Bilateral absence of the patella as an isolated congenital abnormality is an extremly rare condition. Three members in a family were found to be afflicted with the condition. Clinical examination failed to reveal any stigmata of hereditary osteo-onychodysplasia.
Christianity ; Congenital Abnormalities ; Humans ; Nail-Patella Syndrome ; Patella

Melorheostosis is a rare from of hyperostosis characterized by candle greasing down along the major axis of long bones. A case of melorheostosis combined with exostosis in the fifth toe was presented here because of its rarity.
Exostoses ; Hyperostosis ; Melorheostosis ; Toes

Factitious fever has been a rare cause of fever of unknown origin. We herein report a case of a young soldier, who presented with persistent fever of unusual pattern and bullae on both palms. After numerous investigations had excluded organic diseases, factitious fever was diagnosed with measurement of the freshly voided urine temperatures and body temperatures while directly observed. Biopsy of skin lesions revealed friction blister. Early recognition of this cause of fever is needed to avoid the unnecessary investigation and prolonged hospitalization.
Biopsy ; Blister ; Body Temperature ; Factitious Disorders ; Fever of Unknown Origin ; Fever* ; Friction ; Hospitalization ; Humans ; Military Personnel ; Skin

OBJECTIVE: Catechol-O-methyltransferase(COMT) is an important enzyme that inactivates biologically active or toxic catechols. Abnormal catecholamine transmission has been implicated in the pathogenesis of schizophrenia and bipolar disorder. Polymorphism(Val/Met) of the COMT gene was shown to determine high-and low-activity alleles of the enzyme. This study was designed to investigate the association between COMT gene polymorphism and schizophrenia and bipolar disorder in a Korean population. METHOD: COMT gene were genotyped with polymerase chain reaction and restriction enzyme NlaIII in 128 patients with schizophrenia, 110 with bipolar disorder, and 176 controls. RESULTS: 1) The distribution of the COMT genotype in schizophrenic patients with Val/Val, Val/Met, Met/Met were 76(59.4%), 43(33.6%), 9(7.0%), in bipolar disorder patients were 63(57.3%), 35(31.8%), 12(10.9%), and in the controls were 83(47.2%), 79(44.9%), 14(8.0%). The allele frequencies of the COMT gene in schizophrenic patients with Val and Met were 195(76.2%), 61(23.8%), in bipolar disoreder patients were 161(73.2%), 59(26.8%), and in the controls were 245(69.6%), 107(30.4%). 2) There were no differences in genotype distribution and allele frequencies of COMT gene polymorphism among the 3 groups. Neither patients with schizophrenia nor bipolar disorder differed in the genotype and allelic frequencies from the controls. CONCLUSION: These results suggest COMT gene polymorphism is not causally related to the development of schizophrenia and bipolar disorder in a Korean Population.
Alleles ; Bipolar Disorder* ; Catechol O-Methyltransferase* ; Catechols ; Gene Frequency ; Genotype ; Humans ; Polymerase Chain Reaction ; Schizophrenia*

Infantile hypertrophic pyloric stensosis (IHPS), which occurs three of 1,000 live births, is a major cause of nonbilious vomiting of early infancy, but its etiology and pathogenesis are still obscure. The operation of pyloromyotomy as described by Ramstedt in 1912 remains the standard of care for the treatment of IHPS. From January 1990 to July 1997, 64 infants with IHPS were reviewed at department of Pediatric Sursery, Yeungnam University Hospital. The ratio of male to female was 7:1, and the most prevalent age group was between 2 weeks and 8 weeks (81.2%). There were 37 (57.8%) first born babies among total 64 infants. The body weight percentile at admission was lower than 50 percentile in all 64 cases. Onset of symptoms was predominantly between 2week and 4weeks in 23 cases (35.9%). All had a history of nonbilious vomting, generally projectile in nature. In the measured serum electrolytes, hypokalemia was noted in 14 cases (21.9%), hypochloremia was observed in 26 cases (40.6%). In the preoperative ultrasonography, the average muscle thickness, diameter, and length of the pylorus were 6.3mm, 12.3mm, and 17.8mm, respectively. A total of thirteen associated anomalies were noted in twelve patients. All 64 cases were treated with Fredet-Ramstedt pyloromyotomy. There were postoperative complications of wound infection in 3 cases. Intermittent nonprojectile vomiting was presented in 13 cases (20.3%) after operation, but one of them was relieved in 13 days and the rest were relieved within one week by adjustment of oral intake.
Body Weight ; Electrolytes ; Female ; Humans ; Hypokalemia ; Infant ; Live Birth ; Male ; Postoperative Complications ; Pyloric Stenosis, Hypertrophic* ; Pylorus ; Standard of Care ; Ultrasonography ; Vomiting ; Wound Infection

