Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines

Abstract

SummaryThis article summarizes recommendations reached following a systematic literature review and expert consensus on the diagnosis and management of cutaneous squamous cell carcinomas in people with epidermolysis bullosa. The guidelines are intended to help inform decision making by clinicians dealing with this complex complication of a devastating disease.What's already known about this topic?• Some subtypes of epidermolysis bullosa (EB), particularly severe generalized recessive dystrophic EB, are associated with the development of mucocutaneous squamous cell carcinomas (SCCs).• These tumours behave aggressively and are a leading cause of morbidity and mortality in at-risk patients with EB.What does this study add?• These guidelines will assist clinicians in the diagnosis, management and staging of EB-associated cutaneous SCCs based on available evidence and expert consensus.• They highlight the importance of a holistic multidisciplinary approach to the management of EB-associated SCCs, where patient involvement in decision making is paramount.

Epidermólisis bullosa en el Perú: estudio clínico y epidemiológico de pacientes atendidos en un hospital pediátrico de referencia nacional, 1993-2015

“…No se registraron casos de malignidad por carcinoma epidermoide, carcinoma basocelular o melanoma maligno; probablemente porque estas neoplasias se presentan con más frecuencia entre la segunda y tercera década de la vida (8) .…”

“…Incluso, se ha encontrado que algunos tipos de EB están asociados con el desarrollo de carcinoma epidermoide, carcinoma basocelular y melanoma maligno; riesgo que se incrementaría con la edad, sobre todo a partir de la tercera década de vida, por lo que se recomienda un seguimiento cercano para su detección y manejo temprano (8) .…”

Novel and emerging therapies in the treatment of recessive dystrophic epidermolysis bullosa

“…Following a systematic literature review and expert consensus, recommendations have been made on the management of cutaneous SCC in EB (31). Wide local excision is considered the treatment of choice for EBassociated SCCs.…”

“…Wide local excision is considered the treatment of choice for EBassociated SCCs. Imaging with a PET-CT scan evaluates distant disease and should underlying vessels, nerves or tendons be involved, then more radical surgery such as amputation may be more appropriate (31). Under circumstances when there has been local recurrence of disease or regional or distant metastasis, non-surgical treatment such as radiotherapy or chemotherapy may be considered.…”

Epidermolysis Bullosa - Why Does a Multidisciplinary Team Approach Matter?

“…SCC in EB often grows under areas of hyperkeratosis. Best practice guidelines for EB-associated cutaneous SCCs suggest that patients with RDEB need to have a full skin examination every 3-6 months starting from age of 10 and other types of EB starting from age of 20 (13). There should be a low threshold for diagnostic biopsies in the presence of a lesion clinically suspicious for SCC.…”