Clinical and molecular spectrum of inherited epidermolysis bullosa in a Thai cohort: a 12-year retrospective study

Relevance. Inherited epidermolysis bullosa (EB) is a rare hereditary skin disease characterized by blister formation and the development of disabling deformities. Objective. To study the prevalence of EB among the population of the Russian Federation (RF) in 2024. Materials and Methods. Information on the EB patients was obtained through a written request from the chief freelance specialist in dermatovenereology and cosmetology of the Ministry of Health of the RF, Prof. Potekaev N.N., President of the National Alliance of Dermatovenereologists and Cosmetologists (NADC), to medical organizations of dermatovenereological profile in constituent entities of the RF. Results. Information on EB patients was obtained from 85 constituent RF-entities. 1.088 EB patients aged 0 to 65 years were identified. Simple EB was diagnosed in 56.5% patients, dystrophic EB in 27.3%, lethal EB in 0.4%, undetermined EB in 8.4%, and “other” EB in 7.4% people. The average prevalence of EB in the RF was 7.4 cases per 1 million populations, among children from 0 to 17 years — 21.3 per 1 million children. The provision of disabled people with medications and dressings in the RF averages 82%, with variations across regions from 50 to 100%. Conclusion. The obtained information will form the basis of a registry of patients with epidermolysis bullosa in the Russian Federation, being formed by the NADC. Their monitoring, statistical processing, and analysis will allow assessment of health status, medical and social characteristics of patients, and their provision with necessary medical care.

Chronic wounds represent significant challenges to the healthcare system. Their incidence increases with increase in age, especially in individuals suffering from chronic disorders like diabetes. The process of wound healing consists of a series of coordinated biological events triggered by tissue damage, ultimately leading to the repair and restoration of damaged tissues. Various pharmacological and non-pharmacological interventions are employed for the management of chronic wounds. The clinical application of traditional therapeutic modalities for managing chronic wounds is limited due to the associated adverse effects, like antimicrobial resistance, pressure lesions, ear and nose barotrauma, and convulsions. Recent advancements in stem cell therapy hold promise for the management of chronic wounds. These are the undifferentiated cells of the human body with the capability of self-renewal. These cells migrate to the wounded site and transform into the required type of cell to repair the tissues. The use of autologous stem cells decreases the risk of immune rejection and infections. These cells do not carry the risk of transmitting contagious diseases from the donor. Various types of stem cells have been investigated in the management of chronic wounds using diverse modes. These cells can be administered topically on the wounded site or through various matrices, such as hydrogels, scaffolds, extracellular matrix derivatives, and dermal substitutes. These cells promote the healing process by acting directly or indirectly on various pathogenic targets in chronic wounds. This review aims to explore the potential of stem cells in chronic wound management, including diabetic foot ulcers, burn ulcers, pressure ulcers, inherited epidermolysis bullosa, and venous leg ulcers. This review also highlights the molecular and cellular pathways involved in wound healing discussed in this review. Moreover, various pre-clinical and clinical studies exploring the use of stem cells in chronic wounds are also reviewed. In sum, the current review weighs the limitations associated with traditional therapies and the merits of the potential application of stem cells in chronic wound management.

Inherited Epidermolysis Bullosa (EB) is a group of rare, genetic skin diseases characterized by extreme fragility of the skin and mucous membranes, leading to blistering and wounds in response to minimal trauma or friction. These clinical manifestations significantly reduce health-related quality of life (HRQoL). The objective of this protocol article is to provide information about the methods planned to be used to assess the measurement properties of HRQoL instruments specifically developed for EB patients of all age groups through a systematic review and meta-analysis. The protocol followed the Preferred Reporting Items for Systematic Reviews and Meta-analyses Protocols (PRISMA-P) guideline. The literature search will be conducted in PubMed, Web of Science (WOS) and EMBASE, including terminology that aligns with the four key elements of the COSMIN (COnsensus-based Standards for the selection of health Measurement INstruments) research question (construct, target population, measurement properties and type of PROM), as well as the terminology proposed by COSMIN for measurement properties. Studies that include information on measurement properties (specifically, validity and/or reliability) with a sample of patients with inherited EB will be selected. Both title and abstract screening and full text review, will be conducted by two independent reviewers using the Rayyan tool. In addition, the risk of bias will be assessed using the COSMIN-Risk of Bias checklist. The data from each study and each measurement property will be summarized in accordance with the COSMIN guidelines. The evidence gathered will strive to adjudicate data on measurements properties of HRQoL instruments used in EB patients, and the limitations of the future systematic review will be discussed. Ultimately, results of the future systematic review will help develop more personalized guidelines for the assessment of HRQoL in EB patients of all age groups. The protocol is registered in OSF with registration number vrm87: https://osf.io/vrm87/

