1/14. Cartilaginous hamartoma of the chest wall with secondary aneurysmal cyst-like areas in an infant: a case report.A case of a four-month-old infant diagnosed as cartilaginous hamartoma of the rib is presented. This rare tumor usually presents at birth. The patient had respiratory distress syndrome. Swelling of the ribs was palpable on physical examination and the infant underwent surgery for excision of the ribs. Histopathologically, the tumor showed benign focal overgrowth of normal skeletal elements with cartilaginous, vascular and primitive-appearing mesenchymal elements. Additionally, secondary aneurysmal cyst formation coexisted with the tumor. The diagnosis was infantile cartilaginous hamartoma of the rib. In this entity, primitive-appearing mesenchymal stroma may be mistaken for a malignant condition. Usually a benign clinical course is expected and treatment is by block excision.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
2/14. Segmental neurofibromatosis in association with nevus sebaceus of Jadassohn.We describe an unusual case involving the simultaneous occurrence of segmental neurofibromatosis (Type V NF) in a patient with a large nevus sebaceus of Jadassohn in the same physical distribution. Causative mechanisms of development of these 2 genetic disorders have not been definitively linked. Factors producing these diseases probably involve similar tissues at the same point in development because both have been reported in association with central nervous system anomalies and have been classified among the neurocutaneous syndromes. This is a case of a nevus sebaceus occurring in association with and in the same physical distribution as segmental NF. These disorders most likely represent a spectrum of disease within the phakomatoses.- - - - - - - - - - ranking = 0.10048274512195keywords = physical (Clic here for more details about this article) |
3/14. Inner ear malformations and hearing loss in linear nevus sebaceous syndrome.OBJECTIVE: Linear nevus sebaceous syndrome (LNSS) is a rare disorder comprising of nevus sebaceous, seizures, and mental retardation. While extensive literature describe the dermatologic, neurologic, as well as ophthalmologic manifestations of this LNSS, otologic problems have not been previously described. The objective of this report is to describe the otologic manifestation of a patient with LNSS. methods: A child with LNSS was referred to the Otologic clinic for evaluation of hearing loss. Pertinent findings on history, physical findings, audiometric testing, and imaging studies are discussed. RESULTS: Audiometric testing showed bilateral conductive hearing loss. Computerized tomography of the temporal bone demonstrated widened internal auditory canals and dysplastic lateral semicircular canals. CONCLUSION: LNSS can be associated with hearing impairment and inner ear malformations. The evaluation of a child with LNSS should include otologic and audiologic testing.- - - - - - - - - - ranking = 0.050241372560973keywords = physical (Clic here for more details about this article) |
4/14. Hamartomatous endocervical polyp with heterologous mesenchymal tissue.We present an endocervical polyp with heterologous elements. Although a few neoplastic cervical lesions with cartilaginous and adipocytic heterologous tissue have been reported, an endocervical polyp with heterologous cartilage and adipose tissue has not been reported before our case. The patient was a 33-year-old woman who presented with abnormal uterine bleeding. On physical examination, there were no remarkable findings other than a cervical polyp protruding into the cervical canal. The polyp was removed. Pathological examination revealed an endocervical polyp with typical epithelial features. The stroma of the polyp contained mature cartilage islands and adipose tissue. There were also many thick-walled vascular structures. Neither stromal periglandular condensation nor atypia was found. Mitotic figures were not observed. Arteriolar structures did not contain internal elastic lamina. In our opinion, these pathological findings are all consistent with a hamartomatous lesion rather than with a true neoplasm.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
5/14. Lipomatous variant of nasopharyngeal angiofibroma: a case report.Nasopharyngeal angiofibroma is an uncommon benign vascular tumor that occurs in adolescent boys and young men. We describe an unusual histological variant of this entity characterized by a prominent adipose tissue component. The patient was a 35-year-old man with a 20-year history of nasal obstruction. Results of physical examination and angiography demonstrated a nasal mass consistent with a nasopharyngeal angiofibroma. We discuss the differential diagnoses pathologically for this lesion.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
6/14. Retrorectal cyst: a rare tumor frequently misdiagnosed.BACKGROUND: The rarity of retrorectal cysts and their nonspecific clinical presentations often lead to misdiagnoses and inappropriate operations. In recent years, several such patients have been referred to our institutions for evaluation and treatment of misdiagnosed retrorectal cysts. A review of these patients is presented. STUDY DESIGN: medical records of the colorectal surgery divisions at two institutions were reviewed. patients found to have previously misdiagnosed retrorectal cysts were identified. Preliminary diagnoses, radiologic examinations, operative procedures, and final diagnoses were obtained. RESULTS: Seven patients with retrorectal cysts who had been misdiagnosed before referral were identified. These patients had been treated for fistulae in ano, pilonidal cysts, perianal abscesses; psychogenic, lower back, posttraumatic, or postpartum pain, and proctalgia fugax before the correct diagnosis was made. patients underwent an average of 4.1 operative procedures. physical examination in combination with CT scanning made the correct diagnosis in all patients. All patients underwent successful resection through a parasacrococcygeal approach, and six of seven did not require coccygectomy. The resected tumors included four hamartomas, two epidermoid cysts, and one enteric duplication cyst. CONCLUSIONS: Retrorectal cysts are a rare entity that can be difficult to diagnose without a high index of clinical suspicion. A history of multiple unsuccessful procedures should alert the clinician to the diagnosis of retrorectal cyst. Once suspected, the correct diagnosis can be made with physical examination and a CT scan before a definitive surgical procedure.