Suprathel®‐assisted surgical treatment of the hand in a dystrophic epidermolysis bullosa patient

Epidermolysis bullosa (EB) is a progressive familial disorder composed of dermal mucosal blisters, flexion contractures and pseudosyndactylies. Flexion contractures and pseudosyndactyly can be treated with surgery but usually require skin grafting. Because of poor wound healing, skin graft harvesting is a challenge in these patients. In order to prevent donor‐site morbidities due to skin graft harvesting some alloplastic materials were introduced. In this study, we focused on Suprathel^® as a new allograft material for covering the skin defects of a patient with dystrophic EB.     

Successful Breast Conservation in a Patient with Epidermolysis Bullosa Simplex

Abstract: Before breast conservation can be offered to a woman with breast cancer one must understand both the indications and contraindications to such an approach. Factors that play a role in this decision include tumor-related factors and factors related to the expected cosmetic outcome following breast conservation. Here we present a case of a woman with epidermolysis bullosa simplex (EBS), a rare skin disorder that is characterized by blister formation following minor trauma, who underwent successful breast conservation.     

Anaesthetic management of two different modes of delivery in patients with dystrophic epidermolysis bullosa

Dystrophic epidermolysis bullosa is an inherited severe bullous condition characterised by extreme skin fragility and blistering in response to minor trauma. We present two obstetric cases with recessive dystrophic epidermolysis bullosa, one who underwent elective caesarean section, the other who delivered vaginally. The key points in the anaesthetic management of the obstetric patient with dystrophic epidermolysis bullosa include multidisciplinary preassessment, airway management strategies and the role of regional anaesthesia.     

Understanding the outcomes of a home nursing programme for patients with epidermolysis bullosa: an Australian perspective

Epidermolysis bullosa (EB) consists of a spectrum of genodermatoses characterised by skin fragility and various degrees of skin and mucous membrane blistering. Minimal trauma and friction can cause extensive blistering in patients with EB, resulting in a number of complications. However, wound management is the main challenge for these patients because of a high risk of infection, fluid loss and potential development of aggressive squamous cell carcinoma (SCC). Indeed, patients with EB have an increased risk for developing skin cancers compared to the general population. In 2012, a home nursing programme was established in Australia to provide assistance to families or patients with severe forms of EB. Nursing care was provided to patients with severe EB during dressing changes in their homes over a period of 2 years. Both families of patients and nurses were surveyed periodically using a developed questionnaire to assess the benefits of this home nursing and its impact on the patients, their families and the nurses. Key findings included a perceived improvement in quality of life, a better provision of support and improved family life management. These findings are the first to highlight the benefits of this national home nursing programme for EB patients within Australia and demonstrate the continued need and benefit of home nursing for patients with severe skin blistering disorders.     

Esophageal stenosis in epidermolysis bullosum: a challenge for the endoscopist

Background/Purpose

Esophageal stenosis is a severe complication in dystrophic epidermolysis bullosa (EB). Endoscopic dilations may cause mucosal injury with stricture recurrence. Our aim was to describe our referral EB-center experience on safety and long-term efficacy of fluoroscopically guided balloon dilation without endoscopy.

Methods

Over 14 years, 34 patients with EB, previously evaluated with barium esophagogram for dysphagia, underwent balloon esophageal dilation. Under fluoroscopy, a guide wire was introduced via a nostril into the stomach. A 12-mm pneumatic balloon, which passed over the wire, was filled using radio-opaque contrast, dilating the stricture. Orotracheal intubation was avoided. Antibiotics, dexamethasone, and proton-pump inhibitors were administered. Study approval was obtained from our ethical board.

Results

Ninety-three dilations were performed. Seventeen patients had a single stenosis. The mean age of onset was 18 years (range, 3-47 years). Thirteen patients underwent one dilation. In 6 cases, endoscopy was necessary to visualize the esophageal lumen. Complications included cervical esophageal perforation (2) and transitory dysphagia (10). Thirty patients were feeding within 24 hours. During the follow-up, 2 patients required a gastrostomy, and 2 patients underwent fundoplication for gastroesophageal reflux disease.

Conclusions

Fluoroscopically guided balloon dilation in EB is a safe and well-tolerated procedure. An experienced endoscopy team is necessary in certain cases.     

