Surgical excision for non‐familial hypertrophic Darier's disease

A 22-year-old man was admitted to the hospital with a chief complaint of skin lesions on his hands, feet and anus, which he first noticed 3 years ago while he was serving in the military. The lesions worsened when exposed to sunlight and high temperatures. After discharge from military service, he was diagnosed with condyloma accuminatum at the local clinic and received medical treatment, including an ointment and oral medicine. The anal lesion had been growing, so he visited our hospital. There were no other family members who had similar skin lesions. On physical examination, a papillary lesion with hypertrophy was found at the perianal area and skin pigmentation was found on the face, hands and feet. A biopsy was performed from the skin of perianal lesion; thereby, hypertrophic Darier’s disease was pathologically confirmed (Fig. 1). Then, he received oral administration of isotretinoin, but the anal lesion persisted. A wide excision, including the dermal layer, and reconstruction with a rotational flap were performed (Fig. 2). The perianal papillary lesion was located 2 cm from the anus and its largest diameter was approximately 15 cm. Skin excision included all involved skin lesion with a margin of about 1 cm and was performed deeply enough to remove full skin layer. There was no involvement of anocutaneous junction by the skin lesion, but the suture line was very close to it with only 1 cm distance from the junction. Rotational flap was made with additional skin incision laterally and moved close to the skin defect adjacent to the anus. On the 16th post-operative day, because partial skin necrosis with continuous exudative wound discharge was observed, skin repair and split-thickness skin grafting of the skin defect (size, about 3 cm) were performed. He was discharged from the hospital 22 days after the first operation, without any complications and with normal anal function. Darier’s disease (dyskeratosis follicularis) is a rare autosomal dominant disease characterized by keratotic papules and plaques in the seborrheic areas. It is known to be caused by an ATP2A2 mutation at chromosome 12q. Burge et al. reported in their study that 46 of 163 patients had no familial history of Darier’s disease. Medical treatments with, for example, oral retinoids and topical steroids can be effective, but flexural disease can be resistant to such treatment agents. Surgical management of hypertrophic Darier’s disease, especially when involving the perianal area, should be performed with caution regarding the risk of infectious complications that can potentially affect anal function. References