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Case Reports

Abstract

Papular acantholytic dyskeratosis (PAD) is a rare skin disorder that is thought to be a subtype of focal acantholytic dyskeratosis which is localized exclusively to genitocrural region. Only a handful of cases have been reported in the literature, and its etiology is still unclear.

We present a case of a 43-year-old female who visited the gynecology clinic with a 5mm asymptomatic papule on her left labia. No other lesions were noted on her body. Her family history was noncontributory. A punch biopsy of the lesion was performed that revealed acanthosis, compact orthokeratosis, intact granular layer, extensive spinous layer acantholysis, and suprabasilar clefting. No fungal organisms were identified on the GMS stain, and immunostains for HSV 1&2 and VZV were negative. The genital location of the lesion in conjunction with the histological findings of the punch biopsy led to the diagnosis of PAD.

PAD shares similar histopathologic findings with Hailey-Hailey disease (HHD) and Darier disease. Recent literature describes a mutation in APT2C1 that is also seen in HHD, suggesting a relationship between PAD and HHD. Despite the similarities, the late age of onset, lack of inheritance, and the confined genitocrural location differentiate PAD from these other autosomal dominant disorders. Clinically, PAD is characterized by skin-colored to whitish papules that are localized on the genitocrural area. The benign course of the lesions and the variety of clinical appearances may mislead physicians away from the diagnosis of PAD, but it is crucial to acknowledge the existence of this entity to minimize diagnostic errors.