Second primary tumors and field cancerization in oral and oropharyngeal cancer: molecular techniques provide new insights and definitions

Second primary tumors (SPTs) are a significant problem in treating oral and oropharyngeal squamous cell carcinoma and have a negative impact on survival. In most studies the definition of SPT is based on the criteria of Warren and Gates, published in 1932. These criteria, however, are ill-defined and lead to confusion. Recent molecular studies have shown that a tumor can be surrounded by a mucosal field consisting of genetically altered cells. Furthermore, evidence has been provided that SPTs (defined by classical criteria) can share some or even all genetic markers with the index tumor, indicating that both tumors have arisen from a common cell clone. We propose that these secondary neoplastic lesions should not be considered SPTs, implying that the present concept of SPT needs revision. This review describes a novel classification of the secondary tumors that develop after treatment of a carcinoma in the oral cavity or oropharynx. On the basis of the molecular analysis of the tumors and the genetically altered mucosal field in between, we propose definitions for a "true SPT," a local recurrence, a "SFT" (second field tumor derived from the same genetically altered mucosal field as the primary tumor), and a metastasis. Considering the etiologic differences of these lesions, we believe that an accurate molecular definition is essential to make headway with the clinical management of oral and oropharyngeal cancer.     

Functional outcomes after surgical reconstruction of the base of tongue using the radial forearm free flap in patients with oropharyngeal carcinoma

BACKGROUND: Historically, the prevention of functional morbidity after multimodal treatment for squamous cell carcinoma in patients with large base of tongue lesions has been challenging. The purpose of the present research is to report prospectively collected speech and swallowing outcomes for patients with disease that encompassed half or more of the base of tongue. METHODS: Speech and swallowing data were gathered at 4 evaluation times that spanned the first year of treatment for 32 patients treated with surgery and adjuvant radiation therapy. RESULTS: Speech intelligibility remained above 90% for most patients. In the early postoperative period, patients with 100% of their base of tongue resected experienced decreased intelligibility, which improved by the half-way mark of the evaluations. The majority of patients resumed normal oral feeding, with those who lacked dentition needing to puree their food. Modified barium swallow studies revealed that only 3 patients aspirated thin liquid at the final evaluation. Five patients used a feeding tube at some point over the year of evaluation. At the final evaluation, only 3 patients required enteral feeding, with 2 of these using the tube in combination with oral feeding and 1 using the tube for primary nutrition. CONCLUSIONS: The results of this study suggest that surgical reconstruction of the base of tongue using the radial forearm free flap in patients with large base of tongue lesions can lead to functional speech and swallowing results.     

General anesthesia in a patient with dystrophic epidermolysis bullosa

A 13-year-old boy with epidermolysis bullosa underwent a repair of pseudosyndactyly. He had a long history of bullae formation in the oral cavity and on the pharynx and body surface, and some were active at the time of surgery. We chose inhalational general anesthesia with tracheal intubation using sevoflurane and nitrous oxide. The trachea was successfully extubated after the surgery, and no major bulla formation was observed. General anesthesia with tracheal intubation may be chosen as anesthesia for patients with epidermolysis bullosa.     

Merkel cell carcinoma of the tongue and head and neck oral mucosal sites.

Merkel cell carcinoma (MCC) is an uncommon primarily dermal malignancy of relatively aggressive biologic course. Several presentations in the mucosa of the head and neck region have been reported in the literature, and 3 such patients have recently been seen at our institution. We review this recent experience and present the first reported primary lingual MCC in a 57-year-old caucasian man. We provide a review of oral mucosal MCC and guidelines for histopathologic and immunohistochemical diagnosis. Merkel cell carcinoma should be included in the differential diagnosis of head and neck mucosal lesions, especially if the tumor is submucosal, and MCC may involve the tongue. Mucosal MCC is aggressive, and there is a high risk for local recurrence and regional and distant metastasis. Fulminating courses are often seen. We discuss our treatment policies based on the current literature.     

