobley, Aparna Sharma, Pramod Kumar

Journal of Oral and Maxillofacial Pathology 2017 21(2):321-321

Darier disease (DD), also known as keratosis follicularis or dyskeratosis follicularis, is a rare autosomal dominant genodermatosis with high penetrance and variable expressivity. It is caused by mutations of ATP2A2 gene which encodes the sarco/endoplasmic reticulum Ca2+ ATPase isoform 2. It is clinically manifested by hyperkeratotic papules primarily affecting seborrheic areas on the head, neck and thorax, with less frequent involvement of the oral mucosa. When oral manifestations are present, they primarily affect the palatal and alveolar mucosa, are usually asymptomatic and are discovered in routine dental examination. Histologically, the lesions show suprabasal clefts with acantholytic and dyskeratotic cells. We present a case of 35-year-old female patient with typical clinical and histological features of DD.

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