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

Background Malaysia has achieved control of leprosy with an incidence rate of 1.1 case per 100,000 population, and a prevalence rate of 0.5 per 10,000 population since 19941. However, recently the incidence has increased with the influx of foreign workers, especially from Indonesia, Nepal and Bangladesh. In order to eliminate leprosy, certain issues of need to be addressed namely, imported cases, default from treatment and drug-resistant cases. Objectives 1. To determine the demography of leprosy patients who attended the Skin Department at Hospital Sultanah Aminah Johor Bahru (HSAJB) for treatment. 2. To determine the clinical subtypes of Hansen’s Disease, the incidence of erythema nodosum leprosum (ENL) and reversal reactions. 3. To review the management, side effects of treatment, and disease surveillance Materials and Methods A 15- year retrospective study of all new cases of Hansen’s disease attending the Skin Clinic from 1992 to 2006 was undertaken. Results A total of 166 patients were treated in the study period, of whom 74.4% were male. The median age at presentation was 37 years (range 4 to 85 years). 33% of the patients were immigrants, 34% local Malays, 27% local Chinese and 6% local Indians. Of the 166 patients, 59% had lepromatous leprosy (LL), 22% tuberculoid leprosy (TT), 9% borderline tuberculoid leprosy (BT), 8% borderline lepromatous leprosy (BL), 1% indeterminate leprosy and 1% neural leprosy. The mean bacteriological index (BI) was 1.63 ± 1.63 std deviations, and the mean morphological index (MI) was 0.77 ± 1.24 std deviations at the time of diagnosis. All patients achieved an MI of zero after three weeks of intensive therapy. 84.6 % of the patients received multiple drug therapy (MBCOMBI) in the blister pack distributed by WHO. The remainder was put on modified regimens, because of side effects or drug resistance. 43% of patients developed reactions. Of these, 21.1% had type I reaction and 22.9% had erythematous nodosum leprosum (ENL). 2 patients developed Lucio’s phenomenon at initial presentation. 53% of these developed reaction at presentation while 47% had reaction after a few months’ treatment. 9.6% of the patients developed side effects secondary to multidrug therapy which necessitated withdrawal of the drugs. The defaulter rate was 15 %. Limitations Retrospective analysis with inadequate documentation is a limitation of this study. In addition, the population studied was limited to referrals being made to the Skin Clinic, which is a tertiary referral center. Conclusions Control and elimination of leprosy still posed a problem as the majority of the foreign patients had lepromatous leprosy, and a high defaulter rate. Although leprosy in Malaysia has reached the elimination target set by the WHO, new cases will continue to be observed in small numbers due to the long incubation period of this disease.

Cutis marmorata telangiectatica congenita (CMCT) is an uncommonly reported, sporadic, congenital cutaneous disorder with persistent cutis marmorata, telangiectasia, and phlebectasia. It may be associated with a variety of other congenital anomalies, including but not limited to undergrowth or overgrowth of an involved extremity. We report a case of a baby with CMCT.