104 Case Report Kitasato Med J 2014; 44: 104-106 Neurofibroma of the penis due to neurofibromatosis type 1: von Recklinghausen's disease Takahiro Hirayama, 1 Kazumasa Matsumoto, 1 Sho Minami, 2 Shoji Nagi, 1 Masatsugu Iwamura 1 1 Department of Urology, Kitasato University School of Medicine 2 Department of Applied Tumor Pathology, Kitasato University Graduate School of Medical Sciences We report a case of neurofibromatosis type 1 (NF1), also known as von Recklinghausen's disease, with a primary neurofibroma of the penis that was treated surgically. A 38-year-old man presented with severe pain from a penile mass localized in the left aspect of the proximal portion of the penile shaft. The mass was excised, and there was no adhesion between the mass and the tunica albuginea of the left corpus. Pathological examination revealed a neurofibroma. After surgery, the patient had no pain and maintained penile sensation and erection. At the 12-month follow-up, there was no sign of recurrence. To our knowledge, only 14 cases of primary or solitary penile NF1 have been reported in the literature. Key words: neurofibroma, von Recklinghausen's disease, penile mass Introduction eurofibromatosis type 1 (NF1), also known as von Recklinghausen's disease, is a common autosomal dominant disease caused by mutations in the NF1 gene localized on 17q11.2 that encodes neurofibromin, with an incidence of 1 in approximately 3000 births. It is characterized by multiple pigmented cutaneous lesions (café-au-lait spots) and tumors of the skin and nerves. Because of the variable gene expression, only 50% of the patients have a familial history. Neurofibromas are tumors that potentially arise anywhere in the body from cranial, peripheral, or visceral nerves. However, primary neurofibromas of the penis are extremely rare, especially in adults. 1,2 We report an adult case with a primary neurofibroma of the penis that was surgically treated. Case report A 38-year-old man with NF1 presented for evaluation of a penile mass localized on the left aspect of the proximal portion of the penile shaft. NF1 had been diagnosed in the patient during childhood. A diagnosis of NF1 is based on clinical features and requires the presence of at least two of the following major factors: six or more café au lait spots, auxiliary or inguinal freckling, two or more cutaneous neurofibromas, one plexiform neurofibroma, characteristic bony defects, optic glioma, two or more iris (Lisch) nodules, and a first-degree relative with NF1. 3 The patient presented with two of the diagnostic criteria: specifically, more than six café au lait spots and inguinal freckling. Results from visual and hearing examinations at a previous hospital were normal. No familial history of NF1 was elicited from the patient; however, genetic testing for NF1 or brain magnetic resonance imaging (MRI) were not performed owing to the patient's family's disagreement. He had suffered for several months with severe pain and an uncomfortable sensation while walking due to the palpable penile mass, which was firm and elastic. MRI of the pelvis revealed a high-intensity mass on the corpus (Figure 1). We diagnosed this mass as a neurofibroma, and it was surgically resected. There was no adhesion between the mass and the tunica albuginea of the corpus, and the mass could be completely removed. After the surgery, the patient had no pain and maintained penile sensation and erection. Pathological examination revealed a neurofibroma, which was positive for S100 (Figure 2). At the 12-month follow-up, there was no sign of recurrence. Discussion NF1 involves rare hamartomatous growth of neural crest cells that affects the supporting mesenchymal elements and was first described by Friedrich Daniel von Recklinghausen in 1882. NF1 affecting the genitourinary N Received 3 September 2013, accepted 19 September 2013 Correspondence to: Takahiro Hirayama, Department of Urology, Kitasato University School of Medicine 1-15-1 Kitasato, Minami-ku, Sagamihara, Kanagawa 252-0374, Japan E-mail: [email protected]
Neurofibroma of the penis due to neurofibromatosis type 1: von Recklinghausen's disease
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34-13Case Report Kitasato Med J 2014; 44: 104-106
Neurofibroma of the penis due to neurofibromatosis type 1: von Recklinghausen's disease
Takahiro Hirayama,1 Kazumasa Matsumoto,1 Sho Minami,2 Shoji Nagi,1 Masatsugu Iwamura1
1 Department of Urology, Kitasato University School of Medicine 2 Department of Applied Tumor Pathology, Kitasato University Graduate School of Medical Sciences
We report a case of neurofibromatosis type 1 (NF1), also known as von Recklinghausen's disease, with a primary neurofibroma of the penis that was treated surgically. A 38-year-old man presented with severe pain from a penile mass localized in the left aspect of the proximal portion of the penile shaft. The mass was excised, and there was no adhesion between the mass and the tunica albuginea of the left corpus. Pathological examination revealed a neurofibroma. After surgery, the patient had no pain and maintained penile sensation and erection. At the 12-month follow-up, there was no sign of recurrence. To our knowledge, only 14 cases of primary or solitary penile NF1 have been reported in the literature.
