ONLINE CASE REPORT

Ann R Coll Surg Engl 2021; 103: e85–e87

doi 10.1308/rcsann.2020.7080

Locally advanced tongue squamous cell carcinoma

in epidermolysis simplex bullosa patient:
a therapeutic conundrum
W Al Shareef, S Sayed, S Kamel, H Alkaf, A Bahaj, R Amin, A Al Herabi

Head and Neck & Skull Base Centre, King Abdullah Medical City, Mecca, Saudi Arabia

ABSTRACT
Epidermolysis bullosa simplex (EBS) is a debilitating condition affecting the skin and mucous membranes that is characterised by frequent ulceration and
blistering on trivial trauma. In EBS, oral cavity mucosal injuries lead to a high propensity for developing squamous cell carcinomas. Locally advanced
tongue carcinoma arising in this background presents a challenging therapeutic conundrum. To our knowledge, this is the first case of aggressive
locally advanced tongue carcinoma that has developed sporadically in a patient with EBS and no family history. Routine screening of oral mucosal
lesions will lead to early detection and timely management of this debilitating condition.

KEYWORDS
Epidermolysis bullosa – Epidermolysis simplex bullosa – Oral cancer – Squamous cell carcinoma
– Tongue cancer
Accepted 20 October 2020
CORRESPONDENCE TO
Suhail Sayed, E: drsuhailsayed@gmail.com

Case history nonsurgical therapeutic options were discussed. The

A 42-year-old man presented to our head and neck
oncology clinic with a history of non-healing tongue
mass. The patient also gave an account of dry, thin skin
that ‘blisters on minimal injury’. There was a history of
surgery for squamous cell carcinoma over the dorsum of
the right hand; wide excision and split-thickness skin
grafting was done. There was no family history of similar
illness nor any consanguinity. Similarly, there was no
history of abuse of tobacco or tobacco-related
substances. Clinical examination revealed multiple
blisters and scarring on the extremities (Figure 1a,b),
extensive, widespread brownish reticulated patches over
the chest and neck (Figure 1c), restricted mouth opening,
oral commissure weakness, ankyloglossia and a 4 × 3cm2
ulceroinfiltrative lesion involving the left middle
one-third oral tongue extending posterior to the tongue
base (Figure 1d). Magnetic resonance imaging (MRI)
revealed a 5 × 4cm2 lesion involving the left half and base
of the tongue, extending along the left lingual
neurovascular bundle and metastatic left, level IIa nodes
(Figure 1e). There was no evidence of distant metastasis
on preliminary evaluation. Tongue biopsy was suggestive
of invasive well differentiated squamous carcinoma and
the skin biopsy on histology (haematoxylin and eosin)
revealed features of epidermolysis bullosa simplex (EBS),
ie subepidermal noninflammatory blister and pale basal
keratinocytes (Figure 2a–d). During the multidisciplinary
tumour board meeting, different surgical and
patient opted for radiotherapy and received 30Gy/15
fractions of intensity modulated radiotherapy; treatment
was discontinued as the patient developed grade III
mucositis and grade IV skin toxicity (Radiation Therapy
Oncology Group classification; ulceration, haemorrhage
and necrosis). Radiation therapy was discontinued in the
wake of the severe toxicity. Subsequently, the patient was
given best supportive care, which included pain
management and nutritional support through a feeding
gastrostomy. The patient died due to disease progression
four months after completing radiotherapy.
Discussion
This was a unique situation in which we needed to treat a
locally advanced stage IVa tongue carcinoma with an
underlying debilitating skin condition, which was
characterised by the development of blisters and
ulcerations in the skin and mucous membranes on
minimal injury.1 The tongue is a mobile tissue, which
makes it more liable to frequent dental trauma and
undifferentiated cellular transformation leading to
squamous cell carcinoma.2 The patient’s condition
warranted a near-total glossectomy with neck dissection
and soft tissue reconstruction (microvascular/pedicle
flap) followed by adjuvant chemoradiation.3 The surgical
option seemed to be the most appropriate first-line
treatment as the tumour was resectable. The major

Ann R Coll Surg Engl 2021; 103: e85–e87 e85

AL SHAREEF SAYED KAMEL ALKAF BAHAJ AMIN AL HERABI
Figure 1 (a–c) Multiple blisters and scarring on the palms and soles with extensive, widespread brownish reticulated patches over the chest and
neck. (d) Oral cavity findings. (e) Magnetic resonance imaging scan T1W with contrast.
questions in front of the tumour board were: (i) morbidity
and quality of life post-surgery, (ii) success of
reconstructive surgery, (iii) feasibility of adjuvant
chemoradiation, and (iv) survival outcomes. Although
guidelines exist in the current literature for managing
cutaneous squamous cell carcinomas in EBS, there is no
robust literature for managing oral cavity cancers arising
in patients with EBS.4 As contemplated, the surgery would
be morbid, and the patient would be dependent on
tracheostomy and gastrostomy feeding, significantly
affecting his quality of life. The chances of surgical wound
dehiscence/breakdown were substantial taking into
consideration the disease characteristics, ie skin fragility
and desquamation. Furthermore, if the patient had
tolerated surgery, the course of adjuvant chemoradiation
would be more challenging, with the literature suggesting
e86 Ann R Coll Surg Engl 2021; 103: e85–e87
LOCALLY ADVANCED TONGUE SQUAMOUS CELL CARCINOMA
severe systemic toxicity due to chemotherapy and
radiation in patients with EBS.5 The current literature
lacks substantial information related to the management
of oral cavity cancers that arise in the background of
EBS.2,3 Although new therapeutics like immunotherapy
and targeted therapy are still being evaluated in this
patient subset, there is a need to design studies specific
for oral mucosal squamous cell carcinomas.6,7
Conclusion
EBS is a debilitating skin condition. It can be challenging to
manage if it presents with mucosal squamous cell
carcinomas. Because of the dearth of literature and no
clear therapeutic protocols, there is a need for active
AL SHAREEF SAYED KAMEL ALKAF BAHAJ AMIN AL HERABI LOCALLY ADVANCED TONGUE SQUAMOUS CELL CARCINOMA

Figure 2 (a–c) Epidermolysis bullosa simplex: A, noninflamed subepidermal blister; B, pallor of basilar keratinocytes (‘eraser effect’) (black arrow).
(d) Tongue biopsy shows irregular infiltrating islands of neoplastic keratinocytes typical of invasive well-differentiated squamous cell carcinoma.

surveillance of this category of patients for early detection
of any suspicious lesions of the oral mucosa. This will be
worthwhile in improving therapeutic outcomes and
quality of life in this patient subset.
References
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