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Aggressive Squamous Cell Carcinoma in Kindler Syndrome

Authors


Robert C. Phelps, MD, Department of Dermatopathology, POBox 1194, One Custave L. Levy Place, New York, NY 10029
E-mail: robert.phelpsmountsinai.org

Abstract

A 57-year-old Hispanic man with a personal and family history of bullae and photosensitivity presented with a fungating, ulcerated squamous cell carcinoma on his left hand (Figure 1). Physical examination showed conjunctival injection, ectropion, symblepharon, urethral stricture, loss of teeth, short stature, and nail dystrophy. There was reticulated erythema, atrophy, hyperpigmentation and hypopigmentation, and telangiectasia of sun-exposed skin of the face, neck, and hands consistent with poikiloderma (Figure 2). In addition, there was foreshortening of the left thumb and sclerodermoid changes of his hands (Figure 3). Radiation therapy was applied to shrink the tumor before a local excision was performed. However, a local recurrence followed and axillary lymph nodes became clinically palpable, necessitating amputation and lymph node dissection. Extensive histologic evaluation of the specimen obtained following left arm amputation and lymph node dissection showed moderate-to-poorly differentiated deeply invasive squamous cell carcinoma. Two of 3 axillary lymph nodes were positive for metastatic carcinoma. A random biopsy of the trunk showed epidermal atrophy, telangiectasia, a perivascular lymphocytic infiltration, and pigment-laden macrophages consistent with poikiloderma. Electron microscopy illustrated extensive reduplication of the basement membrane, with loops, curls, and free extensions of the basal lamina in the superficial dermis; reduced numbers of hemidesmosomes and anchoring fibrils; and a basement membrane focally devoid of basal cells (Figure 4). On the basis of the clinical features and the characteristic basement zone changes, a diagnosis of Kindler syndrome was made.

Figure 1.

Figure 1.

Large vegetating tumor on the palm, necessitating amputation. Biopsy revealed poorly differentiated squamous cell carcinoma invading the bone.

Figure 2.

Figure 2.

Reticulated erythema, atrophy, hyperpigmentation and hypopigmentation, and telangiectasia of the face, neck, and hands (poikiloderma). Atrophy of the epidermis, postinflammatory pigment alteration, and telangiectasia are suggestive of poikiloderma.

Figure 3.

Figure 3.

Tight, shiny, scaly, poikilodermatous skin with erythema, hypopigmentation, and scale, consistent with sclerodermoid changes. Shortfall of the left thumb.

Figure 4.

Figure 4.

Electron microscopy showing reduplication of the basement membrane, reduced numbers of hemidesmosomes, and anchoring filaments (uranyl acetate and lead citrate; original magnification ×58,000).

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