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Plexiform Neurofibroma Presenting as Clitoromegaly: Case Report and Review of the Literature
NASPAG 22nd Annual Clinical Meeting
One patient had a synthesis defect and another also had von Willebrand disease; in 2, the defect was recorded as ‘‘dysfunction.’’ Twenty-two (22/26; 85%) presented with primary menorrhagia, while in 4 (4/26; 15%) adolescents, it was a secondary finding. For 16 (16/26; 62%), menorrhagia was the only symptom at presentation, while in 10 (10/26; 38%), one or more of the following symptoms were also present: epistaxis (9), easy bruising (5), bleeding during surgery and/or dental procedures (4) and gingival bleeding (1). Nineteen patients [SP defects (10), ASA-like defects (5) and PFD (4)] received single agent therapy: aminocaproic acid (3), DDAVP (6), or oral contraceptives (OCs) (10). Control of menorrhagia was achieved in 11 (11/19; 58%), where 9 presented with primary menorrhagia and received only OC therapy. Seven patients (7/22; 31%) presenting with primary menorrhagia received combination therapy, with 3 (3/7; 43%) achieving menorrhagia control. None of the patients (0/4) with menorrhagia as a secondary finding required a combination approach. Conclusion: Approximately 40% of adolescents with platelet function disorders present with menorrhagia, which should be considered in all adolescents with unexplained menorrhagia. Over 60% will have storage pool defects, the menorrhagia will likely be primary and represent the only symptom at presentation. Menorrhagia in this population may respond better to single OC therapy, than to combined modalities. doi:10.1016/j.jpag.2008.01.061
Plexiform Neurofibroma Presenting as Clitoromegaly: Case Report and Review of the Literature Jamie A.M. Massie, MD, and Judith Lacy, MD Stanford University, Division of Obstetrics and Gynecology, Stanford, CA
Background: Neurofibromatosis Type I is an autosomal dominant disorder affecting approximately 1 in 3000 births. Genital lesions are occasionally present, with the vulva being the most common site of involvement. Only rare incidences of clitoral, vaginal, cervical and ovarian neurofibromas have been reported. We report a case of an isolated periclitoral plexiform neurofibroma as the presenting sign of neurofibromatosis. Case: A 14-month-old white female was referred to the pediatric and adolescent gynecology clinic for
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evaluation of clitoromegaly. Previously, she had undergone evaluation by a pediatrician, pediatric urologist and pediatric endocrinologist for this finding. Maternal pregnancy and delivery were unremarkable. At birth, mild ‘‘swelling’’ of the clitoral area was noted and progressive enlargement over time was observed. Downy pubic hair developed at approximately 6 months of age. There were no familial medical problems reported. On physical examination, Tanner stage I breast and Tanner stage II pubic hair development were documented. Her vaginal mucosa was prepubertal and unestrogenized with an intact hymen. There was a soft, compressible tissue mass adjacent to the clitoral hood, measuring 2.2 1.0 cm (Figure 1). She had one cafe´au-lait spot on her left inner thigh and the overlying skin on the periclitoral mass was noted to be mildly hyperpigmented. Endocrine evaluation revealed normal renin, ACTH and testosterone levels. Screening for congenital adrenal hyperplasia was negative. Karyotype analysis revealed a normal 46XX female. Abdominal ultrasound revealed normal ovaries bilaterally without adnexal masses and a normal-appearing prepubertal uterus. Transperineal images demonstrated a hypoechoic lesion adjacent to the clitoris, measuring 0.4 0.7 0.6 cm and no vascular flow was seen within the lesion (Figure 2). Radiologic assessment concluded probable epithelial inclusion cyst. Examination under anesthesia revealed a 1 1.5 cm soft tissue mass adjacent to the clitoris and surrounding the left labia minora. There was mild surrounding erythema and overlying hyperpigmentation, but no evidence of exudate. A demarcation between normal tissue and the mass was easily identified and needle point cautery was used to create an incision at the base of the mass with subsequent resection en bloc. On histologic examination, features were consistent with a plexiform neurofibroma. The patient was subsequently referred to pediatric genetic counseling for further evaluation. Comments: This case demonstrates a rare example of neurofibromatosis presenting as clitoromegaly. An extensive literature review showed that fewer than 30 cases of clitoral neurofibromas in girls less than 18 years of age have been reported (table to be provided). Of these, 11 reported other genitourinary involvement such as the labia majora or urinary bladder, while 17 were isolated clitoral lesions. Once diagnosed, the treatment of genital neurofibromas should include local resection with preservation of genital architecture and neurovascular supply. Appropriate genetic counseling, treatment and follow-up for these young patients is necessary. doi:10.1016/j.jpag.2008.01.062