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
7/14. Rhabdomyomatous mesenchymal hamartoma: a plaque-type variant in an adult.We present the case of a 40-year-old woman who had a flesh-colored asymptomatic plaque-like lesion above her chin since she was 30 years old. She was generally healthy and physical examination revealed no congenital abnormalities. Histopathology revealed a normal epidermal surface, mature striated muscle fibers arranged randomly within the dermis, and subcutaneous tissue associated with normal-appearing mesenchymal elements such as adipose tissue, collagen, blood vessels, and mature hair follicles. This fits the diagnosis of rhabdomyomatous mesenchymal hamartoma. Our case was different from previously reported cases with regards to the age of onset and clinical presentation. We report this rare adult case and discuss its differential diagnosis.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
8/14. Late-onset eccrine angiomatous hamartoma on the forehead.A 71-year-old Korean man presented with a solitary erythematous plaque on his forehead (Fig. 1). It was first noticed by the patient 1 year previously and had slowly increased in size over that time. physical examination revealed a slightly elevated, 1.5 cm x 1.5 cm erythematous plaque on the upper midline of the forehead. sweating was not evoked by physical work or emotional stress. There was no pain or tenderness associated with the lesion. The patient had no history of trauma to the forehead. Histopathologic examination of the lesion showed increased numbers of eccrine glands, as well as dilated vascular channels in the deep dermis and subcutaneous tissue (Fig. 2). An immunohistochemical study showed that these eccrine glands stained positively for S-100 and carcinoembryonic antigen (CEA), and the vascular channels for the antifactor VIII-related antigens. These findings are consistent with eccrine angiomatous hamartoma. There was no change in the lesion during the 1-year follow-up period.- - - - - - - - - - ranking = 0.050241372560973keywords = physical (Clic here for more details about this article) |
9/14. R831X mutation of the androgen receptor gene in an adolescent with complete androgen insensitivity syndrome and bilateral testicular hamartomata.An 18-year old, phenotypically female individual was examined for primary amenorrhea. Three months before her referral, the patient underwent surgery and a pelvic mass was removed. The physical examination revealed normal female external genitalia, normal breast development, sparse pubic hair and absence of axillary hair. The gynecological examination revealed a short blind vagina pouch and absence of cervix and uterus. serum testosterone and dihydrotestosterone levels were very high. karyotype was that of a normal male (46,XY). The transabdominal ultrasound, computed tomography (CT) and magnetic resonance imaging (MRI) showed absence of uterus and fallopian tubes and revealed testis-like gonads located at the internal opening of the inguinal canal bilaterally. Bilateral gonadectomy was subsequently performed. The pathology report was that of "hamartomatous testes" and associated paratesticular leiomyoma. The clinical, laboratory, imaging, genetic and histological findings confirmed the diagnosis of complete androgen insensitivity syndrome. dna analysis revealed a R831X mutation in exon 7 of the androgen receptor gene. A Sertoli-cell dynamic test showed elevated basal serum inhibin-B and anti-mullerian hormone levels without further rise following FSH stimulation. The patient was started on hormone replacement therapy with conjugated estrogens. Complete androgen insensitivity syndrome must be considered in any case of primary amenorrhea. Gonadectomy must be planned to eliminate the risk of gonadal malignancy.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
10/14. tuberous sclerosis complex: a review with a study of eight cases.This paper reviews the subject of tuberous sclerosis complex and presents data in eight cases of this condition, admitted to Hospital Universiti Sains malaysia over a period of 8.5 years. The average age at presentation was 53 months. seizures were the most common presenting feature. Male to female ratio was 3:1. family history was present in four patients. All of the patients had one or more skin lesions. Six of them had retinal in six patients. Two patients had renal angiomyolipomas. A high index of hamartomas. Cardiac tumours were found in two patients. Multiple subependymal hamartomas were detected in six patients. Two patients had renal angiomyolipomas. A high index of suspicion and a detailed physical examination is required to diagnose this rare disorder.- - - - - - - - - - ranking = 1keywords = physical examination, physical (Clic here for more details about this article) |
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