Anatomically‐based transoral surgical approach to early‐stage oral tongue squamous cell carcinoma

The mainstream of treatment of early‐stage oral tongue squamous cell carcinoma (OTSCC) is represented by transoral resection with “adequate” free margins. Despite that, a precise and shared definition of “adequate margin” is lacking, and so is a standardized transoral surgical technique.The tongue is a symmetrically paired organ, consisting of intertwining intrinsic and extrinsic muscles, which can be distinguished during dissection. Routes of tumoral spread in oral tongue cancer are well‐known and should be taken into account during resection. We propose herein a standardized and replicable surgical technique to resect early‐stage OTSCC, based on rational anatomical considerations.     

Platelet‐rich plasma for resistant oral erosions of pemphigus vulgaris: A pilot study

Oral erosions and ulcers of pemphigus vulgaris (PV) are a debilitating condition that is usually difficult to treat. The wound healing properties of platelet‐rich plasma (PRP) encouraged us to evaluate its usefulness in treatment of non‐healing oral PV lesions. Seven patients with chronic oral PV, resistant to conventional therapy, were treated with weekly to monthly injections of PRP of affected mucosal membranes. All recruits reported improvement in pain and mastication and 6 of 7 patients had an improvement in pemphigus disease area index scores with PRP treatment. PRP injections seems to accelerate the healing process and decrease the pain and eating discomfort associated with the oral erosions and ulcers induced by PV.     

Angiosarcoma Arising from the Tongue of an 11-Year-Old Girl with Xeroderma Pigmentosum

Xeroderma pigmentosum (XP) is a rare autosomal recessive defect in DNA endonuclease activity that is associated with the development of cutaneous malignancies, at sun exposed sites, including basal cell carcinoma, squamous cell carcinoma, and melanoma. Squamous cell carcinomas are also known to target the anterior tongue. Patients sometimes develop angiosarcomas, and these invariably arise from sun-exposed skin. A biopsy was taken from a large mass arising in the anterior tongue of an 11-year-old girl with XP and a history of cutaneous basal cell carcinomas. The histopathologic findings demonstrated a high grade epithelioid neoplasm resembling a poorly differentiated squamous cell carcinoma, but the immunohistochemical profile (AE1/AE3 negative, p63 negative, CD31 positive, CD34 positive) established the diagnosis of angiosarcoma. Angiosarcoma is an XP-related tumor that usually arises in sun-exposed skin but can also arise in the oral cavity. For patients with XP who develop epithelioid neoplasms of the oral cavity, epithelioid angiosarcoma should be considered in the differential diagnosis.     

Age and survival from squamous cell carcinoma of the oral tongue

BACKGROUND: A worse outcome for young patients with head and neck squamous cell carcinoma has been previously suggested in the literature. This issue has been investigated with respect to squamous cell carcinoma of the oral tongue. METHODS: The Surveillance, Epidemiology and End Results (SEER) program tumor registries were used. Cases of squamous cell carcinoma of the oral tongue (ICD-9 codes 141.1-141.5) diagnosed from 1988-1993 in which this cancer was the one and only cancer were included (n = 749). Disease-specific survival was evaluated with respect to age, type of surgical treatment, and radiotherapy while stratifying for stage using Cox proportional hazards analysis. A secondary analysis included the additional variables, tumor size and nodal status. (These fields were recorded in SEER for only about half of the cases in the primary analysis.) RESULTS: Analysis revealed that increasing age predicted worse disease-specific survival. A 10-year increase in age was associated with an 18% increase in risk of death. Surgical therapy with excision of the primary tumor alone or excision plus neck dissection predicted improved survival, whereas the use of radiotherapy was associated with worse survival. (The latter may reflect bias associated with positive surgical margins or premorbid conditions.) In the secondary analysis, age, tumor size, and positive lymph node status were associated with significantly worse disease-specific survival, whereas surgical excision plus neck dissection was associated with improved survival. CONCLUSION: The SEER database shows increased disease-specific mortality with increasing age in patients with cancer of the oral tongue. Surgical therapy is associated with improved survival, whereas the use of radiotherapy, increasing tumor size, and positive lymph node status are associated with worse outcome.     

