Cutis laxa (CL) is a rare inherited or acquired connective tissue disorder in which the skin becomes inelastic and hangs loosely in folds. Autosomal dominant, autosomal recessive and X-linked recessive forms have been described. In both the inherited and acquired types, the internal organs are frequently involved. We describe a 2-year-old girl with congenital cutis laxa, presenting with multiple xanthogranulomata.

Introduction The efficacy of methotrexate in the treatment of psoriasis is well established. However, high-quality data concerning its efficacy and side effects are sparse. The initial administration dose differs among various centres. In Hospital Sultanah Aminah, Johor Bahru, methotrexate is initiated at a starting dose of 0.3mg/kg body weight weekly and is continued until significant clinical response before being tapered to the lowest maintenance dose. The aim of this study is to determine the profile of our local psoriasis patients treated with methotrexate, their response to treatment, their tolerability and the side-effects experienced. Methods This is a retrospective study of all patients who were on methotrexate from January 2005 to December 2008 at the Department of Dermatology, Hospital Sultanah Aminah, Johor Bahru. Results Out of a total of 128 patients, 111 were started on an initial dose of methotrexate of between 15mg/week to 25mg/week. The mean age was 43 years old. 56.8% (63) were males and 43.2% (48) females. The mean body weight was 66 kg, ranging from 39 kg to 103 kg. Methotrexate was indicated for moderate to severe psoriasis in 77.5% (86), psoriatic arthropathy in 7.2% (8) and 15.3% (17) for both indications. Methotrexate was started as a first line in 57.7% (64) of patients, whereas, 19.8% (22) had received phototherapy, 14.4% (16) acitretin and 7.2% (8) cyclosporine in the past prior to being given methotrexate. Good response was noted in 79.3%, (88) of patients, 17.7% (19) moderate and 2.7% (3) had a poor response. Side-effects were noted in 19.8% (22) of patients within the first 6 months, 12.6% (14) due to raised liver enzymes, 3.6% (4) to bone marrow suppression, 2.7% (3) to gastro-intestinal symptoms and 0.9% (1) to central nervous system symptoms. Methotrexate was stopped due to adverse events in 15.3% (17) of patients. Conclusion Methotrexate is effective in the treatment of psoriasis but is limited by side effects, especially raised liver enzymes. However, most of the side effects are mild and reversible on stopping the drug.

Aplasia cutis congenita (ACC) is a rare anomaly presenting with absence of skin. It was first reported by Cordon in 1767. About 70% of cases manifests as a solitary defect on the scalp, but sometimes it may occur as multiple lesions. The lesions are typically well demarcated, non-inflamed, and they range in size from 0.5cm to 10cm. ACC may be circular, oval, linear, or stellate in configuration. At birth, lesions may appear as scars or ulcers1. They may appear as parchment-like scars with alopecia. Most lesions occur on the scalp vertex just lateral to the midline, but defects may also occur on the face, the trunk, or the limbs, sometimes symmetrically. The depth may involve only the epidermis and the upper dermis, resulting in minimal alopecic scarring, or the defect may extend to the deep dermis, the subcutaneous tissue, or rarely the periosteum, the skull, and the dura. ACC is most often a benign isolated defect, but it can be associated with other physical anomalies or malformation syndromes. Frieden classified them into 9 groups based on the number and presence or absence of other anomalies1. Nearly 86 percent belong to the first group with a solitary lesion. We report a case of Aplasia Cutis Congenita secondary to maternal exposure to carbimazole during pregnancy.

Sarcoidosis is a chronic systemic disorder of unknown etiology, characterized histopathatologically by non-caseating, epithelioid granulomatous infiltration in various organs.1,2 Cutaneous sarcoidosis is also known as a dermatologic masquerader because the lesions can exhibit many different morphologies.3 We report a patient who was initially diagnosed as having tuberculoid leprosy based on histological findings. He was treated with multi-drug therapy for 18 months without clinical improvement. In addition, he had left panuveitis and mediastinal lymphadenopathy.

