Get 20M+ Full-Text Papers For Less Than $1.50/day. Start a 14-Day Trial for You or Your Team.

Learn More →

Fibrous dysplasia and Klippel–Trenaunay syndrome: a rare association

Fibrous dysplasia and Klippel–Trenaunay syndrome: a rare association Fibrous dysplasia is a rare congenital disorder, with abnormal hypertrophy of affected bone. A 17-year-old girl with a protru- sion on her right forehead presented and was diagnosed as craniofacial fibrous dysplasia. Although she had no gait problem, her right leg was longer than the other. She had vascular malformation on the right leg. The condition was diagnosed as Klippel–Trénaunay syndrome, which also is a rare disorder. As the prevalence of these disorders is scarce, the probability of coincidental association of them is extremely low. No previous report about the association of fibrous dysplasia and Klippel– Trénaunay syndrome could be found. We concluded that, those two rare congenital disorders arose coincidentally in this patient. mucosal hypertrophy or frontonasal duct stenosis. Multiple intra- INTRODUCTION cranial calcification was observed. She presented no psychomotor Fibrous dysplasia is a rare bony disorder. It is characterized by disorder. benign fibro-osseous proliferation. Klippel–Trenaunay syn- To rule out polyostotic type fibrous dysplasia, further ques- drome is also a rare congenital disorder. It is characterized by tioning was done. Although she had not realized by herself, non-tumorous hypertrophy of hard and soft tissue with venous physical examination revealed that her right leg was longer or lymphatic malformations. Incidence of both disorders is very than the other (Fig. 3a). Difference in circumferences was not low. Here presented a young lady with both conditions. obvious. Subcutaneous venous dilatation on the lateral side of her right leg was observed (Fig. 3b). Standing radiograph of the CASE REPORT lower extremities showed leg length discrepancy of 31 mm A 17-year-old girl referred to us with a chief complain of a pain- (Fig. 4). In MRI venography (Fig. 5), vein with large caliber run- less bump on her right forehead. She also had a projection on the ning from right lateral lower leg to great saphenous vein was parietal area. She and her family told that the protrusions had observed. Venous density in the right leg was higher than the been observed since she was below teenage and had not changed other, suggesting existence of venous malformation. The condi- forthese 3years. She hadnovisual impairment. Shefelt healthy tion was diagnosed as Klippel–Trenaunay syndrome. and self-reported no other abnormality. X-ray computer tomog- She sometimes had menstrual cycle abnormalities. She pre- raphy scan showed osseous hypertrophic lesions in frontal and sented microcytic anemia with 7.5 g/dl of hemoglobin. parietal bone (Figs 1 and 2). Ground glass appearance of diploe Endocrine tests revealed border line low level of cortisol and implied fibrous dysplasia. Frontal sinus was dilated without adrenocorticotropic hormone. Luteinizing hormone, follicle Received: May 11, 2018. Accepted: July 15, 2018 Published by Oxford University Press and JSCR Publishing Ltd. All rights reserved. © The Author(s) 2018. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/ licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com 1 Downloaded from https://academic.oup.com/jscr/article-abstract/2018/8/rjy192/5068411 by Ed 'DeepDyve' Gillespie user on 16 October 2019 2 S. Nishimoto et al. Figure 3: (a) Right knee is at higher than left. (b) Subdermal hyper-vascularity was observed on the lateral part of her right leg. Figure 1: Slices of skull CT. Hypertrophy of right frontal and parietal bone is observed. Diploe of the hypertrophic part presented ground glass appearance. Frontal sinus was dilated without mucous hypertrophy. Intra-cranial calcification was also observed. Figure 2: Three-dimensional CT of the patient’s skull. Protrusion of right frontal and parietal area was well observed. stimulating hormone, prolactin, thyroid stimulating hormone, growth hormone, somatomedins, renin, aldosterone, dehydroe- piandrosterone sulfate and blood sugar test were all within normal range. Café au lait spot was not eminent. No other fibrous dysplasia lesion, other than in skull was found. Thus, McCune–Albright syndrome was denied. Iron was administered for anemia. Figure 4: Standing radiograph of the lower extremities. Leg length discrepancy Discussion with the patient and her guardians were done was 31 mm. Tibial length discrepancy was 21 mm. for several times. At that time, development of the skull protru- sion seemed to be stopped. Reduction of the prominence, not (Fig. 7). With aid of navigation system (StelthStation: Medtronic, complete resection of the lesions, was planned. No treatment Mineapolis, USA), protruded parietal part was shaved with chisels was planned for Klippel–Trenaunay syndrome. and a motor-driven bur. Most of the protruded frontal bone was From CT scan images, 3D bony models were printed (Fig. 6). At shaved in the same way, but lesions near the frontal sinus was the time of operation, anemic condition improved (11.0 g/dl of scraped with an ultra-sound surgery machine (VarioSurg: NSK- hemoglobin). After coronal incision, scalp flap was raised beneath Nakanishi, Kanuma, Japan) to preserve mucosa. Anterior wall of periosteum, to preserve supra-orbital vascularity