Key words: neurofibroma, von Recklinghausen's disease, penile mass
Introduction
eurofibromatosis type 1 (NF1), also known as von Recklinghausen's disease, is a common autosomal
dominant disease caused by mutations in the NF1 gene localized on 17q11.2 that encodes neurofibromin, with an incidence of 1 in approximately 3000 births. It is characterized by multiple pigmented cutaneous lesions (café-au-lait spots) and tumors of the skin and nerves. Because of the variable gene expression, only 50% of the patients have a familial history. Neurofibromas are tumors that potentially arise anywhere in the body from cranial, peripheral, or visceral nerves. However, primary neurofibromas of the penis are extremely rare, especially in adults.1,2 We report an adult case with a primary neurofibroma of the penis that was surgically treated.
Case report
A 38-year-old man with NF1 presented for evaluation of a penile mass localized on the left aspect of the proximal portion of the penile shaft. NF1 had been diagnosed in the patient during childhood. A diagnosis of NF1 is based on clinical features and requires the presence of at least two of the following major factors: six or more café au lait spots, auxiliary or inguinal freckling, two or more cutaneous neurofibromas, one plexiform neurofibroma, characteristic bony defects, optic glioma, two or more
iris (Lisch) nodules, and a first-degree relative with NF1.3
The patient presented with two of the diagnostic criteria: specifically, more than six café au lait spots and inguinal freckling. Results from visual and hearing examinations at a previous hospital were normal. No familial history of NF1 was elicited from the patient; however, genetic testing for NF1 or brain magnetic resonance imaging (MRI) were not performed owing to the patient's family's disagreement. He had suffered for several months with severe pain and an uncomfortable sensation while walking due to the palpable penile mass, which was firm and elastic. MRI of the pelvis revealed a high-intensity mass on the corpus (Figure 1). We diagnosed this mass as a neurofibroma, and it was surgically resected. There was no adhesion between the mass and the tunica albuginea of the corpus, and the mass could be completely removed. After the surgery, the patient had no pain and maintained penile sensation and erection. Pathological examination revealed a neurofibroma, which was positive for S100 (Figure 2). At the 12-month follow-up, there was no sign of recurrence.
Discussion
NF1 involves rare hamartomatous growth of neural crest cells that affects the supporting mesenchymal elements and was first described by Friedrich Daniel von Recklinghausen in 1882. NF1 affecting the genitourinary
N
Received 3 September 2013, accepted 19 September 2013 Correspondence to: Takahiro Hirayama, Department of Urology, Kitasato University School of Medicine 1-15-1 Kitasato, Minami-ku, Sagamihara, Kanagawa 252-0374, Japan E-mail: [email protected]
105
Hirayama, et al.
Figure 1. MRI showed a penile mass in the left proximal portion of the shaft (arrows).
Figure 2. Pathological examination revealed a neurofibroma with hematoxylin and eosin staining (left) and S100 immunostaining (right). The cells were strongly positive for S100. The presence of S100 immunostaining was presumed to indicate that the stained cells were part of the neural crest Schwann cell lineage.