Forty-five patients with primary neoplasm of the spine, disgnosed and operated at Dept. of Orthopedic Surgery, Seoul National University Hospital, from 1970 to 1988, were reviewed in an attempt to analyze the incidence of the primary spine tumors and effectiveness of surgical treatment. Mean follow-up was 2.5 years. Among 29 benign tumors, 7 cases of osteoid osteoma, 6 cases of giant cell tumor, 4 cases of osteoblastoma and aneurysmal bone cyst, and 2 cases of fibrous dysplasia and osteochondroma, and others were identified. Of 16 malignant tumors, 6 cases of eosinophilic granuloms, 4 cases of chordoma, 3 cases of solitary plasmacytoms, and others were noted. 17 cases occurred in the anterior compartment, 18 cases in the posterior compartment, and 10 cases involved both compartments. Surgical treatment consisted of complete or near complete excision, decompression, and additional stabilization procedure when the stability of the vertebral column was compromised. Stablization was achieved either by fusion, strut bone graft, or by additional Zielke, Cotrel-Dubousset, or Luque-Harringtion instrumentation. The results were astisfactory in most of the cases with benign tumors except cases of giant cell tumor. The results in malignant tumor were satisfactory especially in eosinophilic granuloma and solitary plasmacytoma with respects to symptoms and survival, and this fact was attaibuted to good response to adjuvant chemotherapy and radiation therapy. Recent application of Cotrol-Dubousset or Zielke instrumentation after agressive resection made early ambulation a clinical reality.
Aneurysm ; Bone Cysts ; Chemotherapy, Adjuvant ; Chordoma ; Decompression ; Early Ambulation ; Eosinophilic Granuloma ; Eosinophils ; Follow-Up Studies ; Giant Cell Tumors ; Humans ; Incidence ; Orthopedics ; Osteoblastoma ; Osteochondroma ; Osteoma, Osteoid ; Plasmacytoma ; Seoul ; Spine ; Transplants

There have been numerous hypotheses about the pathogenesis of idiopathic scoliosis, but it is still unclear. There are some reports that abnormalities of contractile proteins may play a role in the pathogenesis of idiopathic scoliosis. The purpose of this report is to study the quantitative abnormalities of contractile proteins in muscles and nonactivated and activated platelets, and to determine whether or not the abnormalities in contractile proteins may play a role in the pathogenesis of idiopathic scoliosis. The materials were 21 idiopathic scoliosis patients aged from 13 years to 28 years(average 19.2 years) and 20 persons aged from 17 years to 25 years(average 20.1 years) as a control group. The electrophoretic analysis(SDS-PAGE method) was done on platelets both unstimulated and stimulated with thrombin and also on proteins of paraspinal muscles and gluteus maximus of idiopathic scoliosis patient and paraspinal muscles of control group. The results are as follows. 1. The myosin/actin ratios of triton-insoluble fractions to paraspinal muscles in convex sides of main curvatures of scoliosis patients(1.69±0.81) were significantly decreased compared to those of concave sides(2.55±1.28), gluteus maximus muscles(2.56±1.70) and control group(2.61±1.01). 2. There were no significant differences between scoliosis group and control group in the actin/myosin ratios of triton-insoluble fractions of the platelets both nonactivated and activated by thrombin. In conclusion, abnormalities of contractile protein in paraspinal muscles of convex side may play a role in the pathogenesis of idiopathic scoliosis, rather than abnormalities of systemic contractile protein.
Actins ; Blood Platelets ; Contractile Proteins ; Humans ; Muscles ; Myosins ; Paraspinal Muscles ; Scoliosis ; Thrombin

Metaphyseal Chondrodysplasia is a disease characterized by metaphyseal ossification leading to shortening of stature. The extremities, especially lower, and mainly affected, resulting in a disproportionate drarfing which spares the trunk. The first case was reported in a patient with irregular metaphysis of lower extremities and hands, and severe shorteness of stature by Murk Jansen in 1934. A milder form of Metaphyseal Chondrodysplasia was noted in 1949 by Schmid, which is more common and transmitted in autosomal dominant. Mckusick recently reported another form of Metaphseal Chondrodysplasia, and other types were reported, but they are extremly rare, and of little clinical significance. In the Schmid type, patient is normal at birth, but characteristically shortness of stature, bowed leg, and waddling gait developed at biginning of walking. Ali labratory findings including serum calcium level, phosphorous, alkaline phosphatase, renal function test is normal in Metaphyseal Chondrodysplasia. The most difficult differential diagnosis is Vitamin D-resistant rickets in clinical and x-ray findings. The only treatment is careful observation and properly timed corrective surgery. Authors experienced on case of Schmid type of Metaphyseal Chondrodysplasia which had been treated with Vitamin D under impression of rickets for 1 year before the case was consulted to Orthopedic Department. Proximal tibial osteotomy and subtrochanteric valgus osteotomy were performed for the correction of genu varum and coxa vara deformity with satisfactory results for one year follow up.
Alkaline Phosphatase ; Calcium ; Congenital Abnormalities ; Coxa Vara ; Diagnosis, Differential ; Extremities ; Follow-Up Studies ; Gait ; Genu Varum ; Hand ; Humans ; Leg ; Lower Extremity ; Orthopedics ; Osteotomy ; Parturition ; Rickets ; Rickets, Hypophosphatemic ; Vitamin D ; Walking

