1/11. Feminizing sertoli cell tumor associated with peutz-jeghers syndrome.peutz-jeghers syndrome (PJS) is an autosomal dominant disorder characterized by the association of mucocutaneous pigmentation and multiple gastrointestinal hamartomatous polyps and with an increased risk of developing gonadal sex tumors besides other malignancies. We describe a 7 1/2 year-old boy with PJS and bilateral gynecomastia. He has had buccal pigmentation since 1.5 years and had been operated for rectal polyp excision at 3.5 years. On physical examination, his height was at the 90th percentile, and his height age and bone age were 9 and 10 1/2 years, respectively. Increased melanotic buccal pigmentation of the lips and bilateral gynecomastia were noticed. Both of the testes were firm, non-tender and smooth on the surface, and each measured 8 ml. Hormonal measurements were all in the prepubertal range. testis ultrasonography showed bilateral hyperechogenic areas within the glands. When he was operated for invagination and an ileum segment full of polyps was resected, bilateral testicular biopsies were also performed. Histopathological evaluation of the testes revealed bilateral multicentric benign Sertoli cell tumors. The aromatase inhibitor testolactone was started to slow skeletal maturation. On the basis of this and previous reports, PJS associated with sex-cord tumors is increasingly recognized in males as well as in females.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
2/11. Bilateral testicular adrenal rests after bilateral adrenalectomies in a cushingoid patient with von hippel-lindau disease.We report a case of bilateral testicular masses in a 25-year-old man with von hippel-lindau disease presenting with cushingoid symptoms. His medical history was significant for bilateral adrenalectomies secondary to pheochromocytomas, and he began steroid therapy at that time. After exhaustive endocrinologic, radiographic, and physical examinations, the testicular masses were postulated to be active adrenal rest tissue. Bilateral testicular venous sampling found elevated glucocorticoids that were responsive to dexamethasone suppression, which confirmed the testicular masses as testicular adrenal rests without the need for surgical intervention. Successful conservative management consisted of appropriate steroid manipulation and radiographic evaluation and resulted in the resolution of presenting symptoms, a decrease in size of the bilateral testicular masses, and testicular conservation in this young man.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
3/11. yellow nail syndrome: a perspective.The yellow nail syndrome is an unusual lymphangitic disorder classically characterized by the presence of nail discoloration, lymphedema and pleural effusion. Since the recognition of the significance of these associated physical findings, four cases have been diagnosed at our institution in the last six years. This suggests that the syndrome may not be as rare as previously reported in medical literature. More often it may remain unrecognized in the absence of the classic triad of physical findings. To heighten awareness of this disorder, we describe our most recent patient diagnosed with YNS and provide a review of the current medical literature.- - - - - - - - - - ranking = 0.25958616621583keywords = physical (Clic here for more details about this article) |
4/11. focal dermal hypoplasia (Goltz syndrome): case reports.Two Cape Coloured children, both with physical stigmata of Goltz syndrome, are described. Accurate diagnosis of congenital defects in the newborn allows optimal planning of surgical treatment and more accurate prognosis and genetic counselling.- - - - - - - - - - ranking = 0.12979308310791keywords = physical (Clic here for more details about this article) |
5/11. incontinentia pigmenti in a male infant with klinefelter syndrome.incontinentia pigmenti is a familial disorder affecting tissues derived from neuroectoderm. Statistical analysis of reported pedigrees is consistent with transmission of incontinentia pigmenti by an X-linked dominant gene with male hemizygote lethality. This report describes a male infant with the classic clinical features of this condition and a 47,XXY chromosomal constitution. These findings support the concept that incontinentia pigmenti is an X-linked dominant disorder. This case illustrates the importance of a full genetic investigation in all males with physical findings suggestive of an X-linked dominant disorder lethal in males.- - - - - - - - - - ranking = 0.12979308310791keywords = physical (Clic here for more details about this article) |
6/11. Cyclical Cushing's syndrome presenting as short stature in a boy with recurrent atrial myxomas and freckled skin pigmentation.A young male patient demonstrated unusual features of Cushing's syndrome, atrial myxomas and freckled skin pigmentation. At 4.5 years of age he presented with intermittent swelling of his face and abdomen associated with weight gain and mild hypertension. A left atrial myxoma, suspected from routine physical examination, was surgically removed at 6.1 years of age. The initial mild symptoms clinically thought to be due to Cushing's syndrome, persisted intermittently without any consistent biochemical abnormality. At 10 years of age height velocity decreased and at 12 years early osteoporosis was observed radiologically. Repeated dexamethasone tests revealed a paradoxical increase in cortisol and corticotrophin from normal basal levels. Further investigation showed a cyclical pattern of hypercortisolism. The removal of a pituitary microadenoma failed to correct the features of Cushing's syndrome or prevent intermittent hypercortisolism. At 15.3 years a second left atrial myxoma was removed. This was followed by bilateral adrenalectomy. Histologically the features were consistent with primary pigmented nodular adrenocortical disease. This is the first patient described with cyclical Cushing's syndrome as part of this unusual complex of disorders.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
7/11. Unusual case of green teeth resulting from neonatal hyperbilirubinemia.Despite its rarity, the unusual green pigmentation of a child's teeth causes great anxiety within the family and peer problems of significance for the child. Timely initiation of dental treatment to prevent disintegration of hypoplastic teeth and to offer cosmetic improvement of unusually discolored teeth must be made available to these children, to assure their normal physical, psychological, and social development. The methods, techniques, and materials available today make this possible.- - - - - - - - - - ranking = 0.12979308310791keywords = physical (Clic here for more details about this article) |
8/11. Painful subungual keratotic tumors in incontinentia pigmenti.We report a case of dyskeratotic subungual tumor in a 28-year-old woman. The patient presented achromic lineal lesions, typical of residual incontinentia pigmenti (IP), on her legs. Furthermore, the physical examination showed anodontia of the right incisor tooth. The familial background demonstrated miscarriages of male fetuses and characteristic dental abnormalities of IP in female siblings. The patient's daughter presented a typical background of IP and dyschromic splashed lesions. light and electron microscopic studies of the subungual tumors were made. The analogy between subungual tumors of IP and keratoacanthoma is emphasized.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
9/11. Partial deletion of long arm of chromosome 11: del (11) (q23).The cytogenetic analysis of an infant with multiple congenital anomalies revealed a small deletion of the long arm of one No. 11 chromosome: 46,XX,del(11)(q23). The main clinical manifestations included: ocular colobomata, absent philtrum, severe congenital heart disease, contractures of the large joints and skin pigmentation. Both parents showed a normal chromosome constitution. In comparison to the previously reported cases of 11q-, the patient presented here had more severe congenital anomalies. The correlation of the size of the deletion, and the location of the break, with the physical findings is discussed.- - - - - - - - - - ranking = 0.12979308310791keywords = physical (Clic here for more details about this article) |
10/11. patients presenting with Addison's disease need not be pigmented.Three consecutive cases of Addison's disease without increased pigmentation are described. We suggest that the absence of this important physical sign contributed to serious delays in diagnosis and markedly increased morbidity. We emphasize that, despite the usual textbook description, excess pigmentation is not necessarily a feature of Addison's disease.- - - - - - - - - - ranking = 0.12979308310791keywords = physical (Clic here for more details about this article) |
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