Table Patients with primary penile neurofibroma
Case Age History Treatment Author Year
1 29 y Neurofibibroma Not Mentioned Pelot et al. 1965 2 20 y Neurofibibroma Not Mentioned Romaszewski et al. 1969 3 25 y Neurofibibroma Surgery Dehner et al. 1970 4 23 y Neurofibibroma Surgery Dehner et al. 1970 5 19 y Neurofibibroma Surgery Dehner et al. 1970 6 at birth Neurofibibroma Surgery Dehner et al. 1970 7 at birth Neurofibibroma Surgery Fethiere et al. 1974 8 7 y Neurofibibroma Surgery Elliott et al. 1981 9 8 y Neurofibibroma Surgery Dwosh et al. 1984 10 27 m Neurofibibroma Surgery Kousseff et al. 1999 11 9 y Neurofibibroma Surgery Littejohn et al. 2000 12 8 y Neurofibibroma Surgery Pascual-Castroviejo et al. 2008 13 26 y Neurofibibroma Surgery Barros et al. 2008 14 31 y Neurofibibroma Surgery Caraffa et al. 2008 15 38 y Neurofibibroma Surgery Hirayama et al. (Present case) 2013
106
tract is uncommon. Of the genitourinary tract tissues, the bladder is the most frequent site for neurofibromas, which occur in the penis extremely rarely.4 We found 14 cases of primary or solitary penile NF1 in the literature (Table).1,4,5,8-10 Pascual-Castroviejo et al. reported that only 4 of 620 cases presented with primary genitalia neurofibromas (0.65%).5
Neurofibromas occasionally undergo malignant transformation such as in cases of malignant peripheral nerve sheath tumors.6,7 MRI is the gold standard for preoperative evaluation of tumoral extension from the genitourinary tract to the pelvic and the lumbosacral regions, and axial images are more valuable than any other view.5 Data of this nature are sparse in the urologic literature, however, because neurofibromas of the urinary tract are so rare. It is estimated that malignancy occurs in 5% to 30% of the cases.6
Garaffa et al. reported a young male patient with a penile neurofibroma which was associated with erectile dysfunction.10 The dorsal neurovascular bundle (DNB) was mobilized off the mass that was adherent to the tunica albuginea of the corpus. At the 6-month follow-up after the surgery, erectile dysfunction persisted. Barros et al. reported another young male who had difficulty with sexual intercourse owing to a penile neurofibroma.8 A complete resection of the mass was also performed in that case. The mass was adherent to the tunica albuginea of the corpus but not contiguous with the DNB. The patient subsequently recovered with maintenance of penile function and no pain. In the present case, the mass, which did not involve the tunica albuginea of the corpus or the DNB, could be completely resected and the patient recovered well.
Neurofibroma should be considered in the differential diagnosis of perineal pain, especially when palpable nodules are present. The treatment goal of neurofibroma is complete resection, avoiding progression, and malignant degeneration. Therefore, a complete excision
of penile neurofibromas preventing DNB at an optimal time is paramount not only to histologically confirm the nature of the mass but also to maintain function and cosmetic appearance.9
References
1. Littlejohn JO, Belman AB, Selby D. Plexiform neurofibroma of the penis in a child. Urology 2000; 56: 669.
2. Wallace MR, Marchuk DA, Andersen LB, et al. Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Science 1990; 249: 181-6.
3. National Institutes of Health Consensus Development Conference. Neurofibromatosis: Conference statement. Arch Neurol 1988; 45: 575-8.
4. Kousseff BG, Hoover DL. Penile neurofibromas. Am J Med Genet 1999; 87: 1-5.
5. Pascual-Castroviejo I, Lopez-Pereira P, Savasta S, et al. Neurofibromatosis type 1 with external genitalia involvement presentation of 4 patients. J Pediatr Surg 2008; 43: 1998-2003.
6. Rodó J, Medina M, Carrasco R, et al. Enlarged penis due to a plexiform neurofibroma. J Urol 1999; 162: 1753-4.
7. Parekh N, Cockrell E, McMahon D. Malignant peripheral nerve sheath tumor of the penis: a case report and review of the literature. Urology 2013; 81: 1067-8.
8. Barros R, Cavalcanti AG, Favorito LA. Plexiforme neurofibroma with compromising of the penile function. Urology 2008; 71: 546.e9-10.
9. Dehner LP, Smith BH. Soft tissue tumors of the penis. A clinicopathologic study of 46 cases. Cancer 1970; 25: 1431-47.
10. Garaffa G, Bettocchi C, Christopher N, et al. Plexiform neurofibroma of the penis associated with erectile dysfunction due to arterial steeling. J Sex Med 2008; 5: 234-6.
