1/1066. Phakomatosis pigmentovascularis: A new case with renal angiomas and some considerations about the classification. We report phakomatosis pigmentovascularis detected in a Caucasian child characterized by the presence of a nevus flammeus and nevus anemicus on the face, a telangiectatic linear nevus of the right leg, and a very extensive blue spot covering 60% of the body surface, with ocular melanosis. Multiple angiomatous lesions of the kidney are associated without alterations of the central nervous system (CNS). This association has not been reported before; it could be a further expression of the complex of developmental defects. Our case corresponds exactly to type IIb in the classification of phakomatosis pigmentovascularis proposed by Hasegawa. As this classification seems very extensive, the higher incidence of cases corresponding to the second subtype suggests that we should identify it by the term phakomatosis pigmentovascularis, while the others could be considered as only very uncommon variants. ( info) |
2/1066. The rebound effect in the treatment of complex hemangioma with interferon alpha 2A. The authors report the case of an infant with an extensive face hemangioma with subglottic airway obstruction which had been successfully treated with interferon alpha 2A but then reoccurred with the same dimensions and airway blockage after treatment was abruptly interrupted. The authors suggest the implementation of a standard procedure for the interruption of interferon alpha 2A treatment in order to avoid this rebound effect and advise on the need for further studies to properly evaluate dosage and administration parameters for interferon alpha 2A in the treatment of difficult hemangioma. ( info) |
3/1066. E.N.T. manifestations of Von Recklinghausen's disease. Von Recklinghausen's disease (VRD) is a neurocutaneous, systemic disease characterized by CNS tumors and disorders, cafe-au-lait spots, generalized cutaneous neurofibromata, skeletal deformities, and somatic and endocrine abnormalities. It is an autosomal dominant, hereditary disorder found in approximately 1:2500 to 3300 births. There are many manifestations of this disease in the head and neck region of interest to the otolaryngologist. case reports of three patients with multiple ENT involvements are detailed. A review of the literature is presented with a brief discussion of diagnosis and treatment. The most common intracranial tumor in the adult is the acoustic neuroma, usually bilateral, while in the child it is the astrocytoma. A defect in the sphenoid bone is common and may produce temporal lobe herniation into the orbit causing pulsatile exophthalmos. Involvement of the facial bones usually causes radiolucent defects secondary to neurofibromata within nerve pathways, and a variety of asymmetrical changes, especially within the mandible. "elephantiasis" of the face is a hypertrophy of the soft tissues overlying a neurofibroma, often quite extensive and disfiguring. Laryngeal and neck involvement may compromise the airway and early and repeated surgical intervention is required. The over-all malignancy rate approaches 30%, indicating that the patient with VRD may be predisposed to developing a malignancy. There appears to be an increased surgical risk in these patients, with some demonstrating abnormal responses to neuromuscular blockade. ( info) |
4/1066. Mohs' surgery as an approach to treatment of multiple skin cancer in rhinophyma. BACKGROUND: Skin cancer arising within a rhinophyma is rare, less than would be expected from the coexisting chronic active inflammatory process. In rhinophyma, multiple coexisting tumours of different histologic types present an unusual challenge and have never been described in the literature. OBJECTIVE: The treatment approach to multiple tumours occurring in rhinophyma, utilizing Mohs' surgery, is reported and discussed. PATIENT: The case of a 64-year-old farmer with basal cell carcinoma, squamous cell carcinoma, and basosquamous carcinoma occurring in the setting of longstanding rhinophyma is described. CONCLUSION: Skin cancer, especially basal and squamous cell carcinoma, diagnosed simultaneously in a rhinophyma creates a challenge; the enlarged, inflamed, and hypertrophied tissue masks their margins. In our opinion, Mohs' micrographic surgery is the treatment of choice and should be primarily considered in view of the malignant potential of these tumours, as is shown by the substantial tumour extension in the case described. ( info) |
5/1066. Basal cell carcinoma: what dentists need to know. BACKGROUND: Basal cell carcinoma, or BCC, is a malignant epithelial tumor of the skin, commonly seen in the head and neck. Because dentists routinely evaluate the head and neck, the authors present three examples of BCC of the face and jaw to help clinicians recognize the condition. They also provide a literature review regarding BCC's etiology, classification, treatment and prevention. DESCRIPTION OF THE disease: Sun exposure plays an important role in the development of BCC. The most susceptible people are those with minimal skin pigmentation. BCC is more frequently seen in men than in women. The most common form of BCC is the nodular type, which, if untreated, eventually ulcerates and may result in extensive local tissue destruction. The three cases described in this article highlight the range of BCC severity. CLINICAL IMPLICATIONS: oral health care providers may play an important role in the recognition and diagnosis of BCC involving the head and neck. Early recognition and diagnosis may lead to management that results in improved cure rates, with reduced morbidity and reduced treatment costs. ( info) |
