Pneumothorax after a clinical breast fine-needle aspiration of a lump in a patient with Poland's syndrome

We report the first case in the medical literature of a pneumothorax complicating fine needle aspiration cytology (FNAC) of a breast lump in a woman with a mild form of Poland's syndrome. The pneumothorax was treated conservatively. This is the first case of breast FNA-related pneumothorax seen in our clinical practice. We believe that the absence of pectoral muscles has increased the risk of this complication. We have also diagnosed an incidental screen-detected breast cancer affecting the ipsilateral breast in the same patient. We conclude that caution should be exercised when performing FNAC of breast lesions in patients with Poland's syndrome. The procedure should be preferably performed under image guidance in such patients in order to minimise the risk of this complication.     

Management of the chest-wall deformity in male patients with Poland's syndrome

The chest-wall deformity associated with Poland's syndrome was reconstructed in eight male patients 16 to 38 years old (average age 20 years). Follow-up ranged from 1 to 10 years. Two patients had custom silicone implants placed subcutaneously. In one of these patients, the edge of the implant could be seen. Three patients had transfer of an ipsilateral pedicled latissimus dorsi muscle flap with intact thoracodorsal nerve. All these patients had noticeable atrophy of the flap, and one underwent subsequent implantation of a custom silicone implant beneath the flap. Three other patients had a custom silicone implant covered immediately by a latissimus dorsi muscle flap. All four patients who had a combination of silicone implant and latissimus dorsi muscle flap had satisfactory correction of their deformity.     

Isochromosome Yq in a woman with atypical Turner's syndrome

Summary A female with 46,X,i(Ya) in all cells and a survey of previous cases of isochromosome Yq is presented.She was first admitted to hospital 15 years old due to nanismus and retarded sexual development. Gonadal dysgenesia was observed, and the diagnosis atypical Turner's syndrome was applied.The patient, who presents only a few Turner stigmata, has been given cyclic estrogen treatment since the age of 16. She has developed normal secondary sex characteristics, cyclic bleedings and has attained normal height (161 cm). Since the age of 18 the patient has suffered various periods of anemia caused by gastrointestinal hemorrhage. This hemorrhage is probably due to intestinal teleangiectasiae which are found with increased frequency in patients with Turner's syndrome.     

Poland's syndrome: correction of thoracic anomaly through minimal incisions

A method that minimizes residual scarring following Poland's syndrome correction by latissimus dorsi muscle transposition and placement of a submuscular breast implant is described. In order to reduce any resulting unsightly scarring and, in particular, eliminate the anterior thoracic scar, both a dorsal S-shape and an axillary incision were made and the muscle flap was raised. A prosthesis was then inserted and the muscle flap sutured to the anterior chest wall through an anterior incision symmetrical to the inferior border of the contralateral areola. The latter is a previously undescribed approach that produces good cosmetic results.     

Prolactinoma causing secondary amenorrhea in a woman with Ullrich-Turner syndrome

This is the case report of a girl who was diagnosed as having Ullrich-Turner mosaic at the age of 12 years. She had normal pubertal development and menarche at the age of 15 years. The patient had regular menstrual cycles for 12 months before developing secondary amenorrhea. She was started on estrogen/gestagen replacement therapy by her gynecologist. Several months later a prolactinoma was diagnosed by laboratory and imaging techiques. A second-generation dopamine agonist led to almost regular cycles. Therefore, even in patients with susceptibility to ovarian failure secondary amenorrhea necessitates thorough diagnostic investigation. Copyrightz1999S.KargerAG,Basel     

An intracranial carcinoma in a Mexican woman with Bloom syndrome

An intracranial cell squamous carcinoma was found in a 27-year-old Mexican woman with Bloom syndrome (BS), including growth retardation, sun-sensitive telangiectatic erythema, defective immunity, and increased number of mitotic chiasmata and sister chromatid exchanges. The tumour, probably originating from the inner or middle ear epithelium, was resected but the patient died a few days after surgery. There was no parental consanguinity nor Jewish or European ancestry for at least five generations; in fact, her parents were mostly indigenous people. This case represents an undescribed intracranial malignancy in BS and the third Mexican BS patient reported. The typical BS phenotype in a woman with pigmented skin challenges the contention that pigmented females are less severely affected.     

The use of sterile nursing in hematology]

By means of own experiences gathered in the treatment of 18 patients in Life Island the problems and limits of this therapy method are represented. Microbiological findings are described in detail and commented. Sterile care is an essential part of an effective therapy of haemoblastoses, malignant lymphoma, and some solid tumours, particularly in the aplastic phase.     

Triple X Egyptian woman and a Down's syndrome offspring

The 47, XXX karyotype (triple X) has a frequency of 1 in 1000 female newborns. However, this karyotype is not usually suspected at birth or childhood. Female patients with a sex chromosome abnormality may be fertile. In patients with a 47, XXX cell line there appears to be an increased risk of a cytogenetically abnormal child but the extent of this risk cannot yet be determined; it is probably lower in the non-mosaic 47, XXX patient than the mosaic 46, XX/47, XXX one. We describe a new rare case of triple X woman and a Down''s syndrome offspring. The patient is 26 years of age. She is a housewife, her height is 160 cm and weight is 68 kg and her physical features and mentality are normal. She has had one pregnancy at the age of 25 years resulted in a girl with Down''s syndrome. The child had 47 chromosomes with trisomy 21 (47, XX, +21) Figure 1. The patient also has 47 chromosomes with a triple X karyotype (47, XX, +X) Figure 2. The patient''s husband (27 years old) is physically and mentally normal. He has 46 chromosomes with a normal XY karyotype (46, XY). There are neither Consanguinity between her parent''s nor she and her husband.Open in a separate windowFigure 1Karyotype 47, XX + 21 of the daughter of Triple X syndromeOpen in a separate windowFigure 2Karyptype 47, XX + X of the Down syndrome''s mother