Squamous Cell Carcinoma Secondary to Recessive Dystrophic Epidermolysis Bullosa: A Report of 4 Patients with 17 Primary Cutaneous Malignancies

Abstract

Four patients with recessive dystrophic epidermolysis bullosa and 17 invasive primary cutaneous squamous cell carcinomas (SCCs) are presented. All skin cancers arose at the site of scarring due to recessive dystrophic epidermolysis bullosa. Three of 17 (18%) primary cutaneous SCCs recurred locally following initial treatment with either surgical excision or wide surgical excision. Patients with recessive dystrophic epidermolysis bullosa are more likely to develop SCCs of the extremities than nonimmunocompromised patients or patients with epidermodysplasia verruciformis. Like patients with epidermodysplasia verruciformis, patients with recessive dystrophic epidermolysis bullosa are likely to suffer from invasive and metastatic SCCs at a much younger age than nonimmunocompromised patients.

Stage III squamous cell carcinoma of the vulva with groin nodes metastasis in a patient with epidermolysis bullosa

“…This occurs mainly in dystrophic epidermolysis bullosa patients, not only because of recurrent blistering and erosions, but also because of their poor nutritional status. Newman et al (1992), reported an 18% local recurrence rate even after wide local excision of primary squamous cancer.…”

“…Squamous cancer in epidermolysis bullosa has a predilection for limbs, bony prominences, and sites where blistering and scarring are most pronounced. Patients with recessive dystrophic epidermolysis bullosa are more likely to develop squamous carcinomas of the extremities than non-immunocompromised patients (Newman et al 1992). They are more likely to suffer from invasive and metastatic squamous cancers at a much younger age than nonimmunocompromised patients.…”

Squamous cell carcinoma complicating recessive dystrophic epidermolysis bullosa-Hallopeau-Siemens: a report of four cases

“…Despite the fact that SCCs in RDEB are usually histologically well differentiated, they often have a poor prognosis because of the high frequency of occurrence, rapid invasiveness, and development of distant metastases 3 . They are also often multiple 4,5 …”

“…3 They are also often multiple. 4,5 The pathogenesis of developing SCCs in patients with RDEB is not well established. RDEB is caused by mutations in the type VII collagen gene ( COL7A1 ) 6 and, in these patients, it has been demonstrated that the NC1 domain of type VII collagen is associated with a high risk for the development of SCC.…”

Dystrophic epidermolysis bullosa complicated by cutaneous squamous cell carcinoma and pulmonary and renal amyloidosis

“…Carcinogenesis represents a major clinical complication for some epidermolysis bullosa patients. [2][3][4] The cumulative risk of squamous cell carcinoma is 39.6% by the age of 30 in RDEB-HS. 1 Skin cancer primarily affects the extremities; the side of the neck site seen in the present patient is quite unusual.…”