Background: Inherited epidermolysis bullosa (EB) includes a group of rare genetic disorders affecting the skin and mucous membranes. These disorders are characterized by extreme fragility and blister formation after minimal or no trauma. Oral and systemic manifestations vary by subtype; the more severe forms often present with extensive intra-oral blistering, scarring, microstomia, vestibular obliteration, ankyloglossia, and—in some cases—oral cancer. This study aims to collect data on oral-health practices and challenges in people with EB to inform preventive strategies and dental care. Methods: An international, structured online questionnaire with 31 items was distributed to individuals with a confirmed diagnosis of EB. The survey explored clinical and oral manifestations, home-care routines (oral hygiene and diet), experiences with dental professionals, and the impact of oral health on quality of life. Results: Eighty-two questionnaires were completed. Dystrophic EB was the most often reported subtype (69.5%). Most respondents (67.1%) experienced recurrent oral blisters and/or erosions. Many reported relying exclusively on soft foods and struggling with mechanical plaque removal because of microstomia and pseudo-syndactyly. Severe oral pain hindered effective brushing in 17% of participants. Hand contractures and microstomia interfered with oral hygiene in 74% and 31% of participants, respectively. Nearly 30% sought dental care only when in pain. Among those who did not attend regular check-ups or hygiene sessions (44.6%), the most cited reason was that dental clinics were inadequately equipped or trained to manage EB. Conclusions: Because dental procedures carry significant risks for patients with EB, preventive care should begin in early childhood. Yet many patients are still insufficiently informed about essential preventive measures and lack access to dental professionals trained in EB management.

Inherited epidermolysis bullosa (EB) is a group of rare and complex genetic disorders characterized by fragility of the skin and mucous membranes. Specifically, the gastrointestinal tract is commonly involved with a range of complications, one of the most disabling being oesophageal strictures (OS). OS manifest with progressive dysphagia, which in turn contributes to malnutrition, chronic anaemia and growth delay, with high impact on the quality of life of patients and their families. DEBRA International has supported the development of clinical practice guidelines (CPGs) for different aspects of EB care. The present CPG aims to provide healthcare professionals and affected individuals and their caregivers with recommendations on diagnostic procedures, preventive measures and treatment of OS. An international multidisciplinary panel comprising clinical experts and patient and public involvement (PPI) representatives developed the CPG, following an international PPI survey and literature review. The GRADE methodology was adopted to define PICO (population, intervention, comparison, outcome) questions, implement a literature appraisal process and prepare recommendations. Three recommendations are focused on OS diagnosis, and seven on preventive nonpharmacological (diet, oral care and therapeutic education) and pharmacological measures (topical corticosteroids) and treatment procedures. Treatment focuses particularly on oesophageal dilatation and how to delay and manage disease relapses. It is expected that this CPG will contribute to improving the quality and equity of care for individuals affected with EB, and will hopefully foster clinical research to increase evidence, in particular on noninvasive OS treatment to prevent complications and delay relapses.

Epidermolysis bullosa (EB) is a rare inherited multisystem disorder. Colchicine is classified as an antigout and an anti-inflammatory drug. Currently, treatment options for EB are limited and focused on symptom management; there are no approved systemic treatments available. Here, we report three patients who were treated with colchicine to ameliorate EB wounds and systemic inflammation.