A primary penile neurofibroma
Neurofibroma of the penis due to neurofibromatosis type 1: von Recklinghausen's disease
Takahiro Hirayama,1 Kazumasa Matsumoto,1 Sho Minami,2 Shoji Nagi,1 Masatsugu Iwamura1
1 Department of Urology, Kitasato University School of Medicine 2 Department of Applied Tumor Pathology, Kitasato University Graduate School of Medical Sciences
We report a case of neurofibromatosis type 1 (NF1), also known as von Recklinghausen's disease, with a primary neurofibroma of the penis that was treated surgically. A 38-year-old man presented with severe pain from a penile mass localized in the left aspect of the proximal portion of the penile shaft. The mass was excised, and there was no adhesion between the mass and the tunica albuginea of the left corpus. Pathological examination revealed a neurofibroma. After surgery, the patient had no pain and maintained penile sensation and erection. At the 12-month follow-up, there was no sign of recurrence. To our knowledge, only 14 cases of primary or solitary penile NF1 have been reported in the literature.
Key words: neurofibroma, von Recklinghausen's disease, penile mass
Introduction
eurofibromatosis type 1 (NF1), also known as von Recklinghausen's disease, is a common autosomal
dominant disease caused by mutations in the NF1 gene localized on 17q11.2 that encodes neurofibromin, with an incidence of 1 in approximately 3000 births. It is characterized by multiple pigmented cutaneous lesions (café-au-lait spots) and tumors of the skin and nerves. Because of the variable gene expression, only 50% of the patients have a familial history. Neurofibromas are tumors that potentially arise anywhere in the body from cranial, peripheral, or visceral nerves. However, primary neurofibromas of the penis are extremely rare, especially in adults.1,2 We report an adult case with a primary neurofibroma of the penis that was surgically treated.
Case report
A 38-year-old man with NF1 presented for evaluation of a penile mass localized on the left aspect of the proximal portion of the penile shaft. NF1 had been diagnosed in the patient during childhood. A diagnosis of NF1 is based on clinical features and requires the presence of at least two of the following major factors: six or more café au lait spots, auxiliary or inguinal freckling, two or more cutaneous neurofibromas, one plexiform neurofibroma, characteristic bony defects, optic glioma, two or more
iris (Lisch) nodules, and a first-degree relative with NF1.3
The patient presented with two of the diagnostic criteria: specifically, more than six café au lait spots and inguinal freckling. Results from visual and hearing examinations at a previous hospital were normal. No familial history of NF1 was elicited from the patient; however, genetic testing for NF1 or brain magnetic resonance imaging (MRI) were not performed owing to the patient's family's disagreement. He had suffered for several months with severe pain and an uncomfortable sensation while walking due to the palpable penile mass, which was firm and elastic. MRI of the pelvis revealed a high-intensity mass on the corpus (Figure 1). We diagnosed this mass as a neurofibroma, and it was surgically resected. There was no adhesion between the mass and the tunica albuginea of the corpus, and the mass could be completely removed. After the surgery, the patient had no pain and maintained penile sensation and erection. Pathological examination revealed a neurofibroma, which was positive for S100 (Figure 2). At the 12-month follow-up, there was no sign of recurrence.
Discussion
NF1 involves rare hamartomatous growth of neural crest cells that affects the supporting mesenchymal elements and was first described by Friedrich Daniel von Recklinghausen in 1882. NF1 affecting the genitourinary
N
Received 3 September 2013, accepted 19 September 2013 Correspondence to: Takahiro Hirayama, Department of Urology, Kitasato University School of Medicine 1-15-1 Kitasato, Minami-ku, Sagamihara, Kanagawa 252-0374, Japan E-mail: [email protected]
105
Hirayama, et al.
Figure 1. MRI showed a penile mass in the left proximal portion of the shaft (arrows).
Figure 2. Pathological examination revealed a neurofibroma with hematoxylin and eosin staining (left) and S100 immunostaining (right). The cells were strongly positive for S100. The presence of S100 immunostaining was presumed to indicate that the stained cells were part of the neural crest Schwann cell lineage.
