A female newborn had the following characteristics; a congenital localized absence of skin over the lower extremities; blistering of the skin or mucous membrane, incited by trauma, which heals without scarring; and congenital absence or deformity of the nails. In respect to the characteristic manifestation, clinical course and electron microscopic features, our patient seems to fit well into Bart's syndrome. The inheritance pattern appears to be autosomal dominant but, as in this report, isolated cases have been recognized. As the review of the literatures, congenital localized absence of skin has been observed in various subsets of inherited E.B. But, we believe that the term Bart's syndrome should be used to identify patients with good prognosis as the Bart's initial description To the best of our knowedge, this is the first reported case of Bart's syndrome in the korean literature.
Blister ; Cicatrix ; Congenital Abnormalities ; Female ; Humans ; Infant, Newborn ; Inheritance Patterns ; Lower Extremity ; Mucous Membrane ; Prognosis ; Skin

Classic pulmonary blastoma is a variant of carcinosarcoma which is seen almost exclusively in adults. By contrast, most cases of pulmonary blastoma in children have been described as having an exclusive mesenchymal composition, which was proposed as pleuropulmonary blastoma. Recently we experienced a case of pleuropulmonary blastoma, type 1. This 27-month-old male baby was transferred to our hospital due to the left tension pneumothorax. Chest CT revealed a subpleural pulmonary cystic lesion on the left upper lung and an open cystectomy was performed. Histologically the lesion was composed of variable-sized cystic structures lined with a single layer of respiratory-type epithelium. the underlying stroma was composed of sheets of small, round to oval, primitive tumor cells. Some of them had eccentric, eosinophilic cytoplasm, suggestive of rhabdomyoblastic differentiation. These rhabdomyoblastic cells were fuchsinophilic and positive with desmin and vimentin on immunohistochemistry.
Child ; Adult ; Male ; Female ; Humans

An immunohistochemical stain for p53 tumor suppressor gene product was performed in 59 primary lung cancers to study the relation between its expression and type of the tumor, degree of tumor differentiation,clinical stage and smoking. The results were as follows: 1. The expression of mutant p53 protein was noted in 28 of 59 cases(47.5%) of primary lung cancers. The p53 protein was expressed in 21 of 35(60%) squamous cell carcinomas, in 6 of 21(28.6%) adenocarcinomas, and 1 of 1(100%) small cell carcinoma. There was a significant difference in expression of p53 among the different histologic types of lung cancer(p<0.05). 2. The incidence of p53 protein expression did not correlate with the degree of tumor cell differentiation or the clinical stage of lung carcinoma(p>0.05). 3. The incidence of p53 protein expression was higher in smokers(current: 75%, former: 46.2%) than in non-smokers(5.6%) and was increased in direct proportion to the pack years. There was a statistically significant correlation between p53 expression and smoking(p<0.05). The mutation of p53 gene may often be an early event in the development of lung cancer and it is suggested that the smoking known as a risk factor for the development of the lung cancer may be associated with the transformation of p53 tumor suppressor gene into mutant p53 gene or oncogene.
Incidence ; Risk Factors ; Genes, Tumor Suppressor ; Lung Neoplasms

Peripheral T-cell lymphoma is the generic group given to a family of tumors composed of neoplastic lymphocytes with phenotypic features of peripheral T-cells. Certain peripheral T-cell lymphomas develop a hemophagocytic syndrome that mimics malignant histiocytosis, both clinically and pathologically. We experienced a case of nasal T-cell lymphoma, histologically mimicking malignant histiocytosis in a 40-year-old male. The chief complaints were nasal obstruction and intermittent mild fever. Mild anemia, elevated SGOT and SGPT, polyclonal gammophthy, and moderate hepatomegaly were present. Two weeks later was present an enlarged cervical lymph node. The biopsied nasal mass showed angiocentric and angiodestructive peripheral T-cell lymphoma withextensive necrosis and marked erythrophagocytosis by non-neoplastic histiocytes. Subsequently, cervical lymph node was biopsied, which showed peripheral T-cell ltmphoma with extensive necrosis and erythrophagocytosis as well. The atypical lymphoid cells revealed pan-T(+), but CD4(-) and CD8(-), whereas the reactive histiocytes showed lysozyme(+), immunohistochemistry.