Introduction. Inherited epidermolysis bullosa comprises a heterogeneous group of genetic disorders characterized by skin fragility, resulting in blisters, erosions, and scaring of the skin and mucous membranes following minimal mechanical trauma. Patients with inherited epidermolysis bullosa are at increased risk of developing aggressive cutaneous squamous cell carcinoma, most commonly arising on the extremities. Case Report. We report a case of a 21-year-old female with inherited epidermolysis bullosa who presented with a progressively enlarging tumor on the right lower leg, appearing as a small crusted lesion. Physical examination revealed a firm, elevated lesion measuring approximately 10 cm in greatest diameter, covered with crusts. The patient had previously undergone two surgical excisions the same site for confirmed cutaneous squamous cell carcinoma. Radiological evaluation demonstrated no evidence of bone invasion, while ultrasonography identified a single enlarged lymph node in the right inguinal region. Partial biopsy of the lesion confirmed cutaneous squamous cell carcinoma, and lymph node biopsy revealed reactive lymphadenitis without metastatic involvement. Considering the presence of typical lesions throughout the body, the patient?s inability to achieve verticalization, limited reconstructive options, and repeated recurrence of aggressive carcinoma, limb amputation was considered the most appropriate therapeutic approach. Conclusion. In patients with inherited epidermolysis bullosa who develop recurrent cutaneous squamous cell carcinoma, particularly after multiple local recurrences and in the absence of feasible reconstructive options, amputation may represent an unavoidable yet life-preserving treatment strategy, even in the setting of localized disease.

Inherited epidermolysis bullosa (EB) comprises a group of genetic disorders characterized by skin fragility and unique oral features. It requires interdisciplinary care from several health professionals, including oral health teams. Modern dentistry encompasses a wide range of therapeutic options performed by specialists from different fields. To guide clinicians caring for patients with different types of EB to seek care from different dental services. Dental treatment needs for patients with EB were identified based on a systematic literature review. A panel of experts was consulted and invited to provide additional information through an open-ended question over 7 months. A Delphi study was applied over two rounds to the resulting pathways design. The threshold of consensus was set a priori at 75%. Patients' representatives revised the final document. The panel (n = 17) agreed on a total of 55 recommendations divided into six groups according to the severity of oral compromise in EB (52 recommendations were agreed on in round 1, and three were agreed on in round 2). Dental care pathways are presented for each type of EB. Specific considerations are discussed according to clinical features, including age of first referral, frequency of follow-up appointments, and list of dental specialties involved in the care of patients with EB.

Background: Inherited epidermolysis bullosa (EB) is a group of genetic disorders with skin fragility and blistering. The use of Cord Blood Platelet Gel (CBPG) in combination with laser photobiomodulation (PBM) leads to a reduction in lesions. The aim of this study is to evaluate clinical and morphometric changes with Optical Coherence Tomography (OCT) during GPC-PBM therapy. Methods: OCT scanning before the first session (T0), with relative measurement of the thicknesses of the epithelium (EP) and lamina propria (LP), and three consecutive sessions (once daily for 3 days) of CBPG and PBM applications were performed. A new OCT scan at the end of the three sessions (T1) and a week after (T2) were performed. All OCT scans were compared with the values of healthy reference tissues of the same site. Results: A statistically confirmed increase in EP thickness and a decrease in LP thickness with a progressive reduction in inflammatory content were highlighted. This case series did not have recurrences in the treated sites, or adverse reactions to therapy. Conclusions: This study shows the advantages of OCT monitoring in evaluating the effects of therapy at an ultrastructural level with a possibility of obtaining objective, precise, and repeatable measurements with an atraumatic device.

Abstract Epidermolysis bullosa (EB) is a group of skin fragility conditions that result from defects in connective tissue proteins. Classification is based on the level of skin cleavage, with four major subtypes (Has C, Bauer JW, Bodemer C et al. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility. Br J Dermatol 2020; 183: 614–27). Skin fragility is a cardinal feature of EB but mucosal involvement is highly variable depending on subtype. There are limited data evaluating ocular mani­festations of EB, associated management and related outcomes. The aim of this study was to assess ocular manifestations among children with EB attending the National EB Clinic and to compare management against current best practices [Chen VM. Eye care for EB patients: strategies to prevent blistering, scarring and vision loss. Lecture at the DEBRA Care Conference, 2018. Available at: https://www.debra.org/eb-care-tips/eye-care (last accessed 19 February 2024)]. This would provide a better understanding of patients’ needs, helping to identify gaps in care and develop strategies to support patients in obtaining care. We carried out a retrospective chart review, correlating patients’ genotype, phenotype, ocular symptoms and management of the same (access to ophthalmology and treatment adherence). Additionally we circulated a postal questionnaire to patients and carers. Records of 69 patients (52% female) aged 10 months to 22 years were reviewed. The average age at diagnosis was 1.7 years. Overall, 51% had EB simplex (EBS), 19% dominant dystrophic EB (DDEB), 17% recessive dystrophic EB (RDEB), 10% junctional EB (JEB) and 3% Kindler syndrome. In total, 38% of all patients had ocular involvement. Those most commonly affected had RDEB (35%) or JEB (23%). Patients with EBS (31%), DDEB (8%) and Kindler syndrome (4%) presented with mild ocular concerns including itch (27%), dryness (42%) or sticky eyes (27%). More severe ocular involvement presented as redness (12%), pain (19%), inability to open the eye (15%), excessive tearing (15%), blepharitis (8%), conjunctival or corneal erosions, ulcerations or scarring (27%), trichiasis (4%), astigmatism (4%), amblyopia (8%) and/or vision loss (35%), necessitating regular ophthalmology review. Only 36% of patients were referred to ophthalmology, either at diagnosis or at onset of symptoms. Of those, 16% attended annually, with follow-up for others generally limited to ‘as required’. Our results highlight gaps in care. Only a small proportion of patients are engaged with ophthalmology services; over 60% have never been formally assessed. Given the variability in the presentation and severity of eye disease, prompt ophthalmology review at the time of diagnosis is vital to manage symptoms and minimize long-term damage. A personalized approach to management is key to ensure that patients’ unique needs are met and outcomes improved.