6/1066. Genital angiofibromas in tuberous sclerosis: two cases. Cutaneous lesions are an important feature of tuberous sclerosis (TS). Facial angiofibromas usually begin to appear at the end of the first decade of life and are considered to occur in about 88% of adults with TS. They are only rarely reported on sites other than the face or front. In this paper, we report two patients with the complete syndrome of TS that had, in addition to classic facial lesions, multiple papules on the genital area. Histopathology confirmed the diagnosis of angiofibroma. One patient's lesions were misdiagnosed as genital warts and were so being treated before the correct diagnosis was made. Although we don't know the incidence of genital angiofibromas in TS patients, we believe that they might be underreported, because dermatologists generally don't look for them when they see these patients. ( info) |
7/1066. Giant hairy nevus: preventable cause of amblyopia. An infant with a congenital giant hairy nevus causing occlusion of the visual axis of the right eye is presented. The nevus was removed at the early age of three weeks because of concern that the child would develop deprivation amblyopia. Since such nevi can undergo malignant changes, early removal may be justified for that reason alone. ( info) |
8/1066. Microcystic adnexal carcinoma arising in the setting of previous radiation therapy. While there are several reports of microcystic adnexal carcinoma developing in patients within sites of previous therapeutic irradiation, this relationship is not well described in the dermatologic literature. We report a case of a 42-year-old man with a remote history of therapeutic irradiation following surgical resection of periorbital rhabdomyosarcoma. Subsequently, he developed multiple basal cell carcinomas and a microcystic adnexal carcinoma within the field of irradiation. The histologic features were those of a classic microcystic adnexal carcinoma, with well differentiated nests and cords of keratinocytes displaying follicular and ductular differentiation infiltrating diffusely into the reticular dermis. Dense fibrosis was present surrounding the neoplastic keratinocytes. Nuclear atypia and mitotic figures were not identified. A carcinoembryonic antigen (CEA) stain demonstrated glandular differentiation. It is important for dermatologists to be aware of the apparent relationship between the rare microcystic adnexal carcinoma with its innocuous scar-like clinical appearance and prior local radiation therapy. ( info) |
9/1066. Endoscopically guided midfacial degloving in infants for removal of congenital and acquired midfacial masses. Midface degloving allows excellent exposure for a variety of congenital and acquired pediatric facial masses. The petite facial skeleton of the infant and child, however, can limit the utility of this dissection, thereby necessitating external approaches and altered cosmesis. Endoscopic assistance can aid in safe and complete removal of these masses without the need for external surgical approaches. In this series, five infants underwent midfacial degloving for midface lesions. Those masses that could not be adequately visualized underwent midfacial degloving with endoscopic assistance. Successful surgical removal was accomplished without complications, with follow-up ranging from 1 to 5 years. No surgical nasal deformity, vestibular stenosis, or decrease in midfacial growth was noted. Midfacial degloving with endoscopic guidance in selected cases is a cosmetically appealing option for lesions not otherwise resectable by standard midface degloving. ( info) |
| Blue rubber bleb nevus syndrome is a rare condition characterized by the presence of multiple angiomatic lesions of the skin. These are associated with similar lesions in other organs, namely in the gastrointestinal tract, causing anemia through chronic bleeding. We describe the case of a 72-year-old woman with microcytic anemia. A barium study revealed irregular lacunae in the distal esophagus. A subsequent endoscopy showed blue nodular lesions similar to angiomas of the esophagus and stomach fundus. endosonography confirmed its angiomatic nature. Exploration of other organs, using magnetic resonance and cranial computed tomography, did not reveal the presence of this type of lesion. In physical examination, two angiomatic lesions were observed on the face and lips, respectively. These were blue in color and compressible, leaving an empty wrinkled sac that rapidly refilled, typical of angiomas. ( info) |