LB106 - NUTRITIONAL MANAGEMENT IN ADVANCED CUTANEOUS SCC ASSOCIATED WITH DYSTROPHIC EPIDERMOLYSIS BULLOSA: A CASE FOR MULTIDISCIPLINARY CARE

LB106

NUTRITIONAL MANAGEMENT IN ADVANCED CUTANEOUS SCC ASSOCIATED WITH DYSTROPHIC EPIDERMOLYSIS BULLOSA: A CASE FOR MULTIDISCIPLINARY CARE

M. Nikiforov^1,*, A. Pleshkov², V. Kornev³ on behalf of Multidisciplinary EB Working Group

¹Department of Physical and Rehabilitation Medicine, ²Burns department, ³ICU Department, Nikiforov Russian Centre of Emergency and Radiation Medicine of EMERCOM of Russia, St. Petersburg, Russian Federation

Rationale: Epidermolysis bullosa (EB) is a rare genetic disorder causing skin/mucosal blistering after minor trauma. Recessive dystrophic EB (RDEB) presents severe complications: universal scarring (100%), esophageal strictures (50-80%), microstomia, and limb deformities [1]. Crucially, RDEB carries an 80% risk of cutaneous squamous cell carcinoma (сSCC) by age 40 [2]. This case demonstrates how ESPEN-aligned nutritional intervention can optimize metabolic support and quality of life in EB.

Methods: We present a 36-year-old female with severe generalized RDEB and metastatic сSCC.

Results: The patient initially presented in 2017 with сSCC lesions on the right foot and left leg. Over the subsequent year, she experienced progressive weight loss of 10 kg (≈20% body weight), culminating in severe protein-energy malnutrition (BMI 13.8 kg/m²) accompanied by refractory anemia and recurrent dysphagia. Metabolic assessment revealed elevated nutritional requirements with an activity-related energy expenditure of 2150 kcal/day and protein needs of 2 g/kg/day, necessitating aggressive nutritional intervention. Initial oral feeding attempts proved unsuccessful due to esophageal stenosis, with endoscopic balloon dilatations providing only transient symptomatic relief. The concurrent oncological process mandated establishment of long-term venous access via a totally implanted port, which subsequently facilitated combined multi-chamber bag parenteral nutrition (PN) - SmofKabiven® and hypercaloric enteral nutrition (EN). Following immunohistochemical confirmation, anti-EGFR therapy (cetuximab) was initiated alongside nutritional optimization. Initial enteral supplementation achieved only 50% of calculated requirements, with subsequent development of grade III dermal toxicity after the second cetuximab administration precipitating wound deterioration and exacerbated dysphagia. This complication prompted escalation to combined PN and EN support. A subsequent Clostridium-difficile colitis, likely secondary to antibiotic therapy for infected wounds, necessitated intestinal decontamination and transition to semi-elemental enteral formula via gastrostomy while maintaining PN. This nutritional strategy demonstrated measurable benefits in reducing cutaneous toxicity, improving biochemical nutritional markers, and stabilizing gastrointestinal trophic function. Despite initial therapeutic tolerance, disease progression led to complete oral feeding intolerance, requiring gastrostomy placement with retrograde dilatation protocol. Preprocedural optimization with total PN was implemented over seven days. Three years post-initial сSCC diagnosis, the patient underwent radical surgical intervention (thigh amputation with inguinal lymph node dissection), with perioperative metabolic support through combined EN and PN contributing to an uncomplicated postoperative recovery. 

Conclusion: This case of severe generalized RDEB with metastatic сSCC highlights the indispensable role of comprehensive nutritional support in enabling complex oncologic interventions. The patient's clinical course demonstrated that neither anti-EGFR therapy nor radical limb amputation would have been feasible without meticulous nutritional management tailored to the unique challenges of RDEB. The successful approach required three key elements: early initiation of combined multi-chamber bag PN to correct life-threatening malnutrition (BMI 13.8), adaptive switching between enteral formulations to address treatment complications, and synergistic use of combined EN/PN during surgical stress. The case establishes that RDEB-сSCC patients represent a distinct nutritional phenotype where conventional ESPEN criteria may underestimate needs, and proposes that perioperative nutrition in this population should be viewed not as supportive care but as definitive treatment enabling therapeutic interventions. These findings advocate for developing specific nutritional protocols for EB patients undergoing cancer therapy, emphasizing metabolic stabilization as a prerequisite rather than adjunct to treatment.

References: 1. Fine J.D., Bruckner-Tuderman L., Eady R.A.J., et al. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J Am Acad Dermatol. 2014; 70(6):1103-1126. doi: 1016/j.jaad.2014.01.903

2. Montaudié H., Chiaverini C., Sbidian E., et al. Inherited epidermolysis bullosa and squamous cell carcinoma: a systematic review of 117 cases. Orphanet J Rare Dis. 2016; 11(1):117. doi:10.1186/s13023-016-0489-9

Disclosure of Interest: M. Nikiforov Other: The publication charges were funded by Fresenius Kabi. The sponsor had no role in study design, data collection, analysis, or interpretation., A. Pleshkov: None declared, V. Kornev: None declared