Background/Objectives: Epidermolysis bullosa (EB) is a hereditary condition characterized by skin and mucosal fragility, with various degrees of severity. This study’s objectives are to obtain updated epidemiological data that will help identify the specific types and subtypes of EB, determine the case distribution in Romania, and establish the incidence and prevalence of the condition. Methods: This population-based observational study included Romanian patients and collected data from 2012 to 2024. The following information was recorded: date of birth, status (deceased or alive), date of death (if applicable/available), sex, county, and city of residence, EB type and subtype if available, diagnosis (clinical and/or immunofluorescence mapping, transmission electron microscopy, genetic molecular analysis), affected genes, inheritance, and affected family members. Results: The study included a total of 152 patients. The point prevalence (the proportion of the population with a condition at a specific point in time) and the incidence of EB in Romania were 6.77 per million population and 24.23 per million live births, respectively. EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB), Kindler EB (KEB), and not otherwise specified EB, as well as EB (NOS), were the main types of the condition identified in 21%, 3%, 63%, 2%, and 11% of the total cases. The point prevalence and incidence for the same time intervals were 1.58 and 5.28 in EBS, 0.10 and 1.76 in JEB, 4.72 and 12.34 in DEB, 0.16 and 0 in KEB, and 0.21 and 4.85 in EB (NOS). Conclusions: The study provides updated epidemiological data for Romania and underlines the necessity for accurate diagnosis, facilitated by access to genetic molecular testing and better reporting systems.

Experience of dupilumab treatment in inherited epidermolysis bullosa: A short series

Background: inherited epidermolysis bullosa is a group of genetic skin disorders caused by mutations in genes encoding structural proteins of epidermis and dermo-epidermal junction. Clinical manifestations are characterized by spontaneous or trauma-induced skin and/or mucosal blistering, and extensive wounds. Cell therapy is considered to be a perspective therapeutic approach in improving wound healing process.
 Aims: to assess safety and efficacy of human skin equivalent in the treatment of inherited epidermolysis bullosa patients
 Materials and methods: 7 patients (5 female and 2 male subjects from the age of 20 to 55) with inherited epidermolysis bullosa with different clinical subtypes were enrolled in the study: 3 patients with intermediate recessive dystrophic epidermolysis bullosa, 2 patients with severe recessive dystrophic epidermolysis bullosa, 1 patient with dominant dystrophic epidermolysis bullosa and 1 patient with junctional epidermolysis bullosa. Transplantation of composite allogeneic living skin equivalent comprising allogeneic keratinocytes and fibroblasts in low concentration (5 mg/ml) embedded within a type I collagen gel matrix was performed. The living skin equivalent was developed at N.K. Koltsov Institute of Developmental Biology. 19 erosions and ulcers with a surface area between 0,4 cm2 and 120 cm2 were evaluated. At day 14 clinical assessment was performed. To assess level of expression immunofluorescence antigen mapping was used.
 Results: at day 14 complete erosion closure was achieved in 10 (53%) erosions. 4 (21%) erosions reduced in size 75%. Size reduction between 25% and 75% was shown in a single (5%) case. No clinical efficacy was demonstrated in 4 (21%) cases. Collagen VII expression increased comparing to baseline level and accompanied clinical improvement.
 Conclusions: the obtained data showed clinical efficacy of topical treatment with living skin equivalent, although no statistically significant difference was seen between living skin equivalent and atraumatic non-adhesive dressings.
 Keywords: inherited epidermolysis bullosa, junctional epidermolysis bullosa, recessive dystrophic epidermolysis bullosa, erosions, healing, topical treatment.