One patient had a synthesis defect and another also had von Willebrand disease; in 2, the defect was recorded as ‘‘dysfunction.’’ Twenty-two (22/26; 85%) presented with primary menorrhagia, while in 4 (4/26; 15%) adolescents, it was a secondary finding. For 16 (16/26; 62%), menorrhagia was the only symptom at presentation, while in 10 (10/26; 38%), one or more of the following symptoms were also present: epistaxis (9), easy bruising (5), bleeding during surgery and/or dental procedures (4) and gingival bleeding (1). Nineteen patients [SP defects (10), ASA-like defects (5) and PFD (4)] received single agent therapy: aminocaproic acid (3), DDAVP (6), or oral contraceptives (OCs) (10). Control of menorrhagia was achieved in 11 (11/19; 58%), where 9 presented with primary menorrhagia and received only OC therapy. Seven patients (7/22; 31%) presenting with primary menorrhagia received combination therapy, with 3 (3/7; 43%) achieving menorrhagia control. None of the patients (0/4) with menorrhagia as a secondary finding required a combination approach. Conclusion: Approximately 40% of adolescents with platelet function disorders present with menorrhagia, which should be considered in all adolescents with unexplained menorrhagia. Over 60% will have storage pool defects, the menorrhagia will likely be primary and represent the only symptom at presentation. Menorrhagia in this population may respond better to single OC therapy, than to combined modalities. doi:10.1016/j.jpag.2008.01.061
Plexiform Neurofibroma Presenting as Clitoromegaly: Case Report and Review of the Literature Jamie A.M. Massie, MD, and Judith Lacy, MD Stanford University, Division of Obstetrics and Gynecology, Stanford, CA
Background: Neurofibromatosis Type I is an autosomal dominant disorder affecting approximately 1 in 3000 births. Genital lesions are occasionally present, with the vulva being the most common site of involvement. Only rare incidences of clitoral, vaginal, cervical and ovarian neurofibromas have been reported. We report a case of an isolated periclitoral plexiform neurofibroma as the presenting sign of neurofibromatosis. Case: A 14-month-old white female was referred to the pediatric and adolescent gynecology clinic for
97
evaluation of clitoromegaly. Previously, she had undergone evaluation by a pediatrician, pediatric urologist and pediatric endocrinologist for this finding. Maternal pregnancy and delivery were unremarkable. At birth, mild ‘‘swelling’’ of the clitoral area was noted and progressive enlargement over time was observed. Downy pubic hair developed at approximately 6 months of age. There were no familial medical problems reported. On physical examination, Tanner stage I breast and Tanner stage II pubic hair development were documented. Her vaginal mucosa was prepubertal and unestrogenized with an intact hymen. There was a soft, compressible tissue mass adjacent to the clitoral hood, measuring 2.2 1.0 cm (Figure 1). She had one cafe´au-lait spot on her left inner thigh and the overlying skin on the periclitoral mass was noted to be mildly hyperpigmented. Endocrine evaluation revealed normal renin, ACTH and testosterone levels. Screening for congenital adrenal hyperplasia was negative. Karyotype analysis revealed a normal 46XX female. Abdominal ultrasound revealed normal ovaries bilaterally without adnexal masses and a normal-appearing prepubertal uterus. Transperineal images demonstrated a hypoechoic lesion adjacent to the clitoris, measuring 0.4 0.7 0.6 cm and no vascular flow was seen within the lesion (Figure 2). Radiologic assessment concluded probable epithelial inclusion cyst. Examination under anesthesia revealed a 1 1.5 cm soft tissue mass adjacent to the clitoris and surrounding the left labia minora. There was mild surrounding erythema and overlying hyperpigmentation, but no evidence of exudate. A demarcation between normal tissue and the mass was easily identified and needle point cautery was used to create an incision at the base of the mass with subsequent resection en bloc. On histologic examination, features were consistent with a plexiform neurofibroma. The patient was subsequently referred to pediatric genetic counseling for further evaluation. Comments: This case demonstrates a rare example of neurofibromatosis presenting as clitoromegaly. An extensive literature review showed that fewer than 30 cases of clitoral neurofibromas in girls less than 18 years of age have been reported (table to be provided). Of these, 11 reported other genitourinary involvement such as the labia majora or urinary bladder, while 17 were isolated clitoral lesions. Once diagnosed, the treatment of genital neurofibromas should include local resection with preservation of genital architecture and neurovascular supply. Appropriate genetic counseling, treatment and follow-up for these young patients is necessary. doi:10.1016/j.jpag.2008.01.062