1/284. Abnormal deposition of type VII collagen in Kindler syndrome. Kindler syndrome is an extremely rare genetic disorder with features of epidermolysis bullosa and poikiloderma congenitale. Approximately 70 cases have been documented in the past 50 years, but only a few investigations of the basement membrane components have been done on these patients. The aim of this study was to examine the components of the basement membrane zone in search of the pathobiological defect(s) responsible for the clinical findings from a female 16-year-old patient diagnosed with Kindler syndrome. This patient also suffered from advanced early-onset periodontal disease. Biopsies were taken from inflamed gingiva and noninflamed oral mucosa as part of periodontal treatment. The basement membrane zone was examined using immunofluorescence microscopy to bullous pemphigoid antigens 1 and 2, collagen types IV and VII, laminins-1 and -5, and integrins alpha3beta1 and alpha6beta4. The biopsies studied revealed blistering with trauma above the level of lamina densa based on distribution of type IV collagen and laminin-1 at the blister floor. In the noninflamed mucosa, discontinuous areas of the basement membrane zone were found. Expression of the basement membrane zone components and the integrins studied appeared otherwise normal with the exception of type VII collagen which was found in abnormal locations deep in the connective tissue stroma. Our results suggest that Kindler syndrome is associated with abnormalities in the construction of the basement membrane, especially in the expression of type VII collagen. These alterations are likely to play a role as etiological factors leading to blister formation and early onset periodontal disease. ( info) |
2/284. Dystrophic epidermolysis bullosa associated with eosinophilic infiltrate and elevated serum IgE. An infiltrate of eosinophils is rarely seen in epidermolysis bullosa. We describe a child with dystrophic epidermolysis bullosa associated with a marked eosinophilic tissue infiltrate and elevated serum IgE. ( info) |
3/284. epidermolysis bullosa of the head and neck: a case report of laryngotracheal involvement and 10-year review of cases at the Hospital for Sick Children. OBJECTIVE: epidermolysis bullosa (EB) involvement of the head and neck, particularly of the larynx, can represent a challenge to the otolaryngologist. In this article, we present a case report of an infant with laryngeal EB requiring tracheostomy. All cases of EB occurring over the past 10 years at The Hospital for Sick Children are reviewed, and the frequency and extent of head and neck involvement, including that of the larynx and trachea, is described. A review of current literature describing laryngeal EB is presented. METHOD: The charts of all patients diagnosed with EB from the period November 1986 to July 1997 were extracted and reviewed in detail. A literature review of reports of laryngeal EB over the past 20 years was completed via a medline search. RESULTS: Sixteen cases of EB were identified and reviewed. These cases were categorized into the three major subtypes of EB: dystrophic EB, junctional EB, and EB simplex. Three cases of laryngotracheal involvement were reported, one within each subtype. In our literature review, only 18 cases of laryngotracheal EB have been documented in the past 20 years, and most of these were diagnosed with the junctional EB subtype. The overall prognosis for patients with junctional EB based on review of cases in our institution, as well as in our review of literature, was poor. CONCLUSIONS: The extent of EB involvement of the head and neck is variable, often depending on subtype. Laryngeal involvement with EB is very rare but of significance, since mortality within this group of patients is high, with death resulting most often from sepsis. ( info) |
4/284. epidermolysis bullosa associated with laryngeal stenosis. A boy with epidermolysis bullosa developed progressive laryngeal obstruction after age six months, with tracheotomy necessary at age three years. By eight years, the larynx was completely occluded by web and scar. Stenosis recurred repeatedly over the next seven years, three to six months after each corrective procedure, but laryngeal patency has been better-maintained since age 15. Laryngeal stenosis, presumably secondary to epithelial detachment, although a rare complication of epidermolysis bullosa, can be serious and life-threatening. ( info) |