Basal cell carcinoma (BCC) is the most common skin cancer of humans. The incidence of BCC is closely correlated with sun exposure, as well as older age. Because of this, BCCs are frequently found on sun-exposed areas of fair-skinned, older individuals. The axilla is one of the sun-protected sites where BCC rarely develops. We herein report three unusual cases of primary BCC which arose from the axilla.
Axilla* ; Carcinoma, Basal Cell* ; Humans ; Incidence ; Skin Neoplasms ; Solar System

Syphilitic aortitis, passing out of our mind, is the most common systemic manifestation of late syphilis and is more typically manifestated 10 to 30 years afterward. This diagnosis has been made less frequently in recent decades than in the past, because of public awareness of syphilis and screening program. Treponema pallidum lodge within vasa vasorum, especially ascending aorta cause the histologic changes, which are responsible for the three major forms of symptomatic cardiovascular syphilis, including aortic insufficiency, coronary ostial stenosis, and aortic aneurysm. We experienced a case of syphilitic aortitis with aortic insufficiency and aortic aneurysm in a 48-year-old man presented with progressive dyspnea. Echocardiography, chest CT, and later surgical correction were performed and surgical specimen revealed the histologic finding consistent with syphilitic aortitis. We report this case with a review of the literature.
Aorta ; Aortic Aneurysm* ; Aortitis ; Constriction, Pathologic ; Diagnosis ; Dyspnea ; Echocardiography ; Humans ; Mass Screening ; Middle Aged ; Syphilis ; Syphilis, Cardiovascular* ; Tomography, X-Ray Computed ; Treponema pallidum ; Vasa Vasorum

A 10-month-old male patient was seen with a nodular lesion on his left upper arm which developed several months after BCG vaccination. Physical examination revealed a bean sized, irregular surfaced, erythematous pustular nodule on the left upper arm at a place different from the vaccination site. Histopathologic examination of the nodule on the left upper arm showed tubercles composed of mononuclear cells, epithelioid cells and langhans type giant cells in the dermis. Caseation necrosis within the typical tubercles was noted. Prominent improvement of the lesion was observed 4 months after oral medication with isoniazid and rifampicin.
Arm ; Dermis ; Epithelioid Cells ; Giant Cells, Langhans ; Humans ; Hypogonadism ; Infant ; Isoniazid ; Male ; Mitochondrial Diseases ; Mycobacterium bovis ; Necrosis ; Ophthalmoplegia ; Physical Examination ; Rifampin ; Tuberculosis, Cutaneous ; Vaccination

The skin over the nose is less mobile for primary closure of defects. In addition to skin graft and secondary intention healing, there are various local flap techniques and their modifications for the reconstruction of nasal defects. Imprecise engineering of wound repair methods and contracture can lead to twisting of the nose and distortion of surrounding anatomic structures such as the nasal ala and paranasal sulcus. The skin defects on the nasal dorsum were reconstructed with a modified bilateral rombic flap. In our case, there were no significant complications and the final result was satisfactory in both functional and cosmetic aspects. Through our experience, we can confirm that the modified bilateral rhombic flap can reconstruct defects on the center area of the nasal dorsum effectively and in a single stage.
Contracture ; Intention ; Nose ; Skin ; Transplants ; Wounds and Injuries

Liposarcoma is the second most common soft tissue sarcoma next to malignant fibrous histiocytoma and occurs almost exclusively in adults. It is thought to originate from primitive mesenchymal cells rather than from mature adipose tissue. Most liposarcomas usually occur in the deep soft tissue of the extremities and the retroperitoneum, and rarely occur in the cutaneous or subcutaneous tissue. We report a case of an atypical lipomatous tumor in a 63-year-old male, who presented with an asymptomatic, subcutaneous mass on his right axilla.
Adipose Tissue ; Adult ; Axilla ; Extremities ; Histiocytoma, Malignant Fibrous ; Humans ; Liposarcoma ; Male ; Middle Aged ; Sarcoma ; Subcutaneous Tissue