Mixed gonadal dysgenesis with 45,X/46,X,idic(Y)/46,XY,idic(Y) karyotype.

To present the new karyotype with mixed gonadal dysgenesis, the aetiologic approach and difficulties in genetic counseling in mosaic sex chromosome disorders. We report a fourteen-year-old boy presented with slightly ambigious genitalia. Cytogenetic and fluorescence in situ hybridization investigations were carried out on his peripheral lymphocytes. As a result, three cell lines, 45,X, 46,X,idic(Y)(q11.2) and 46, XY were observed. A markedly higher percentage of Y-containing cells was observed in the blood (68%), which was not considered to be the major reason why the case did not have distinct ambiguous genitalia. We suggest that study of cytogenetic and molecular mosaicism involving sex chromosomes may help to further unravel the mysterious process in mixed gonadal dysgeneic patients.

Calcific tendinitis of the supraspinatus tendon in children.

We present the case of a 13-year-old girl with painful calcific tendinitis of the supraspinatus tendon of the left shoulder. The pathologic finding was the presence of a small calcium deposit within the supraspinatus tendon. Pediatricians should be aware of this entity in shoulder pain in children.

Isolated juvenile xanthogranuloma of clitoral connective tissue.

Juvenile xanthogranuloma is a frequent childhood tumor and the only common non-Langerhans' cell histiocytosis. We present an unusual case of juvenile xanthogranuloma (JXG) of clitoral connective tissue in a 6-week-old girl.

[Tumoral calcinosis in childhood]. / Die Kalkgicht im Kindesalter.

In 1943, Inclan described for the first time tumoral calcinosis as a disease of its own. More than 80 examples of these lesions were described in the literature under different names. Tumoral calcinosis is a rare disease characterized by massive deposition of calcium phosphate in the soft tissue of large joints pathogenesis is unclear. The microscopic characterization shows a complex composition of phospholipids with deposits of hydroxyapatite. An infiltration of the surrounding tissue with giant cells, histiocytes and lymphocytes were often found. Complete excision of the tumor is the treatment of choice.

Concomitant pilomatrixoma and peripheral schwannoma in a child.

BACKGROUND: Peripheral schwannomas and pilomatrixoma are rare clinical features in childhood. The concomitant presence of these tumors in childhood are not described yet. PATIENTS: We describe the first case of a concomitant peripheral benign schwannoma and pilomatrixoma located at the head in a 10-year-old female patient. METHOD: Case Report.

45,X/46,X,dic(Y)-Mosaicism in the newborn.

We report on a phenotypically male newborn with 45,X/46,X,dic(Y)-mosaicism. Right-sided inguinal hernia was surgically corrected. Histological examination of the tissue revealed an ambiguously differentiated gonad on this side. The clinical, cytogenetic, and histological results are described and the prognosis and clinical management of these patients are discussed.

Combined pentalogy of Cantrell with tetralogy of Fallot, gallbladder agenesis, and polysplenia: a case report.

A male newborn with pentalogy of Cantrell, tetralogy of Fallot, agenesis of the gallbladder, and polysplenia died at 3 days of age. Polysplenia was not previously reported in this association.

Retrieval of an upper third molar from the infratemporal space.

A case of dislocation of a maxillary third molar into the infratemporal fossa is described. The diagnostic and therapeutic problems are discussed. The tooth was removed through an osseous window that was made in the posterior wall of the maxillary sinus. The healing was uncomplicated, without maxillary sinusitis, and the reduced ability to open the mouth returned to normal. A slight diplopia persisted.

Tumoral calcinosis of the gluteal region in a child: case report with overview of different soft-tissue calcifications.

Tumoral calcinosis is a distinct clinical and histologic entity that is characterized by a large deposition of calcium that resembles a neoplasm and is found predominantly in adolescents and young adults in the periarticular tissues of large joints. The authors describe the clinical presentation of a 15-year-old boy admitted at our pediatric day-surgery center for surgical management of tumoral calcinosis of the left gluteal region. Complete surgical excision is the treatment of choice.

[New results on ageing of connective tissue (author's transl)]. / Neue Befunde zur Bindegewebsalterung.

Some new results on ageing of connective tissue are demonstrated, regarding not only mesenchymal, but also parenchymal organs of human and rat (both sexes). These results show that ageing of connective tissue is more a dynamic process (with measurable metabolic parameters of the several connective tissue cells and their products) than a passive or so-called degenerative connective tissue process. The bradytrophy concept of connective tissue cannot be accepted any longer. Then connective tissue cells can produce metabolic rates of the same level like parenchymal cells. The different organs possess partly common basic processes partly differences in connective tissue ageing, dependent on the composition and patterns of proteoglycans resp. of GAG and collagen types, furthermore dependent on localisation, structure and function. The results on ageing of connective tissue are useful for better understanding of ageing processes of parenchymal organs. Then their ageing is influenced essentially by the ageing of the own connective tissues. The turnover, more than the number of mesenchymal and parenchymal cells, decreases with ageing. More old than young cells seem to exist in old tissues and organs. The performance of ageing connective tissue cells can be constant or increase or decrease. Many mesenchymal and parenchymal organs develop a so-called "ageing-fibrosis".

Capsular contracture after cosmetic breast implant surgery in Denmark.

The authors investigated the association between the occurrence of capsular contracture and implant and patient characteristics. All women with breast implants from 1977 to 1997 were identified from the files of two private plastic surgery clinics in Denmark. Information on implant and patient characteristics, surgical procedure, and complications was obtained through medical records and self-administered questionnaires. Of 754 women (1,572 implants), average age at implantation was 32 years. Implant types were silicone double lumen, textured, 31.2%; silicone single lumen, textured, 27.8%; silicone single lumen, smooth, 24.5%; silicone double lumen, smooth, 0.8%; and other or missing, 15.7%. Placement was submuscular for more than 90% of implants. Capsular contracture occurred in 7.9% of implanted breasts, on an average of 621 days postoperatively, with 51.6% being bilateral. Overall, 66.1% of capsular contractures were recorded within the first 12 months postoperatively, and 79.0% were recorded within 24 months. Double-lumen implants were associated with a significantly (p < 0.01) reduced occurrence of capsular contracture. In summary, capsular contracture typically occurs within the first 2 years of implantation. Host factors may be important because more than half the capsular contractures in the current study were bilateral. Occurrence of capsular contracture did not appear to be associated with implant surface or placement, occurrence of local complications, or patient characteristics, although these findings should be interpreted cautiously.