Inherited epidermolysis bullosa includes a spectrum of rare genodermatoses characterized by dysfunction of the skin barrier, high permeability, and therefore high risks of sensitization to the most common allergens.The aim. To assess the prevalence of food allergies and immunological features of allergy to cow’s milk proteins among a large cohort of children with inherited epidermolysis bullosa.Materials and methods. He study was conducted with the participation of a small cohort of children of different age groups suffering from congenital epidermolysis bullosa. Children were necessarily consulted by an allergist and a nutritionist, a detailed anamnesis was collected, specific IgE to milk and its fractions were determined using ImmunoСАР.Results. A total of 173 children with a diagnosis of inherited epidermolysis bullosa were included in the study. Allergy to cow’s milk proteins was detected in 11.1% of children with a simple form of the disease and in 16.8% of children with dystrophic form. In the group of children with dystrophic epidermolysis bullosa, an IgE-mediated form of food allergy with a later onset was characteristic.Conclusion. A high frequency of allergy to cow’s milk proteins in patients with inherited epidermolysis bullosa has been shown. Food allergy can affect the overall picture of the disease, and it must be diagnosed and taken into account in this category of patients, taking into account the immunopathogenesis underlying the disease, as well as the features of the skin and mucous barrier.

BACKGROUND: Inherited epidermolysis bullosa is a severe orphan hereditary disease with a predominant lesion of the skin and mucous membranes. The study of the comorbid background, including food allergies, remains an urgent issue, given the difficulties that often arise in the treatment and formation of the diet in this category of patients.
 AIM: to assess the frequency and nature of food allergies in children with inherited epidermolysis bullosa.
 MATERIALS AND METHODS: An open single-center randomized observational retrospective and prospective study included 165 patients aged 2 months to 17 years with an inherited epidermolysis bullosa. All patients were evaluated for an allergic history, determination of the levels of total IgE and allergen-specific serum IgE to the most significant food allergens (UniCAP System, Thermo Fisher Scientific), if necessary, a diagnostic elimination diet and diagnostic product administration were prescribed, based on the data obtained, the diagnosis of food allergy was confirmed or excluded.
 RESULTS: Among children suffering from inherited epidermolysis bullosa, confirmed food allergy was 13.9% of cases (in 13.4% in the group of children with dystrophic form of the disease, 15.2% in the group of children with a simple form of the disease). The main manifestations of food allergy in this cohort of patients were skin symptoms. Cows milk proteins were the most frequent etiological factor of food allergy (78.3%). Most children with food allergies had a high level of total IgE (87.5%). In children with non-IgE mediated form, high levels of total IgE were detected in 25% of cases, while these children were characterized by a severe course of the underlying disease or the presence of concomitant atopic dermatitis. Burdened heredity for allergic diseases turned out to be more typical for children with an IgE-mediated form of food allergy from the group of simple epidermolysis bullosa.
 CONCLUSION: Early detection of food allergies in children with inherited epidermolysis bullosa, as an aggravating factor in the course of the underlying disease, is necessary to optimize the tactics of dietary support for patients with inherited epidermolysis bullosa.

Abstract Mastocytosis is a rare and clinically heterogeneous disease characterized by abnormal accumulation of mast cells in various tissues. There are three major types of cutaneous mastocytosis (CM): diffuse cutaneous mastocytosis (DCM), urticaria pigmentosa and solitary mastocytoma, which is the most common form before the age of 3 months: 90% of CM cases present before 2 years of age, and congenital mastocytosis has been described in 23% of those. Solitary mastocytoma has been associated with a mutation of the KIT gene. A male infant was born at 39 weeks, with a large, indurated, blistering, ulcerated plaque containing yellow serous fluid affecting half his right calf. His nails and oral mucosa were normal. Our centre was contacted on suspected diagnosis of inherited epidermolysis bullosa (EB). There was no family history of EB, and the parents were not related. Initial testing showed a PCR positive for HSV type 1 and treatment with aciclovir and cefotaxime was initiated. There was no improvement after 2 weeks of treatment. Viral and bacterial skin swab were negative. A skin biopsy and ultrasound were performed showing extensive superficial hypoechoic lesion and reactive popliteal lymph nodes and the biopsy confirmed the diagnosis of mastocytoma. Bloods including tryptase level and abdominal ultrasound were normal. The lesion healed within 4 weeks with dressings and topical steroids. This case of a single isolated congenital mastocytoma shows the broad differential diagnoses that must be considered in the evaluation of bullous lesions in a newborn. It is key to biopsy early and always exclude ­infection.