Table Patients with primary penile neurofibroma
Case Age History Treatment Author Year
1 29 y Neurofibibroma Not Mentioned Pelot et al. 1965 2 20 y Neurofibibroma Not Mentioned Romaszewski et al. 1969 3 25 y Neurofibibroma Surgery Dehner et al. 1970 4 23 y Neurofibibroma Surgery Dehner et al. 1970 5 19 y Neurofibibroma Surgery Dehner et al. 1970 6 at birth Neurofibibroma Surgery Dehner et al. 1970 7 at birth Neurofibibroma Surgery Fethiere et al. 1974 8 7 y Neurofibibroma Surgery Elliott et al. 1981 9 8 y Neurofibibroma Surgery Dwosh et al. 1984 10 27 m Neurofibibroma Surgery Kousseff et al. 1999 11 9 y Neurofibibroma Surgery Littejohn et al. 2000 12 8 y Neurofibibroma Surgery Pascual-Castroviejo et al. 2008 13 26 y Neurofibibroma Surgery Barros et al. 2008 14 31 y Neurofibibroma Surgery Caraffa et al. 2008 15 38 y Neurofibibroma Surgery Hirayama et al. (Present case) 2013
106
tract is uncommon. Of the genitourinary tract tissues, the bladder is the most frequent site for neurofibromas, which occur in the penis extremely rarely.4 We found 14 cases of primary or solitary penile NF1 in the literature (Table).1,4,5,8-10 Pascual-Castroviejo et al. reported that only 4 of 620 cases presented with primary genitalia neurofibromas (0.65%).5
Neurofibromas occasionally undergo malignant transformation such as in cases of malignant peripheral nerve sheath tumors.6,7 MRI is the gold standard for preoperative evaluation of tumoral extension from the genitourinary tract to the pelvic and the lumbosacral regions, and axial images are more valuable than any other view.5 Data of this nature are sparse in the urologic literature, however, because neurofibromas of the urinary tract are so rare. It is estimated that malignancy occurs in 5% to 30% of the cases.6
Garaffa et al. reported a young male patient with a penile neurofibroma which was associated with erectile dysfunction.10 The dorsal neurovascular bundle (DNB) was mobilized off the mass that was adherent to the tunica albuginea of the corpus. At the 6-month follow-up after the surgery, erectile dysfunction persisted. Barros et al. reported another young male who had difficulty with sexual intercourse owing to a penile neurofibroma.8 A complete resection of the mass was also performed in that case. The mass was adherent to the tunica albuginea of the corpus but not contiguous with the DNB. The patient subsequently recovered with maintenance of penile function and no pain. In the present case, the mass, which did not involve the tunica albuginea of the corpus or the DNB, could be completely resected and the patient recovered well.
Neurofibroma should be considered in the differential diagnosis of perineal pain, especially when palpable nodules are present. The treatment goal of neurofibroma is complete resection, avoiding progression, and malignant degeneration. Therefore, a complete excision
of penile neurofibromas preventing DNB at an optimal time is paramount not only to histologically confirm the nature of the mass but also to maintain function and cosmetic appearance.9
References
1. Littlejohn JO, Belman AB, Selby D. Plexiform neurofibroma of the penis in a child. Urology 2000; 56: 669.
2. Wallace MR, Marchuk DA, Andersen LB, et al. Type 1 neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients. Science 1990; 249: 181-6.
3. National Institutes of Health Consensus Development Conference. Neurofibromatosis: Conference statement. Arch Neurol 1988; 45: 575-8.
4. Kousseff BG, Hoover DL. Penile neurofibromas. Am J Med Genet 1999; 87: 1-5.
5. Pascual-Castroviejo I, Lopez-Pereira P, Savasta S, et al. Neurofibromatosis type 1 with external genitalia involvement presentation of 4 patients. J Pediatr Surg 2008; 43: 1998-2003.
6. Rodó J, Medina M, Carrasco R, et al. Enlarged penis due to a plexiform neurofibroma. J Urol 1999; 162: 1753-4.
7. Parekh N, Cockrell E, McMahon D. Malignant peripheral nerve sheath tumor of the penis: a case report and review of the literature. Urology 2013; 81: 1067-8.
8. Barros R, Cavalcanti AG, Favorito LA. Plexiforme neurofibroma with compromising of the penile function. Urology 2008; 71: 546.e9-10.
9. Dehner LP, Smith BH. Soft tissue tumors of the penis. A clinicopathologic study of 46 cases. Cancer 1970; 25: 1431-47.
10. Garaffa G, Bettocchi C, Christopher N, et al. Plexiform neurofibroma of the penis associated with erectile dysfunction due to arterial steeling. J Sex Med 2008; 5: 234-6.
A primary penile neurofibroma
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