Microscopic cut-through of cancer in the surgical treatment of squamous carcinoma of the tongue: Prognostic and therapeutic implications

A retrospective review was carried out of the records of 268 patients with a pathologically proved diagnosis of squamous carcinoma of the tongue treated by glossectomy at M.D. Anderson Hospital and Tumor Institute from January 1, 1970 through December 31, 1979. Pathologic findings found on frozen section analysis were correlated with the TNM stage of the tumor, histologic characteristics, perineural invasion, type of treatment, local recurrence, and survival rate.Thirty-eight patients with squamous carcinoma of the oral tongue and 16 patients with tumors of the base of the tongue had initially positive frozen section margins. Forty-one of these patients had margins that were negative at the completion of surgery. Thirteen patients never had negative margins. Positive mucosal margins were more common in smaller tumors and positive muscular margins were more common in larger tumors. Patients with perineural invasion and larger tumors had a higher percentage of positive margins.Those patients with initially positive margins that were rendered negative at the completion of the procedure and treated with surgery only had a significantly increased local recurrence rate and reduced survival compared with patients similarly treated with initially negative margins. Tumor stage, location (muscular versus mucosal) of positive margins, and the presence of perineural invasion were not significant in predicting local recurrence or decreased survival. If all patients with microscopically positive margins are considered for postoperative radiotherapy, then the routine use of intraoperative frozen section examination of the margins of resection in squamous carcinoma of the tongue may not be justified.     

Chronic ulcerative stomatitis: diagnostic and management challenges--four new cases and review of literature.

Chronic ulcerative stomatitis (CUS) is a recently described mucocutaneous disease characterized by involvement of mucosal surfaces and skin. The disease usually presents in the form of painful oral ulcers and has been seen predominantly among older women. Clinically, CUS patients may exhibit erosive or ulcerative lesions of oral mucosa resembling erosive lichen planus and/or other vesiculobullous lesions. Routine histology may exhibit features of lichenoid mucositis and is often nondiagnostic. Direct immunofluorescence studies of mucosal or skin biopsies usually reveal a unique pattern of IgG bound to nuclei of keratinocytes of the basal and parabasal cell layers. Chronic ulcerative stomatitis exhibits a unique resistance to standard treatments available, including topical and systemic corticosteroids and immunomodulatory medications. However, long-lasting favorable clinical responses may be achieved with hydroxychloroquine pharmacotherapy. We present the clinicoimmunopathologic findings of four cases of CUS and discuss the varied clinical, microscopic spectrum, and treatment for this chronic, debilitating, and often recalcitrant condition. A systematic review of the literature, including 35 previously reported cases, is presented.     

Oncologic and functional considerations of total glossectomy

The efficacy of total glossectomy for advanced carcinoma of the tongue remains controversial. A retrospective chart review was undertaken to evaluate the oncologic and functional results in 17 consecutive patients who underwent this procedure. There were two patients with stage III disease, eight with stage IV disease, and seven with recurrent disease. The larynx was preserved in seven patients. One patient required a secondary laryngectomy. All patients were reconstructed immediately, 11 with a pectoralis major myocutaneous flap and 6 with free-tissue transfer. The operative mortality was 6 percent; the morbidity was 59 percent. At last follow-up, 53 percent of the patients were alive without disease, with a mean disease-free survival period of 36 months. Ninety-three percent of the patients regained swallowing and independent oral alimentation; 80 percent of those with laryngeal preservation regained intelligible speech. We have concluded that total glossectomy should be considered as a primary modality for advanced carcinoma of the tongue and not solely reserved for salvage in hopeless situations. With or without laryngectomy, excellent survival and functional results can be obtained.     

Functional restoration after subtotal glossectomy and laryngectomy

Extensive resection of carcinoma that involves the tongue base and supraglottic larynx is accompanied by significant potential morbidity and mortality. This is often indicated by poor rates of cure and the limited palliation afforded by radiotherapy alone. Removal of a significant portion of the posterior tongue frequently results in intractable aspiration. Techniques in reconstruction of the oropharyngeal defect and tongue base have included primary closure, random flaps, and myocutaneous flaps. Each of these techniques has been successful, to some degree, in resurfacing pharyngeal defects. However, the functional results in regard to deglutition are less than satisfactory as a result of aspiration. Frequently, simultaneous or delayed total laryngectomy is performed to deal with the pulmonary complications. Various types of laryngoplasty do not uniformly correct the problems of aspiration and deglutition associated with subtotal glossectomy. Our experience includes eight patients who had advanced squamous cell carcinoma of the tongue base, vallecula, and the supraglottic larynx. All patients underwent partial or subtotal glossectomy and laryngectomy. The mucosal defect was reconstructed with pectoralis myocutaneous flap. In order to reestablish voice, a primary tracheopharyngeal shunt was created with the use of a portion of cricoid and upper trachea. The majority of these patients have had successful rehabilitation of deglutition, mastication, and speech.     

