Management of Cutaneous Squamous Cell Carcinoma in Patients With Epidermolysis Bullosa

Best Clinical Practice Guidelines

J.E. Mellerio; S.J. Robertson; C. Bernardis; A. Diem; J.D. Fine; R. George; D. Goldberg; G.B. Halmos; M. Harries; M.F. Jonkman; A. Lucky; A.E. Martinez; E. Maubec; S. Morris; D.F. Murrell; F. Palisson; E.I. Pillay; A. Robson; J.C. Salas-Alanis; J.A. McGrath

Disclosures

The British Journal of Dermatology. 2016;174(1):56-67. 

In This Article

Abstract and Introduction

Abstract

This 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.

Introduction

Some forms of epidermolysis bullosa (EB) are associated with the development of cutaneous or, more rarely, mucosal squamous cell carcinoma (SCC). Unlike cutaneous SCCs occurring in the general population where chronic ultraviolet exposure predisposes to the development of tumours on sun-exposed sites, EB-associated SCCs tend to arise at sites of chronic skin blistering, wounds and scarring. In addition, multiple primary SCCs often occur, tumours generally behave more aggressively than conventional SCCs, and they carry a very significant morbidity and mortality for those affected. EB cancers are the leading cause of death in patients with recessive dystrophic EB (RDEB), particularly the severe generalized form (RDEB-SG).

The cumulative risk of developing SCC in EB increases with age: for patients with RDEB-SG, the cumulative risk of having at least one SCC is 7·5% at age 20 years, 67·8% at 35 years and 90·1% by 55 years.[1] This increased risk is paralleled by an increased cumulative risk of death from SCC in this type of EB: 38·7% by age 35 years, 70·0% by 45 years and 78·7% by 55 years. These deaths occur despite aggressive tumour resection. The risks for patients with other forms of EB prone to SCC are lower, with tumours occurring later in life and tending to be less aggressive. It is also important to acknowledge that many EB subtypes, especially EB simplex, are not associated with an increased SCC risk.[1]

Clinical detection of SCCs in patients with EB on a background of chronic ulceration may be particularly challenging, and therefore the possibility of malignancy should be borne in mind, with suspicious lesions biopsied for histological evaluation. Hitherto, there have been many case reports in the literature describing EB SCCs and a variety of approaches towards investigation, monitoring and treatment. However, given the rarity of EB and the occurrence of cancer in a subset of patients only, there has been no prospective work or trials looking at how these tumours should best be managed.

DEBRA International is a worldwide network of national groups working on behalf of those affected by EB. In order to improve the diagnosis and management of SCCs arising in people with EB, they commissioned these guidelines, which have been drawn up from a systematic review of the available literature and guided by expert consensus. They are divided into sections on monitoring and surveillance for EB cancers, diagnosis, and surgical and nonsurgical treatments. Sections on putative preventative measures and palliative care have also been included.

Aim

To provide the user with information on the diagnosis and management of SCCs in people with EB so as to improve patient outcomes and quality of life.

Users

Dermatologists, paediatricians, plastic surgeons, dermatological surgeons, oncologists, dermatopathologists, palliative care physicians, nurses and people living with EB.

Target Group

This guideline is aimed at adolescent and adult patients with forms of EB associated with the development of mucocutaneous SCCs, notably those with RDEB, dominant dystrophic EB, generalized intermediate junctional EB and Kindler syndrome.

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