11/14. Management of squamous cell carcinoma in a patient with dominant-type epidermolysis bullosa dystrophica: a surgical challenge.epidermolysis bullosa dystrophica is a rare congenital skin disease inherited either as a recessive or dominant form, the latter form being less common and much less severe. Squamous cell carcinoma is a rare complication in the dominant form of the disease, only three such cases being reported before, making this case the fourth known case. Although the squamous cell carcinoma is well-differentiated by histopathology, it has a poor prognosis owing to its invasiveness, distant metastases, and multicentricity. Its management also poses a great challenge to the surgeon and personnel involved in patient care. A complete outline of the total management of such a case is described with some interesting observations not mentioned previously in the literature. All the previous three patients are deceased, and this is the only known surviving patient.- - - - - - - - - - ranking = 1keywords = skin disease (Clic here for more details about this article) |
12/14. head and neck complications of epidermolysis bullosa.Epidermolysis bullosa is a rare congenital skin disease which is characterized by easy formation of traumatic skin bullae. The disease is usually detected in early infancy due to the recurrent bullae. prognosis is dependent on the histological variant which is present. A case of autosomal recessive epidermolysis bullosa is presented, which demonstrates many of the head and neck complications of the disease. Traditional skin care modalities as well as multiple surgical procedures such as skin grafts and the use of amniotic membrane were used without success. Limited natural healing, which was possibly promoted by oral phenytoin, has occurred.- - - - - - - - - - ranking = 1keywords = skin disease (Clic here for more details about this article) |
13/14. epidermolysis bullosa dystrophica of the larynx and trachea. Acute airway obstruction.epidermolysis bullosa dystrophica (EBD) is a rare inherited skin disease generally presenting in newborns. It is characterized by noninflammatory bullous lesions which can involve the mucous membranes of the oral cavity and oropharynx. If death occurs, it is usually the result of septicemia or fluid and electrolyte imbalance. Although mucous membrane involvement may be extensive and despite the reported evidence of tracheal and indirect evidence of laryngeal involvement, airway obstruction has not been implicated as a possible contributor to mortality in these patients. Since the presence of EBD in the larynx of a newborn might be expected to produce upper airway obstruction, however, and because of the absence of reports of laryngeal EBD, a case is presented of EBD-induced airway obstruction accompanied by photographic evidence of laryngeal and tracheal involvement with EBD. A three-week-old boy with biopsy-proven EBD present at birth was admitted to UCLA Medical Center with increasing stridor. The patient's extremities, diaper area, and numerous pressure-bearing sites on the back and elbows demonstrated erythematous denuded skin with occasional bullae up to 2 cm in size. The mucous membranes of the mouth and oropharynx showed similar denuded lesions. A tracheotomy was performed followed by a direct microlaryngoscopy and bronchoscopy revealing EBD on the supraglottic structures, vocal cords, and trachea. Otolaryngologists who are involved in the care of newborns should be aware of the possible, nearly fatal laryngeal involvement that can accompany this disease.- - - - - - - - - - ranking = 1keywords = skin disease (Clic here for more details about this article) |
14/14. Kindler syndrome. Clinical and ultrastructural findings.BACKGROUND: Kindler syndrome is a genodermatosis that combines clinical features of hereditary epidermolysis bullosa and poikiloderma congenitale. The ultrastructural level of blister formation has not been well characterized. OBSERVATIONS: Two brothers with Kindler syndrome had a history of primarily acral blistering since infancy as well as photosensitivity. blister formation was found through the basal layer. Marked tonofilament clumping was found in intact keratinocytes adjacent to the blisters. The younger brother (aged 21 years) had actinic keratoses, which have not been previously described in Kindler syndrome. CONCLUSIONS: The findings of basal layer separation in both spontaneous and induced blisters in Kindler syndrome suggest this is the true level of blister formation. The finding of actinic keratoses in a young patient with Kindler syndrome suggests that some patients may be at increased risk for early solar-induced skin disease. The presence of clumped tonofilaments in keratinocytes adjacent to blistered areas suggests an abnormality of keratin 5 or 14 could be present and may play a role in blister formation in patients with Kindler syndrome.- - - - - - - - - - ranking = 1keywords = skin disease (Clic here for more details about this article) |
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