No abstract available in English.
Arthritis, Infectious ; Dislocations ; Hip

Luque introduced new posterior spinal instrumentation by segmental sublaminar wiring for spinal deformity in 1976. This system initially developed for the treatment of paralytic scoliosis, but now its application was extended to treatment of other types of scolisis, spinal fractures and spondylolysthesis. Advantages of this system in scoliosis are better correction force and secure internal fixation enabling early ambulation without external support. Disadvantages include longer operation time, possibilities of epidural bleeding and dural laceration. Luque instrumentation in thoracic and lumbar spine fracture is an effective means of obtaining following goals: provide reduction, maintenance of alignment, restoration of stability, prevention of deformity, low pseudarthrosis rate and early mobilization without external support. Luque instrumentation were carried out in 5 cases at Dept. of O.S. at SNUH from Oct. 1983 to Feb. 1984 with excellent results. The average follow-up period was 7.4 months and there was no complication. Two cases of unstable thoracic and lumbar spine fractures were treated with Luque instrumentation with fusion. The use of double sublaminar wiring with Luque rods, two levels above and two levels below on area of fracture provided early stabilization to allow rehabilitation without external immobilization. Three cases of paralytic scoliosis underwent Luque instrumentation by a modification of the Galveston technique with fusion. Average preoperative curve was 110°(ranged from 101° to 126°). Immediate postoperative correction was 58.7°(46.6%) and average 7 months-following result was 56.3°(48.3%). Operation time averaged 6hr 7min and blood loss was averaged 12 pints. Those patients required instrumentation from the pelvis to middorsal segment, in an effort to control the curve and associated pelvic tilting. In early follow-up the author obtained remarkable correction in paralytic curves, and the pelvic obliquity were well corrected with a pelvis and provid ing with better sitting balance.
Congenital Abnormalities ; Early Ambulation ; Follow-Up Studies ; Hemorrhage ; Humans ; Immobilization ; Lacerations ; Pelvis ; Pseudarthrosis ; Rehabilitation ; Scoliosis ; Spinal Fractures ; Spine

This study was performed by the necessity of objective information upon change of pulmonary function after surgical correction of spinal deformity in scoliotic patients. It is relatively well known that deformity of spinal curvature affects the pulmonary functions, especially lung volume or vital capacity, due to restriction of the thoracic cage. It is carried out the comparative study between preoperative and postoperative pulmonary functions in thirty two cases of thoracic scoliosis, all who were treated with Harrington instrumentation and posterior fusion at Department of Orthopedic Surgery, Seoul, National University Hospital from 1969 to 1983. The age distribution of patients was from 6 years to 21 years and female was more involved two times than male. Following observations were obtained: Following observations were obtained: 1. Pre-and postoperative angle of scoliosis were 77.5° and 39.2° with correction rate of 48.2%. 2. Preoperative vital capacity was 64.2% and postoperative value was 74.8%, 2 years and 2 months after operation in average. 3. Postoperative vital capacity was significantly increased compared to preoperative value in patients with scoliosis (p<0.05). 4. Ther was no definite pattern of obstructive pulmonary disease in patients with scoliotic deformity.
Age Distribution ; Congenital Abnormalities ; Female ; Humans ; Lung ; Lung Diseases, Obstructive ; Male ; Orthopedics ; Respiratory Function Tests ; Scoliosis ; Seoul ; Spinal Curvatures ; Vital Capacity