Search

Primary localized cutaneous amyloidosis is an uncommon lesion (1,2). Recently, Merika EE and coworkers (3) described two patients with localized amyloid lesion of the glans penis and in the literature review they found only 10 previously reported cases. A 50-year-old uncircumcised man presented with an asymptomatic penile lesion, unresponsive to topical steroid. The patient reported that he first noticed two small non-painful raised areas on his glans penis approximately 3 years previously. Since that time, these two areas had been slowly increasing in size. This article is protected by copyright. All rights reserved.

Roberts syndrome, which is inherited as an autosomal recessive group of disorders, is a rare syndrome characterized with symmetrical extremity defects, craniofacial abnormalities, and prenatal and postnatal growth retardation. Here, we present a case of Roberts Syndrome brought to the clinic with diarrhoea and multiple abnormalities, that had tetra phocomelia, growth and developmental retardation, abnormality of complete cleft lip-palate accompanied with Aortic stenosis and PDA, and in which cytogenetic analysis identified premature centromere separation. Mutation analysis of ESCO2 revealed a splice site mutation [c.1131+1G>A] in intron 6 in homozygous status in the patient and heterozygous status in the parents. Our case is the first Robert- Syndrome with valvular aortic stenosis in the literature, to the best of our knowledge.

Roberts syndrome, which is inherited as an autosomal recessive group of disorders, is a rare syndrome characterized with symmetrical extremity defects, craniofacial abnormalities, and prenatal and postnatal growth retardation. Here, we present a case of Roberts Syndrome brought to the clinic with diarrhoea and multiple abnormalities, that had tetra phocomelia, growth and developmental retardation, abnormality of complete cleft lip-palate accompanied with Aortic stenosis and PDA, and in which cytogenetic analysis identified premature centromere separation. Mutation analysis of ESCO2 revealed a splice site mutation [c.1131+1G>A] in intron 6 in homozygous status in the patient and heterozygous status in the parents. Our case is the first Robert- Syndrome with valvular aortic stenosis in the literature, to the best of our knowledge.

Malignant atrophic papulosis (MAP) is a rare, obliterating vasculopathy affecting multiple systems, frequently with a poor prognosis. Although cutaneous lesions are often the initial presentation, systemic involvement is also common, usually with a fatal outcome. Involvement of the genitalia is very rare. We describe a 45-year-old male patient with multisytemic manifestation of MAP accompanied by painful penile ulceration. The pathogenesis of MAP is not yet fully understood and effective treatment choices are limited. In our case, the combination of pentoxifylline and dipyridamole failed to provide a beneficial effect on the progression of the disease and the patient died due to intestinal and intrathoracic manifestation of MAP. In the present case, attention should be drawn to the following clinical course and therapeutic properties: (i) we describe the second patient in the literature diagnosed with MAP and painful penile ulceration; (ii) to our knowledge, this is the first reported case with oesophageal fistula due to MAP; (iii) we could not confirm the efficacy of pentoxifylline, the recently reported treatment modality, in our patient.

Injury to the penis may result from penetrating or nonpenetrating trauma. Nonpenetrating injury to the erect penis can produce albugineal tear, intracavernous hematoma or extraalbugineal hematoma from rupture of the dorsal vessels. Nonpenetrating injury to the flaccid penis usually follows blunt perineal traumas producing extratunical or cavernosal haematomas, or cavernosal artery tear followed by high flow priapism. Differential diagnosis between albugineal tear and other penile injuries must be obtained as soon as possible, since early surgical repair of albugineal tear reduces significantly the rate of postraumatic curvature and fibrosis. Ultrasonography (US) is able to detect the exact site of the tear in most patients as an interruption of the thin echogenic line of the tunica albuginea. Other imaging techniques are rarely required in the clinical practice. Color Doppler US is the imaging modality of choice to evaluate patients with high flow priapism. Focal or diffuse cavernosal fibrosis can be identified with US as echogenic areas in the cavernosal bodies. Postraumatic erectile dysfunction can result from fibrotic changes, nerve and vascular impairment or both. Doppler evaluation of penile vasculature is required in young patients with postraumatic impotence before surgical revascularization procedures.

Submitted by Vitor Silverio Rodrigues (vitorsrodrigues@reitoria.unesp.br) on 2014-05-27T11:20:14Z No. of bitstreams: 0Bitstream added on 2014-05-27T14:29:11Z : No. of bitstreams: 1 2-s2.0-0035075237.pdf: 15962 bytes, checksum: ba8c8e74cc3170b87505fd0fdc6c347d (MD5) Made available in DSpace on 2014-05-27T11:20:14Z (GMT). No. of bitstreams: 0 Previous issue date: 2001-01-01 Objectives: Penile fracture is a rare injury, usually resulting from direct trauma to the erect penis during sexual intercourse. Our goal was to evaluate the best diagnostic methods and the late complications following surgical treatment of penile fracture. Material and Methods: We studied retrospectively 11 patients with penile fracture in a period of 10 years (1985-1995). Results: In 55% of the cases, the injury occurred during sexual intercourse. All patients presented with a very suggestive clinical picture (pain, detumescence and hematoma) and only 2 were submitted to further investigation (ultrasonography) to confirm the diagnosis. Only one patient had urethral bleeding and therefore was submitted to retrograde urethrogram, which confirmed urethral injury. All patients were treated by immediate surgery, through a circular subcoronal incision and degloving of the penis to allow a thorough exploration. All patients had a tunica albuginea tear that was promptly repaired, and 2 patients (18%) had associated urethral injury (one had no symptoms) that was also repaired. All patients did very well after surgery and only one had a mild curvature, which did not hinder intercourse during follow-up (18 months). Conclusions: Penile fracture has very typical clinical signs and, therefore, further investigation is usually unnecessary. Early surgical treatment is associated with a low incidence of late complications. Divisão Clín. Urol. School of Medicine State Univ. of São Paulo, Av. Dr. Eneas de Carvalho Aguiar 255, São Paulo, SP 05422-970