Prognosis of subglottic carcinoma: Is it really worse?

It is traditionally accepted that subglottic carcinoma has a worse prognosis than tumors arising in other subsites of the larynx, owing to its tendency to present in advanced stages, with a high incidence of cartilage invasion and extralaryngeal spread. The incidence of subglottic carcinoma varies among series, mainly because there is no uniform definition of the upper boundary of the subglottis. The extent of the tumor may be difficult to define because subglottic carcinoma may spread through the submucosa without visible mucosal changes. There is also a rich lymphatic network in the subglottis draining to the prelaryngeal and paratracheal lymph nodes, which are usually not involved by cancers arising in other laryngeal subsites. Current literature data indicates that early‐stage subglottic carcinoma can be treated using radiotherapy or chemoradiotherapy with high locoregional control and survival rates. In advanced stage subglottic carcinoma, combination of surgery followed by radiotherapy or chemoradiotherapy resulted in comparable outcomes, as in advanced carcinomas from the rest of the larynx. Stage for stage, it is likely that the prognosis for subglottic carcinoma and of glottic and supraglottic cancers is similar.     

Carcinoma of the dorsum of the tongue

BACKGROUND: Squamous cell carcinoma (SCC) of the anterior two thirds of the tongue is the second most common oral cancer, with the lateral border being the most common location. Squamous cell carcinoma of the dorsum of the tongue is exceedingly rare and has been described in the past as a myth or misdiagnosis. The clinical diagnosis of SCC on the dorsum of the tongue is difficult because it may be mimicked by a wide variety of benign and premalignant lesions, including granular cell myoblastoma, erosive lichen planus, medial rhomboid glossitis, and amyloidosis. In this study we re-evaluate the entity of SCC of the dorsum of the tongue. METHODS: We reviewed 5 large series of carcinoma of the tongue, which include accurate documentation of the topographic location of the carcinoma. We also describe 5 cases of SCC of the dorsum of the tongue from our own series of 99 patients with carcinoma of the tongue. RESULTS: In all 6 series, carcinoma of the dorsum of the tongue was present in 3 to 5% of the carcinomas of the tongue. CONCLUSION: Although rare, SCC of the dorsum of the tongue exists and may be mimicked by benign conditions, thus SCC should be suspected when diagnosing lesions of this area of the tongue.     

Evaluation of PTEN Immunoexpression in Oral Submucous Fibrosis: Role in Pathogenesis and Malignant Transformation

Oral submucous fibrosis (OSMF) is a chronic debilitating disease and a premalignant condition of the oral cavity characterized by generalized submucosal fibrosis. Despite its precancerous nature, the molecular biology regarding its malignant potential has not been extensively studied. PTEN, a known tumor suppressor gene is mutated in a majority of human cancers and has also been implicated in several fibrotic disorders. The present study aims to evaluate the expression of PTEN in OSMF and oral squamous cell carcinoma (OSCC) and correlate it with the pathogenesis and malignant transformation of OSMF. 60 cases total of OSMF (30) and OSCC (30) were subjected to immunohistochemistry using PTEN antibody. Ten normal oral mucosa (NOM) specimens were also stained as controls. There was progressive loss of PTEN expression from normal mucosa to OSMF and OSCC (p ≤ 0.001). Significant differences were observed for PTEN expression between NOM and OSMF, OSMF and OSCC as well as NOM and OSCC. Though a progressive loss of PTEN was noticed between early OSMF and advanced OSMF, the variation did not reach statistical significance (p ≥ 0.001). Data suggest that there is a significant loss of PTEN expression in OSMF as compared to normal oral mucosa and that this trend increased from OSMF to OSCC. Thus, alteration of PTEN is likely an important molecular event in OSMF pathogenesis and oral carcinogenesis.