of the periosteal, the frontal sinus was removed, but the posterior wall was left which was to be used in case of frontal sinus cranialization Downloaded from https://academic.oup.com/jscr/article-abstract/2018/8/rjy192/5068411 by Ed 'DeepDyve' Gillespie user on 16 October 2019 Fibrous dysplasia and Klippel–Trenaunay syndrome 3 intact. Outer table of left intact area was taken and placed as anterior wall of frontal sinus. It was fixed with an absorbable plate and screws (Fig. 8). Donor site of the bone was filled with calcium phosphate cement (Cerapaste: NGK, Komaki, Japan). Total blood loss was 310 ml and no transfusion was done. The patient and her guardians are happy with the result. Figure 7: The scalp flap was raised subperiosteally. The picture is oriented the orbits and the nose downward. Protrusions on the cranium were observed. Figure 5: MRI venography of the lower extremities. Vascular density in the right Figure 8: After reduction of the protrusions, anterior wall of frontal sinus was leg is higher than in the left. Abnormally large calibered vessel runs from lateral scraped leaving mucosa intact. Outer table of parietal bone was transplanted part of the right lower leg to great saphenous vein. and fixed with an absorbable plate and screws. Figure 6: 3D models made from CT data. Sliced models were also made to observe inner structure. They were referred during the surgery. Downloaded from https://academic.oup.com/jscr/article-abstract/2018/8/rjy192/5068411 by Ed 'DeepDyve' Gillespie user on 16 October 2019 4 S. Nishimoto et al. DISCUSSION CONFLICT OF INTEREST STATEMENT Fibrous dysplasia is a rare condition, that is characterized by The authors have no conflicts of interest relevant to this article benign fibro-osseous proliferation of bone. It was first reported to disclose. in 1872 [1]. It constitutes 7% of bone tumors [2]. The precise prevalence of fibrous dysplasia is unknown, as many patients REFERENCES are asymptomatic. According to Fibrous Dysplasia Foundation, the frequency is estimated to be one out of every 15 000–30 000 1. Menzel A. Ein Fall von Osteofibrom des Unterkiefers. Arch people [3]. Fibrous dysplasia is a genetic disease, in which verti- Klin Chir 1872;13:212–9. cal transmission from parent to offspring is not well- 2. Parekh SG, Donthineni-Rao R, Ricchetti E, Lackman RD. Fibrous documented. Hypothesis that fibrous dysplasia is the result of dysplasia. JAmAcadOrthop Surg 2004;12:305–13. Available from: somatic mutations that occur at some early stage of embryonic http://www.ncbi.nlm.nih.gov/pubmed/15469225. development is generally accepted [4–6] demonstrate that 3. FAQs about FD/MAS. Fibrous Dysplasia Foundation [Internet]. [cited fibrous dysplasia is a disease of the bone marrow stromal cells. 2018 May 3]. Available from: https://www.fibrousdysplasia.org/ The cells, beginning to differentiate osteogenically, altered to disease-information/faqs/. proliferate and produce fibro-osseous masses of fibrous dyspla- 4. Leet AI,Collins MT.Current approach to fibrous dysplasia of sia [4]. The alteration is caused by mutations in the GNAS gene, bone and McCune-Albright syndrome. J Child Orthop 2007;1:3–17. codes for the alpha subunit of the signaling G protein, G α [6]. Available from: http://www.ncbi.nlm.nih.gov/pubmed/19308500. Klippel–Trenaunay syndrome is also a rare congenital con- 5. Bianco P, Robey PG. Diseases of bone and the stromal cell lin- dition, that affects vascular development with hypertrophy of eage. J Bone Miner Res 1999;14:336–41. Available from: http:// soft and hard tissue. It was originally reported by Klippel and doi.wiley.com/10.1359/jbmr.1999.14.3.336. Trenaunay [7]. Hypertrophy of the affected tissue is not neo- 6. Weinstein LS, Shenker A, Gejman PV, Merino MJ, Friedman E, plastic. The precise prevalence of this syndrome is also hard to Spiegel AM. Activating mutations of the stimulatory G protein presume, but according to Forbes et al. [8], the frequency is esti- in the McCune–Albright syndrome. N Engl J Med 1991;325: mated to be 2–5 out of every 100 000 births. Somatic PIK3CA 1688–95. Available from: http://www.nejm.org/doi/abs/10.1056/ mutations are identified in lymphatic malformations asso- NEJM199112123252403. ciated with Klippel–Trenaunay syndrome [9]. 7. Klippel M, Trenaunay P. Du naevus variqueux osteohypertro- Probability of coincidental association of these two rare dis- phique. Arch Gen Med 1900;185:641–72. orders is extremely low. Though, at this moment, there was no 8. Forbes N, Walwyn M, Rao G, Ellis D, Lee MG. Klippel-Trenaunay previous report of the combination of fibrous dysplasia and syndrome. West Indian Med J 2013;62:254–6. Available from: Klippel–Trenaunay syndrome. Fibrous dysplasia presents http://www.ncbi.nlm.nih.gov/pubmed/24564049. tumorous development, but Klippel–Trenaunay syndrome 9. Luks VL, Kamitaki N, Vivero MP, UllerW, Rab R, Bovée JVMG, does not. There could not find certainty, offering logical et al. Lymphatic and other vascular malformative/overgrowth explanation of the association. We concluded that, in this par- disorders are caused by somatic mutations in PIK3CA. J ticular patient, those two rare congenital conditions arose by Pediatr 2015;166:104854. Available from: http://www.ncbi.nlm. coincidence. nih.gov/pubmed/25681199. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Journal of Surgical Case Reports Oxford University Press

