Accidents, Traffic ; Diagnosis ; Facial Injuries ; Female ; Head ; Humans ; Incidence ; Inpatients ; Jeollanam-do ; Lacerations ; Male ; Mandibular Fractures ; Neck ; Postoperative Complications ; Social Environment ; Surgery, Oral ; Violence

Primary amenorrhea due to intrasella arachnoid cyst is a very rare disease and require careful and frequent evaluation because may produce intracranial hemorrhage, elevated intracranial pressure and rapid expansion. Surgical intervention is needed only when visual disturbance, hypopituitarism or enlarging lesion is shown. Thus, we present a case of primary amenorrhea due to intrasella arachnoid cyst which was resected through the transsphenoidal approach.
Amenorrhea ; Arachnoid* ; Female ; Hypogonadism* ; Hypopituitarism ; Intracranial Hemorrhages ; Intracranial Hypertension ; Rare Diseases

Telomerase activity is usually detected in most tumor tissues but not in normal tissues. Recently, there is increasing evidence that telomerase activity is associated with cell proliferation without malignancy, whereas there is little information about telomerase activity and its relationship with cell proliferation in chronic hyperproliferative skin diseases. Thus, we studied telomerase activity in skins from 10 patients with psoriasis and compared telomerase activity with the expression of Ki-67, a proliferation marker, using immunohistochemical staining. The effect of retinoic acid on the telomerase activity in HaCaT cells was also evaluated. Telomerase activity was detected in 7 (70%) of 10 lesional skins of psoriasis and none of the nonlesional skin. Telomerase activity in lesional skin was significantly associated with Ki-67 labelling index. Retinoic acid treatment on HaCaT cells inhibited telomerase activity, which correlated with inhibition of cell proliferation by the agent. The results of our study represent another example that shows telomerase activity correlates with cellular proliferation. Further studies on the regulation of the telomerase are needed to understand the cellular factors involved in controlling telomerase activity.
Cell Division/drug effects ; Cell Line ; Enzyme Inhibitors/*pharmacology ; Human ; Ki-67 Antigen/*analysis ; Psoriasis/*enzymology ; Skin/*enzymology ; Telomerase/antagonists & inhibitors/*metabolism ; Tretinoin/*pharmacology

We describe a 58-year-old woman who was incidentally found to have gastric and colonic polyposis, hypoalbuminemia, cutaneous hyperpigmentation and onychodystrophy (Cronkhite-Canada syndrome). Histology of polyps from the stomach showed features of juvenile or retention type (hamartomatous) polyps with Helicobacter pylori (H. pylori) infection. The large pedunculated colonic polyps showed hamartomatous polyps with adenomatous component and polypectomy was performed. After the treatment with H. pylori eradication and omeprazole, the gastric polyposis, hypoalbuminemia and anemia regressed, and endoscopic polypectomy of gastric polyps were performed. After the continuous use of omeprazole for 14 months, the patient showed complete resolution of clinical features of Cronkhite-Canada syndome. The experience of this case suggests that eradication of H. pylori and proton pump inhibitor treatment might be considered in patients with gastric polyposis combined with Cronkhite-Canada syndome.
Anti-Ulcer Agents/*therapeutic use ; Colonic Polyps/complications/microbiology/pathology ; Female ; Helicobacter Infections/complications/*drug therapy ; *Helicobacter pylori ; Humans ; Hyperpigmentation/pathology ; Middle Aged ; Nails, Malformed/pathology ; Omeprazole/*therapeutic use ; Polyps/*complications/microbiology/pathology ; Proton Pumps/antagonists & inhibitors ; Stomach Neoplasms/*complications/microbiology/pathology ; Syndrome

The term MYH9-related disorders indicates a group of autosomal dominant illnesses, formerly known as May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome and Epstein syndrome, caused by mutations of MYH9, the gene encoding for the heavy chain of non-muscle myosin IIA (NMMHC-IIA). We experienced a family with macrothrombocytopenia without leukocyte inclusion. A 5-year-old girl was found to have macrothrombocytopenia incidentally. Her father also had macrothromtocytopenia, but had been suffering from hearing loss and chronic renal failure. Meticulous search by light and electron microscopy failed to detect leukocyte inclusions. To our knowledge, these cases seem to be the first description of autosomal dominant Epstein giant platelet syndrome in Korea.
Bernard-Soulier Syndrome* ; Child, Preschool ; Fathers ; Female ; Hearing Loss ; Humans ; Kidney Failure, Chronic ; Korea ; Leukocytes ; Microscopy, Electron ; Nonmuscle Myosin Type IIA

Fibrodysplasia ossificans progressiva is a rare hereditary disorder characterized by progressive heterotopic ossifica-tion in muscle and connective tissue, with few reported cases affecting the head and neck region. Although plain radiographic findings and computed tomography features have been well documented, limited reports exist onmagnetic resonance findings. This report presents 2 cases of fibrodysplasia ossificans progressiva, one with limited mouth opening due to heterotopic ossification of the lateral pterygoid muscle and the other with restricted neck movement due to heterotopic ossification of the platysma muscle. Clinical findings of restricted mouth opening or limited neck movement, along with radiological findings of associated heterotopic ossification, should prompt consideration of fibrodysplasia ossificans progressiva in the differential diagnosis. Dentists should be particularly vigilant with patients diagnosed with fibrodysplasia ossificans progressiva to avoid exposure to diagnostic biopsy andinvasive dental procedures.

Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare, benign congenital hamartoma involving the eccrine sweat duct. Histologically, the distinctive feature of PEODDN is the existence of keratinous plugs that represent cornoid lamellae overlying dilated infundibula of eccrine ducts. Lesions are typically asymptomatic papules or plaques that are located on the distal extremities, including palms, fingers and soles. We report a case of a 7-year old girl with PEODDN who exhibited lesions on the left knee and the perianal region.
Child ; Extremities ; Female ; Fingers ; Hamartoma ; Humans ; Knee* ; Nevus* ; Sweat

Homozygous protein C deficiency is a rare hereditary coagulation disorder that occurs most often in childhood and is characterized by widespread thrombosis of capillaries and venules, abrupt onset of ecchymoses and necrosis. The hematological feature corresponds with disseminated intravascular coagulation. Protein C is a natural anticoagulant and also has important anti-inflammatory activity. For confirmation of homozygous protein C deficiency, the infant should have undetectable protein C activity and both parents should be heterozygous for protein C deficiency. We experienced a case of purpura fulminans in the newborn infant in whom we identifed homozygosity for familial protein C deficiency. Fresh frozen plasma for replacement of protein C, early debridement and full-thickness skin graft induced a remission. Administration of warfarin was used to prevent recurrence of attacks. This report emphasizes the need for early diagnosis and adequate replacement therapy in patient with purpura fulminans.
Blood Coagulation Disorders, Inherited ; Capillaries ; Debridement ; Disseminated Intravascular Coagulation ; Early Diagnosis ; Ecchymosis ; Humans ; Infant ; Infant, Newborn ; Necrosis ; Parents ; Plasma ; Protein C Deficiency* ; Protein C* ; Purpura Fulminans* ; Purpura* ; Recurrence ; Skin ; Thrombosis ; Transplants ; Venules ; Warfarin

BACKGROUND: Varicose vein is the most common venous disease of the lower extremities. The treatment of varicose vein is commonly performed for cosmetic improvement, although most patients are symptomatic as well. Sclerotherapy is a useful adjunct to large vein surgery as well as a highly effective primary treatment for telangiectasia and reticular vein. OBJECTIVE: The purpose of this study was to elucidate the clinical characteristics of varicose vein of Korean and to evaluate the efficacy and the side effect of sclerotherapy. METHODS: We reviewed 100 outpatients treated by sclerotherapy for varicose vein at department of dermatology of Pusan National University Hospital from January, 1999 to December, 2000. RESULTS: The results obtained were summarized as follows; 1) The distribution of age was the first 5th decade(44%), followed by 4th decade and 6th decade. The median age was 47.6 years-old. 2)The duration of illness was less than 5 years in 34 patients(34%), and 6 to 10 years in 25 patients(25%). 3) Presumed etiologic factors were occupations requiring long period of standing in 43 patients(43%), and pregnancy in 28 patients(28%). 4) The aims in treating varicose vein were cosmetic problem(88%), pain(47%) and fatigue(32%). 5) According to the CEAP classification, the most common type of varicose vein was C1sEpAs(46%). 6) The frequency of injections were 2 times in 31 patients(31%), 3 times in 30 patients(30%), and one in 22 patients(22%). 7) Most of the patients were satisfied with the results and the clinical efficacy in varicose vein was more than moderate clearance in 64 patients(64%). Transient adverse effects were observed in a few patients. CONCLUSION: Sclerotherapy is a simple, safe, and cosmetically acceptable alternative treatment for varicose vein and can be easily performed in outpatient fields.
Busan ; Classification ; Dermatology ; Humans ; Lower Extremity ; Occupations ; Outpatients ; Pregnancy ; Sclerotherapy* ; Telangiectasis ; Varicose Veins* ; Veins

Keratosis follicularis squamosa(Dohi) is an acquired keratinizing disorder , which is particularly common among Japanese and rarely reported in other countries . It is characterized by multiple small brownish atrophic patches with follicular plug and collarette scales on the trunk and thighs . The scaly patches, which look like lotus leaves on the water as described by Dohi in the first report, is very characteristic. We report a case of keratosis follicularis squamosa(Dohi) in a 39-year-old woman, who showed a clearance of the skin lesion after 4-week minocycline administration.
Adult ; Asian Continental Ancestry Group ; Darier Disease* ; Female ; Humans ; Keratosis* ; Lotus ; Minocycline ; Skin ; Thigh ; Water ; Weights and Measures