5/284. Three hong kong Chinese cases of pretibial epidermolysis bullosa: a genodermatosis that can masquerade as an acquired inflammatory disease. Three patients in two families presented with many years' history of fragile skin, blisters, erosions and scars affecting almost exclusively the shin areas, accompanied by a variable degree of itching. Two of the patients also had toenail dystrophy. Skin biopsy revealed dermal-epidermal blister formation and milia but no immunohistochemical evidence of immunoglobulin or complement deposition. Electron microscopic study of the lesional and perilesional skin showed very sparse or absent anchoring fibrils. Immunolabelling for type VII collagen using LH 7.2 monoclonal antibody revealed a bright, linear staining pattern at the dermal-epidermal junction. The clinicopathological features were thus compatible with pretibial epidermolysis bullosa, a subtype of dystrophic epidermolysis bullosa. Of note, the inflammatory nature of the skin lesions, and their resemblance to nodular prurigo and hypertrophic lichen planus, had caused diagnostic difficulties in all cases in the past. A high degree of awareness of this rare subtype of epidermolysis bullosa is important to establish the correct diagnosis, to allow for genetic counselling and to plan clinical management. ( info) |
6/284. The use of tissue-engineered skin (Apligraf) to treat a newborn with epidermolysis bullosa. BACKGROUND: Inherited epidermolysis bullosa (EB) is a mechanobullous disorder. The Dowling-Meara variant, a subtype of EB, is characterized by widespread blister formation that may include the oral cavity and nails. Many patients with the Dowling-Meara phenotype are at increased risk of sepsis and death during infancy. The treatment of EB is generally supportive. The tissue-engineered skin used (Apligraf) is a bilayered human skin equivalent developed from foreskin. It is the only food and Drug Administration-approved skin equivalent of its kind. It is approved for the treatment of venous ulcers of the lower extremities. It has also been used to treat acute wounds, such as graft donor sites and cancer excision sites. observation: To our knowledge, we describe the first case in which a newborn with EB, Dowling-Meara variant, was treated with bilayered tissue-engineered skin. The areas treated with the tissue-engineered skin healed faster than the areas treated with conventional therapy. Most of the areas treated with tissue-engineered skin have remained healed, without developing new blisters. These areas appear to be more resistant to trauma. CONCLUSIONS: Our early success with tissue-engineered skin in this patient may have a significant impact on the future treatment of neonates with EB simplex. Future studies are needed to determine if the beneficial effects of tissue-engineered skin are reproducible in other neonates with EB simplex and in patients of all ages with different subtypes of EB. ( info) |
| Two brothers are reported with what appears to be a recessive and dystrophic type of epidermolysis bullosa. The oral lesions seen in these patients consisted of small fibrous nodules that were liberally distributed on the bound-down mucosa. These lesions have not been previously reported. One of the offspring of these patients, who was not affected by epidermolysis bullosa, was missing a large number of teeth. ( info) |
8/284. epidermolysis bullosa and associated problems in oral surgical treatment. The problems encountered in the anesthetic and oral surgical management of patients with epidermolysis bullosa are many and varied and are always challenging. Two patients with the disease, from the same family, underwent complete odontectomies. Exacerbation of the disease was prevented by hospitalization with meticulous preparation and exacting postoperative care. This is the first report in the dental literature of complete odontectomies performed on two afficted patients from one family. ( info) |
9/284. Dental anesthetic management of epidermolysis bullosa: a new approach. epidermolysis bullosa is a rare blister-producing skin disorder that has been of some concern to dentists in the past. Dental treatment has been attempted on an outpatient basis with local anesthesia. In some of these patients, local anesthesia has caused large intraoral bullae. Other methods of treatment have been sought, including the use of general anesthesia and intramuscular sedation. This is a report of a case in which intravenous ketamine hydrochloride was used with good results. We believe this method has much to offer in the treatment of these patients. ( info) |
10/284. Orthodontic management of a patient with epidermolysis bullosa. A male patient with a dental malocclusion presented with epidermolysis bullosa, a group of genetically determined diseases characterised by abnormal fragility of the skin and mucosa. Described is the management of the patient utilising Begg light Wire fixed-appliance orthodontic treatment. ( info) |