Fibrous dysplasia and Klippel–Trenaunay syndrome: a rare association

Loading next page...
 
/lp/oxford-university-press/fibrous-dysplasia-and-klippel-trenaunay-syndrome-a-rare-association-N6mGyW2Nsy

References (10)

Publisher
Oxford University Press
Copyright
Published by Oxford University Press and JSCR Publishing Ltd. All rights reserved. © The Author(s) 2018.
eISSN
2042-8812
DOI
10.1093/jscr/rjy192
Publisher site
See Article on Publisher Site

Abstract

Fibrous dysplasia is a rare congenital disorder, with abnormal hypertrophy of affected bone. A 17-year-old girl with a protru- sion on her right forehead presented and was diagnosed as craniofacial fibrous dysplasia. Although she had no gait problem, her right leg was longer than the other. She had vascular malformation on the right leg. The condition was diagnosed as Klippel–Trénaunay syndrome, which also is a rare disorder. As the prevalence of these disorders is scarce, the probability of coincidental association of them is extremely low. No previous report about the association of fibrous dysplasia and Klippel– Trénaunay syndrome could be found. We concluded that, those two rare congenital disorders arose coincidentally in this patient. mucosal hypertrophy or frontonasal duct stenosis. Multiple intra- INTRODUCTION cranial calcification was observed. She presented no psychomotor Fibrous dysplasia is a rare bony disorder. It is characterized by disorder. benign fibro-osseous proliferation. Klippel–Trenaunay syn- To rule out polyostotic type fibrous dysplasia, further ques- drome is also a rare congenital disorder. It is characterized by tioning was done. Although she had not realized by herself, non-tumorous hypertrophy of hard and soft tissue with venous physical examination revealed that her right leg was longer or lymphatic malformations. Incidence of both disorders is very than the other (Fig. 3a). Difference in circumferences was not low. Here presented a young lady with both conditions. obvious. Subcutaneous venous dilatation on the lateral side of her right leg was observed (Fig. 3b). Standing radiograph of the CASE REPORT lower extremities showed leg length discrepancy of 31 mm A 17-year-old girl referred to us with a chief complain of a pain- (Fig. 4). In MRI venography (Fig. 5), vein with large caliber run- less bump on her right forehead. She also had a projection on the ning from right lateral lower leg to great saphenous vein was parietal area. She and her family told that the protrusions had observed. Venous density in the right leg was higher than the been observed since she was below teenage and had not changed other, suggesting existence of venous malformation. The condi- forthese 3years. She hadnovisual impairment. Shefelt healthy tion was diagnosed as Klippel–Trenaunay syndrome. and self-reported no other abnormality. X-ray computer tomog- She sometimes had menstrual cycle abnormalities. She pre- raphy scan showed osseous hypertrophic lesions in frontal and sented microcytic anemia with 7.5 g/dl of hemoglobin. parietal bone (Figs 1 and 2). Ground glass appearance of diploe Endocrine tests revealed border line low level of cortisol and implied fibrous dysplasia. Frontal sinus was dilated without adrenocorticotropic hormone. Luteinizing hormone, follicle Received: May 11, 2018. Accepted: July 15, 2018 Published by Oxford University Press and JSCR Publishing Ltd. All rights reserved. © The Author(s) 2018. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/ licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com 1 Downloaded from https://academic.oup.com/jscr/article-abstract/2018/8/rjy192/5068411 by Ed 'DeepDyve' Gillespie user on 16 October 2019 2 S. Nishimoto et al. Figure 3: (a) Right knee is at higher than left. (b) Subdermal hyper-vascularity was observed on the lateral part of her right leg. Figure 1: Slices of skull CT. Hypertrophy of right frontal and parietal bone is observed. Diploe of the hypertrophic part presented ground glass appearance. Frontal sinus was dilated without mucous hypertrophy. Intra-cranial calcification was also observed. Figure 2: Three-dimensional CT of the patient’s skull. Protrusion of right frontal and parietal area was well observed. stimulating hormone, prolactin, thyroid stimulating hormone, growth hormone, somatomedins, renin, aldosterone, dehydroe- piandrosterone sulfate and blood sugar test were all within normal range. Café au lait spot was not eminent. No other fibrous dysplasia lesion, other than in skull was found. Thus, McCune–Albright syndrome was denied. Iron was administered for anemia. Figure 4: Standing radiograph of the lower extremities. Leg length discrepancy Discussion with the patient and her guardians were done was 31 mm. Tibial length discrepancy was 21 mm. for several times. At that time, development of the skull protru- sion seemed to be stopped. Reduction of the prominence, not (Fig. 7). With aid of navigation system (StelthStation: Medtronic, complete resection of the lesions, was planned. No treatment Mineapolis, USA), protruded parietal part was shaved with chisels was planned for Klippel–Trenaunay syndrome. and a motor-driven bur. Most of the protruded frontal bone was From CT scan images, 3D bony models were printed (Fig. 6). At shaved in the same way, but lesions near the frontal sinus was the time of operation, anemic condition improved (11.0 g/dl of scraped with an ultra-sound surgery machine (VarioSurg: NSK- hemoglobin). After coronal incision, scalp flap was raised beneath Nakanishi, Kanuma, Japan) to preserve mucosa. Anterior wall of periosteum, to preserve supra-orbital vascularity of the periosteal, the frontal sinus was removed, but the posterior wall was left which was to be used in case of frontal sinus cranialization Downloaded from https://academic.oup.com/jscr/article-abstract/2018/8/rjy192/5068411 by Ed 'DeepDyve' Gillespie user on 16 October 2019 Fibrous dysplasia and Klippel–Trenaunay syndrome 3 intact. Outer table of left intact area was taken and placed as anterior wall of frontal sinus. It was fixed with an absorbable plate and screws (Fig. 8). Donor site of the bone was filled with calcium phosphate cement (Cerapaste: NGK, Komaki, Japan). Total blood loss was 310 ml and no transfusion was done. The patient and her guardians are happy with the result. Figure 7: The scalp flap was raised subperiosteally. The picture is oriented the orbits and the nose downward. Protrusions on the cranium were observed. Figure 5: MRI venography of the lower extremities. Vascular density in the right Figure 8: After reduction of the protrusions, anterior wall of frontal sinus was leg is higher than in the left. Abnormally large calibered vessel runs from lateral scraped leaving mucosa intact. Outer table of parietal bone was transplanted part of the right lower leg to great saphenous vein. and fixed with an absorbable plate and screws. Figure 6: 3D models made from CT data. Sliced models were also made to observe inner structure. They were referred during the surgery. Downloaded from https://academic.oup.com/jscr/article-abstract/2018/8/rjy192/5068411 by Ed 'DeepDyve' Gillespie user on 16 October 2019 4 S. Nishimoto