Inherited epidermolysis bullosa (EB) is a group of genodermatoses with considerable clinical and genetic heterogeneity. Clinical diagnosis of the EB subtypes is frequently imprecise and requires confirmation with genetic testing. There is still limited study using genetic testing to identify EB subtypes in Indonesia. This study aims to identify the pathogenic variants of inherited EB patients at the Department of Dermatology and Venereology, Universitas Padjadjaran-Dr Hasan Sadikin General Hospital in Bandung, West Java, Indonesia and to describe the correlation between the phenotype and genotype of our patients. Twelve patients clinically diagnosed with EB were included in this study. Genetic testing was performed in collaboration with KK Women's and Children's Hospital, Singapore. Pathogenic variants were identified in the COL7A1 gene in seven patients, namely Dominant Dystrophic EB (DDEB) with mutation types c.5945G>T, c.6218G>A, Recessive Dystrophic EB (RDEB) c.2005C>T, c.6081dup, c.1268C>T, c.1784C>T which are all known mutations. Novel mutations were found in the COL7A1 gene in two patients namely DDEB c.6253G>T and RDEB c.6740C>T. Two EB Simplex (EBS) patients showed mutation KRT14 gene as c.356T>C, c.373C>T which are known mutation. In addition, a novel mutation in LAMA3 gene c.2649del was found in one Junctional EB (JEB) patient. The molecular diagnoses of 12 Indonesian EB patients were identified, of which three were novel pathogenic variants. Concordance between the initial clinical diagnosis and genetic testing was only 33%. This demonstrated the importance of early genetic testing for accurate diagnosis, prognostication, management and genetic counselling.

Introduction. Inherited epidermolysis bullosa belongs to the group of severe rare hereditary mechanobullous diseases. Often, the skin pathological process is difficult to treat, which leads to a decrease in the quality of life of such patients. The mechanism of development of transcutaneous sensitization in this category of patients is not excluded. This issue remains a very relevant area for study, given the characteristic nutritional deficiency and the difficulties that arise in the formation of the diet.The aim: to assess the frequency of occurrence and characteristics of food sensitization in children with epidermolysis bullosa.Materials and methods: the group included 164 children with epidermolysis bullosa (45 with rapid detection and 119 with dystrophic). For all patients, an assessment of the risk of an allergic history, determination of the total level of IgE and specific IgE of blood serum to the most significant food allergens (UniCAP system, Thermo Fisher Scientific). Results: food sensitization was detected in 34.1 % of children with epidermolysis bullosa (in 38.7 % of cases with dystrophic and in 24.4 % with a simple form of epidermolysis bullosa). Among the manifestations of food allergy in both groups, skin symptoms were more common. The most common etiological factors were products containing cow’s milk protein, eggs, and cereals. In the group of children with comorbid food allergies and epidermolysis bullosa, high and extremely high levels of total IgE were most common.Conclusion: a high frequency of food sensitization in patients with epidermolysis bullosa, was shown, which is important not only from a scientific, but also from a practical point of view. Given the nutritional deficiency characteristic of this disease, the complexity of nutritional support, the presence of comorbid food allergies should be taken into account when recommending nutrition and selecting therapeutic products for this category of patients.

Epidermolysis bullosa dystrophica (EBD) is an inherited disease of the structural proteins in the upper dermis, characterized by blister formation at the site of trauma followed by scarring. Skin fragility and blistering are the hallmarks of this disease. Cutaneous squamous cell carcinoma (cSCC) is a dreadful complication in the epidermolysis bullosa (EB) patients and common cause of death. The recent advances in distinct tumor microenvironment explain the aggressive nature of SCC in recessive Recessive Dystrophic Epidermolysis Bullosa (RDEB) patients and the use of collagen VII re-expression as a possible therapeutic measure. Regular follow-up is a must in preventing complications.