A 3-year-old-male had the appearance of red urine at birth and developed recurrent bullae in sun-exposed area of the skin, erythrodontia, alopecia, splenomegaly and hemolytic anemia, We observed coral red fluorescence of the teeth and urine under Wood's light and detected excessive excretion of the uroporphyrin in the urine and coproporphyrin in the stool wlth inreased porphyrin in the blood. Fluorescence of erythrocyte was demonstrated by:fluoreacence microscopy. Histologic findings showed subepidermal bulla with PAS-positive hyaline deposits around the blood vessels and revealed IgG deposits in the wall of blood vessels and dermo-epidermal junction by direct immunofluorescence.
Alopecia ; Anemia, Hemolytic ; Anthozoa ; Blood Vessels ; Erythrocytes ; Fluorescence ; Fluorescent Antibody Technique, Direct ; Hyalin ; Immunoglobulin G ; Microscopy ; Parturition ; Porphyria, Erythropoietic* ; Porphyrias ; Skin ; Splenomegaly ; Tooth

No abstract available.
Acanthosis Nigricans* ; Growth Hormone*

No abstract available.
De Lange Syndrome*

Drug-induced toxic epidermal necrolysis (TEN) is a bullous erythematous disease that is characterized by the appearance of scaled lesions and large sheets of pilling on the skin. A caseof TEN occured in a 10 month old female patient. The characteristic skin lesions of TEN developed after oral administration of carbamazepine for a partial seizure. Thig case consists of prodrome of malaise, fever, anorexia, and conjunctivity followed by erythema & flaccid bullae formation. Diagnosis was confirmed by histologic findings. This patient was treated with a massive systemic corticosteroid, antibiotics, fluid and electrolytes, and topical measures. Authors experienced an extremely rare case of TEN dur to carbamazepine, So report it with a brief review of literature.
Administration, Oral ; Anorexia ; Anti-Bacterial Agents ; Carbamazepine ; Diagnosis ; Electrolytes ; Erythema ; Female ; Fever ; Humans ; Infant ; Seizures ; Skin ; Stevens-Johnson Syndrome*

The Kniest syndrome is characterized by disproportionate dwarfism and Kyphoscoliosis which may be associated with flat facies with prominent eyes, cleft palate, hearing loss, myopia and limited joint motion. The skeletal abnormalities are recognizable at birth with shortening and deformity of the extremities and stiff joints. Marked lumbar lordosis and kyphoscoliosis develop in childhood, resulting in disproportionate shortening of the trunk. We experienced a case of kniest syndrome, confirmed by clinical features, radiological features, and histological examination of cartilage. A brief review of the related literature is presented.
Animals ; Cartilage ; Cleft Palate ; Congenital Abnormalities ; Dwarfism ; Extremities ; Facies ; Hearing Loss ; Joints ; Lordosis ; Myopia ; Parturition

BACKGROUND: Initial symptoms for esophageal perforation have not been clarified, but when there is no early diagnosis and proper treatment to follow immediately after the diagnosis, it is fatal for the patients. Therefore, this study attempted to discover the factors that influence the prognosis of esophageal perforation to contribute to the improvement of the treatment result. MATERIAL AND METHOD: The subjects of this study are 32 patients who came to the hospital with esophageal perforation from October, 1984 to June, 2000. This study examined the items for clinical observation such as patients' sex, age, cause of the perforation, perforation site, the time spent until the beginning of the treatment, symptoms caused by the perforation and its complication, and treatment methods. This study tried to find out the relationship between the survival of patients and each item. RESULT: There were 24 male and 8 female patients and their mean age was 49.7 +/- 16.4. For the causes of perforation, there were 14 cases(43%) of iatrogenic perforation, which ranked first, caused by the medical instrument operation and surgical damage. As for the perforation sites, thoracic esophagus was the most common site(26 cases of 81.2%) and chest pain was the most frequent symptom. The complication caused by esophageal perforation showed the highest cases in the order of mediastinitis, empyema, sepsis and peritonitis. After the treatment, there were 23 cases of survival and 9 cases of mortality. The total mortality rate was 28.1% and the main causes of mortality were sepsis and acute respiratory distress syndrome(ARDS). As for the treatment, 8 cases(25.0%) treated the perforation successfully using conservative treatment only. As for the surgical treatment, there were 5 cases(15.6%) of cervical drainage, 7 cases (21.8%) of primary repair and 12 cases(37.5%) of esophageal reconstruction after performing an exclusion-diversion. There were 18 cases(56.2%) of complete treatment of esophageal perforation at its initial treatment and in 14 cases(43.8%) of treatment failure at its initial treatment, patients were completely cured in the next treatment stage or died during the treatment. The cases of perforation in thoracic esophagus, complication into severe mediastinitis or sepsis and the cases of failure at initial treatment showed a statistically significant mortality rate (p<0.05). CONCLUSION: Based on the above results, it is thought that a proper choice for initial treatment choice depending on the perforation site and the prevention of serious complication such as mediastinitis or sepsis can shorten the treatment period for the patients with esophageal perforation and improve the convalescence.
Chest Pain ; Convalescence ; Diagnosis ; Drainage ; Early Diagnosis ; Empyema ; Esophageal Perforation* ; Esophagus ; Female ; Humans ; Male ; Mediastinitis ; Mortality ; Peritonitis ; Prognosis ; Sepsis ; Treatment Failure

No abstract available.
Granuloma Annulare* ; Granuloma*

No abstract available.
Aged* ; Humans ; Lentigo*

We present three neuropathologically-verified and two clinically-probable cases of Creutfeldt Jakob disease. All five had nonspecific prodromal complaints or symptoms prior to overt neurological signs and showed striking progressive neurologic deterioration, especially cognitive decline and cerebellar dysfunction. Myoclonic involuntary movements and complete decapitated states followed in one or two months. The characteristic even pathognomonic in proper clinical settings, features of electroencephalography, magnetic resonance imaging and positron emission tomography and pathologic findings are presented.
Cerebellar Diseases ; Creutzfeldt-Jakob Syndrome* ; Dyskinesias ; Electroencephalography ; Magnetic Resonance Imaging ; Positron-Emission Tomography ; Strikes, Employee

No abstract available.
Adult* ; Humans