Dermatology Online Journal

Facial and bilateral acral porokeratosis with nail dystrophy: A case report
Reza Mahmoud Robati MD, Mohammad Rahmati-Roodsari MD, Azin Ayatollahi MD, Somaye Hejazi MD
Dermatology Online Journal 17 (1): 5

Skin Research Center, Shahid Beheshti University of Medical Sciences, Shohadae-Tajrish Hospital, Tehran, Iran. rmrobati@gmail.com

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Abstract

Porokeratosis is a rare disorder of keratinization with unknown etiology. It exhibits both sporadic and autosomal dominant inheritance. The lesions are sharply demarcated, hyperkeratotic, and annular with distinct keratotic edges. The cornoid lamella is the histological hallmark of porokeratosis. Porokeratosis lesions on the face may have a superficial or a destructive nature. To our knowledge there are only a few cases of facial porokeratosis that have been reported. We report a sporadic form of facial and bilateral acral porokeratosis with nail dystrophy.

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Introduction

Porokeratosis is a rare disorder of keratinization that was characterized by Mibelli in 1983. Several clinical variants include Porokeratosis of Mibelli (PM), Disseminated Superficial Actinic Porokeratosis (DSAP), punctate porokeratosis, porokeratosis palmaris et plantaris disseminata, linear porokeratosis, and giant porokeratosis [1, 2, 3, 4].

PM is one of the most common forms of porokeratosis. It can occur on any part of the skin surface. Trunk and extremities are the most frequent sites of involvement [3, 5]. Single or multiple plaques with raised borders and variable degrees of central atrophy may be seen [1]. Facial lesions or bilateral involvement with nail dystrophy are rare. A few cases of facial porokeratosis have been destructive, leading to scarring [5, 6].

Case report

A 30-year-old man presented to our clinic with multiple annular plaques on his face and dorsum of the hands. He had first noticed these lesions four years previously. The first lesion appeared on the dorsal aspect of his right hand, along with nail involvement, and two months later there were multiple annular plaques on both hands and the face. He had no significant personal or family medical history and also no prior history of drug exposure. During these four years, he has used several topical treatments with no remarkable improvement.

Physical examination revealed a 10 x 4 cm annular plaque with no obvious central atrophy on the radial side of the left hand. Dystrophy of the first nail indicates nail matrix involvement (Figure 1).

On the dorsal surface of the right hand at the base of the second and third fingers there was another annular plaque with keratotic border, 2 x 1 cm in diameter (Figure 2). He also had a 4 x 5 cm annular plaque with central atrophy on the right side of his mouth extending from the upper lip to the lower lip (Figure 3).

Figure 1	Figure 2
Figure 1. Annular double-edged plaque on the radial side of the left hand with dystrophy of the first nail Figure 2. Annular plaques with keratotic border on the dorsal surface of the hands

Figure 3
Figure 3. Annular plaque with central atrophy on the right side of the mouth

The histological examination of the specimen reveals a basket weave pattern of orthokeratosis accompanied by a focus of parakeratosis in a cornoid lamella formation (Figure 4). The keratinocytes beneath the parakeratotic column reveal loss of granular layer, disorganized arrangement, pyknotic nuclei, and perinuclear edema (Figure 5). These findings are compatible with the diagnosis of porokeratosis of Mibelli.

Figure 4	Figure 5
Figure 4. Histopathological view: basket weave pattern of orthokeratosis accompanied by a cornoid lamella formation (H&E, x10) Figure 5. Histopathological view: the keratinocytes beneath the parakeratotic column reveal loss of granular layer, disorganized arrangement, pyknotic nuclei, and perinuclear edema (H&E, x40)

We first elected to try topical treatment for our patient. After 2 months of calcipotriol and tretinoin 0.05 percent cream application, there was only partial improvement of the acral lesions (Figure 6). Afterward, we performed cryosurgery with liquid nitrogen and this produced marked improvement, especially on the hands after 2 monthly treatments (Figure 7).

Figure 6	Figure 7
Figure 6. Moderate improvement of lesions on the dorsal surface of the hands two months after topical treatment Figure 7. Marked improvement of lesions on the dorsal surface of the hands after two monthly sessions of cryosurgery

Discussion

Porokeratosis is a disorder of keratinization with the clinical manifestation of annular hyperkeratotic papules or plaques with an elevated thread-like border and centrifugal expansion. Several types of porokeratosis have been recognized. Most cases of porokeratosis are sporadic, but sometimes the condition is inherited as an autosomal dominant disease. Lesions may occur on any part of the skin surface and mucous membranes, but the extremities are the most frequent sites of involvement. Multiple lesions may appear, but they are almost always unilateral and regionally localized [1]. Facial lesions of porokeratosis are rare and to our knowledge there are only a few cases reported to date. Some of them were noted to be destructive and others were superficial non-atrophic lesions [5, 6]. The pathologic hallmark of porokeratosis is a parakeratotic column, cornoid lamella, in the upper area of the invaginated epidermis, which is essential for its diagnosis [1, 7].

Herein, we present a sporadic adult-onset case of porokeratosis with multiple bilateral acral lesions that were not regionally localized.

Moreover, both the patient’s destructive facial lesion and nail involvement were remarkable. On the other hand, our patient is also distinctive because of the age of onset, number of the lesions, and the lesion distribution. Some forms of porokeratosis seem to be premalignant [4, 8]. We examined the biopsy specimen in order to rule out malignancy and found no evidence of malignant cells or atypical cells.

There are several options for porokeratosis treatment such as cryotherapy, topical 5FU, topical retinoids, lasers, shave excision, and dermabrasion; they have all given variable results [1]. A recent paper described successful treatment of a patient with porokeratosis Mibelli with the use of combined aggressive use of both imiquimod and efudex [9]. We used topical tretinoin and calcipotriol with partial improvement after 2 months of application.

Although partial improvement was achieved with tretinoin and calcipotriol (Figure 6), we then had a greater improvement with the use of two treatments of cryotherapy, given one month apart (Figure 7).

In conclusion, we suggest keeping in mind porokeratosis in the differential diagnosis of any annular acral or facial lesions with distinctive, keratotic borders, especially those resistant to topical treatment.

References

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