Neurofibromatosis is an autosomal dominant abnormality that may affect multiple organ systems. The eyelids, the orbits, the adjacent tissues and bones may be involved with varying frequency and severity. The management of orbitotemporal neurofibromatosis depends very much on the type and severity of the orbital involvement and on the functional state of the eye. Experience with surgical management of orbitotemporal neurofibromatosis involved in the orbit, the temporal soft tissue and bone with blind eye is reported. The goal of surgery is tumor resection, reconstruction of the orbital socket, aesthetic eyelids, and insertion of the artificial prosthesis. A two stage approach is recommended. In the first stage, tumor is resected and the orbital socket is reconstructed with titanium mesh plate and cranial bone graft. After reconstruction of the orbital socket, galeal flap is rotated posteriorly to cover the mesh plate and canthopexy is accomplished. Mask lift is performed to enhance aesthetics. In the second stage, correction of the bulky eyelids is achieved and orbital space for insertion of the artificial prosthesis is reconstructed. Authors have managed a orbitotemporal neurofibromatosis with blind eye of a 41-year-old male using titanium mesh plate and bone graft with satisfactory results.
Adult ; Esthetics ; Eyelids ; Humans ; Male ; Masks ; Neurofibromatoses* ; Neurofibromatosis 1 ; Orbit ; Prostheses and Implants ; Titanium ; Transplants

Rosai-Dorfman disease (RDD) is a rare type of benign histiocytosis characterized histologically by intracellular engulfment of lymphocytes. Extranodal RDD may occur as a part of generalized process involving lymph nodes or may involve extranodal sites independent of the lymph node status. We have experienced a case of extranodal Rosai-Dorfman disease of the nose as an initial lesion prior to nodal involvement. The patient was a 20-year-old woman who complained of nasal obstruction for 4 years, remotely, and left submandibular mass for 3 months, recently. Histologically, the lesion taken from nasal cavity, submandibular gland and left upper jugular lymph node all showed an heavy infiltrate consisted of plasma cells, lymphocytes and sheets of macrophages with abundant pale cytoplasm, which replaced organ architecture. The associated focal fibrosis made it difficult to differentiate from inflammatory pseudotumor. Some macrophages demonstrated phagocytosis of lymphocytes, plasma cells and occasionally neutrophils. The macrophages were strongly positive for S-100 protein.
Cytoplasm ; Female ; Fibrosis ; Granuloma, Plasma Cell ; Histiocytosis ; Histiocytosis, Sinus* ; Humans ; Lymph Nodes ; Lymphocytes ; Macrophages ; Nasal Cavity ; Nasal Obstruction ; Neutrophils ; Nose* ; Phagocytosis ; Plasma Cells ; S100 Proteins ; Salivary Glands* ; Submandibular Gland ; Young Adult

Pityriasis lichenoides chronica is considered to be a benign disease. Erythematous yelIowieh scaly maeulea appear insidiously, chiefly on the sides of trunk, thighs and upper arms. Acanthosis nigricans is a rare cutaneous disorder with peak incidence in puberty characterized by hyperkeratosis and, dark pigmentation. We report a case of pityriasis lichenoides chronica assaciated with pseudoacanthosis nigricans in a 14 year-old obeae male patient who has bean sized erythematoua scaly papules on the trunk and extremities, velvety black brownish colored patchea on the neck and both axillary regions.
Acanthosis Nigricans ; Adolescent ; Arm ; Extremities ; Humans ; Incidence ; Male ; Neck ; Pigmentation ; Pityriasis Lichenoides ; Pityriasis* ; Puberty ; Thigh

Edwards syndrome is first introduced by Edwards and characterized by facial anomalies, multiple cardiovascular, gastrointestinal, urogenital, and skeletal malformations. It results from triplication of part or all of chromosome 18 in some or all of the patient's cells. It has an incidence of 1 in 4,500 live births or less and short life expectancy. Recently we experienced a case of 3-day-old female new born infant with this syndrome. Post mortem examination showed progeric face with prominent occiput, large flabby ears, microphthalmia, and micrognathia, bilateral clenched hands with flexion contraction of middle fingers, and bilateral rockerbottom feet. Internal examination revealed horseshoe kidney, esophageal atresia with tracheoesophageal fistula, two accessory spleens, and multiple cardiac anomalies. A trisomy 18 was confirmed by the cytogenetic study.
Infant ; Male ; Female ; Infant, Newborn ; Humans ; Incidence

No abstract available.
Anesthesia* ; Mediastinal Emphysema*

Botulium toxin A has been used therapeutically in humans for over 20 years for a variety of medical indications. Some wrinkle and unsightly facial expressions are due to hyperkinetic muscle. For the past year, the author has injected it for variant purpose, so we describe the our experience with the variant extended use of the toxin including correction for just dynamic wrinkle, used with subperiosteal face lifting or peeling, post-traumatic twitching, and facial paralysis and relevant anatomy are discussed. Also we have another concept about muscle anatomy which have superficial and deep portion. The superficial portion is for harmonious action with SMAS during facial expression, which is also related to fine wrinkle, and the deep portion play role gross movement. Botulium toxin is safe and effective in varient field without complication. Its use is associated with a high degree of patient and physician satisfaction.
Exotoxins* ; Facial Expression ; Facial Paralysis ; Humans ; Rhytidoplasty