Study reviews skin cancers among EB patients

Findings show high recurrence, mortality of squamous cell carcinoma

Steve Bryson, PhD avatar

by Steve Bryson, PhD |

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Squamous cell carcinoma (SCC), a form of skin cancer, was the most reported cancer among people with epidermolysis bullosa (EB), with a high rate of recurrence and mortality compared with the general population, according to a review of 87 studies.

Other skin cancers, including malignant melanoma and basal cell carcinoma, also were reported in EB patients.

Despite the high mortality rate, about half of EB patients reached remission with treatment, which included the surgical removal of tissue, amputations, chemotherapy, and radiation.

Because of the high rate of recurrence or new tumors, the researchers suggested that continuous surveillance of EB patients following cancer treatment is needed.

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The review study, “Characteristics and Outcomes of Squamous Cell Carcinoma and Other Cutaneous Malignancies in Epidermolysis Bullosa: A Systematic Review,” was published in the journal Advances in Skin & Wound Care.

EB is a group of disorders marked by easily damaged skin and painful wounds. SCC, a type of cancer affecting the middle and outer layers of the skin, is a known complication of EB. Because these tumors grow more aggressively, SCC is difficult to manage and is more lethal in EB.

Researchers from Canada conducted a systematic review of all SCC cases and other skin cancers associated with EB in the medical literature. Their goal was to offer insight of available treatment options and possible outcomes.

The team selected 87 eligible studies, published from 1969 to 2021, that examined 367 people ages 6-89 years who were diagnosed with inherited EB and any skin cancer. Among publications that reported sex, roughly half of the patients were women, and for those who reported ethnicity, 88.8% were white, 8.8% were Asian, and 2.5% were Hispanic.

Dystrophic EB (DEB) was the most common type of EB, occurring in 78.8% of participants, followed by EB simplex (EBS) in 14%, junctional EB (JEB) in 5.5%, and Kindler syndrome in 1.6%.

Several types of skin cancers

SCC was the most prominent type of skin cancer identified in 316 cases, affecting 293 (94.3%) individuals across all EB types. The other skin cancers included malignant melanoma in 17 (5.4%), followed by basal cell carcinoma in seven (2.2%), then one case each of keratoacanthoma and angiosarcoma (0.3%).

Across all studies that reported final outcomes, 47.6% of patients were in remission, and 15.1% were living with cancer. Mortality across all EB types with SSC was 41.8%, with a median survival of five years.

The researchers noted that survival of SSC among the general population has been reported at 2.8%, with up to 10 years of follow-up.

Most cases of SSC were in those with recessive DEB (71%). Mortality also was highest among patients with this disease type (44.1%). EBS patients had the lowest proportion of SCCs and the highest proportion of malignant melanoma skin cancers. More than half of SCC tumors were found on the legs (31.9%) and arms (27.6%).

Evidence of cancer spreading (metastases) at diagnosis was found in 14 of 77 patients tested (18.2%), whose median survival time was significantly shorter than those without metastasis (1.4 vs. 6 years).

As first-line treatment, the removal of tissue (excisions) was performed in 110 patients (71.9% overall), of whom 55 reached remission, 14 were living with cancer, and 26 had died. Here, the median survival time was six years.

Amputations were carried out in 23 patients (17.6% overall), of whom 14 achieved remission, one was alive with disease, and eight died. The median survival time among this group was five years.

Seven patients received chemotherapy (4.6% overall) for SCC, with six in remission and one living with cancer. Radiation was the first-line treatment in six SCC patients (3.9% overall). In the five reported cases, two were in remission, one was alive with disease, and two had died. The median survival with chemotherapy/radiation was three years.

No significant difference in the median survival time was noted regardless of initial excision, amputation, and all other treatment regimens combined.

Among the patients with malignant melanoma, 16 of 17 reached remission, and one died. Two of the seven patients with basal cell carcinoma achieved remission, with no further outcomes reported. Also, each patient with either keratoacanthoma or angiosarcoma died.

Recurrence or new tumors occurred in 87 of 224 (38.8%) cases reported, with a median time to recurrence or development of new primary lesions of 16 months, “suggesting the need for continuous surveillance for new lesions and metastases,” the team noted.

“This systematic review summarized cases of SCC and other cutaneous malignancies arising in patients with EB,” the researchers wrote. “SCC was the most reported malignancy with a high recurrence rate and mortality compared to SCC in the general population.”