et al. DISCUSSION CONFLICT OF INTEREST STATEMENT Fibrous dysplasia is a rare condition, that is characterized by The authors have no conflicts of interest relevant to this article benign fibro-osseous proliferation of bone. It was first reported to disclose. in 1872 [1]. It constitutes 7% of bone tumors [2]. The precise prevalence of fibrous dysplasia is unknown, as many patients REFERENCES are asymptomatic. According to Fibrous Dysplasia Foundation, the frequency is estimated to be one out of every 15 000–30 000 1. Menzel A. Ein Fall von Osteofibrom des Unterkiefers. Arch people [3]. Fibrous dysplasia is a genetic disease, in which verti- Klin Chir 1872;13:212–9. cal transmission from parent to offspring is not well- 2. Parekh SG, Donthineni-Rao R, Ricchetti E, Lackman RD. Fibrous documented. Hypothesis that fibrous dysplasia is the result of dysplasia. JAmAcadOrthop Surg 2004;12:305–13. Available from: somatic mutations that occur at some early stage of embryonic http://www.ncbi.nlm.nih.gov/pubmed/15469225. development is generally accepted [4–6] demonstrate that 3. FAQs about FD/MAS. Fibrous Dysplasia Foundation [Internet]. [cited fibrous dysplasia is a disease of the bone marrow stromal cells. 2018 May 3]. Available from: https://www.fibrousdysplasia.org/ The cells, beginning to differentiate osteogenically, altered to disease-information/faqs/. proliferate and produce fibro-osseous masses of fibrous dyspla- 4. Leet AI,Collins MT.Current approach to fibrous dysplasia of sia [4]. The alteration is caused by mutations in the GNAS gene, bone and McCune-Albright syndrome. J Child Orthop 2007;1:3–17. codes for the alpha subunit of the signaling G protein, G α [6]. Available from: http://www.ncbi.nlm.nih.gov/pubmed/19308500. Klippel–Trenaunay syndrome is also a rare congenital con- 5. Bianco P, Robey PG. Diseases of bone and the stromal cell lin- dition, that affects vascular development with hypertrophy of eage. J Bone Miner Res 1999;14:336–41. Available from: http:// soft and hard tissue. It was originally reported by Klippel and doi.wiley.com/10.1359/jbmr.1999.14.3.336. Trenaunay [7]. Hypertrophy of the affected tissue is not neo- 6. Weinstein LS, Shenker A, Gejman PV, Merino MJ, Friedman E, plastic. The precise prevalence of this syndrome is also hard to Spiegel AM. Activating mutations of the stimulatory G protein presume, but according to Forbes et al. [8], the frequency is esti- in the McCune–Albright syndrome. N Engl J Med 1991;325: mated to be 2–5 out of every 100 000 births. Somatic PIK3CA 1688–95. Available from: http://www.nejm.org/doi/abs/10.1056/ mutations are identified in lymphatic malformations asso- NEJM199112123252403. ciated with Klippel–Trenaunay syndrome [9]. 7. Klippel M, Trenaunay P. Du naevus variqueux osteohypertro- Probability of coincidental association of these two rare dis- phique. Arch Gen Med 1900;185:641–72. orders is extremely low. Though, at this moment, there was no 8. Forbes N, Walwyn M, Rao G, Ellis D, Lee MG. Klippel-Trenaunay previous report of the combination of fibrous dysplasia and syndrome. West Indian Med J 2013;62:254–6. Available from: Klippel–Trenaunay syndrome. Fibrous dysplasia presents http://www.ncbi.nlm.nih.gov/pubmed/24564049. tumorous development, but Klippel–Trenaunay syndrome 9. Luks VL, Kamitaki N, Vivero MP, UllerW, Rab R, Bovée JVMG, does not. There could not find certainty, offering logical et al. Lymphatic and other vascular malformative/overgrowth explanation of the association. We concluded that, in this par- disorders are caused by somatic mutations in PIK3CA. J ticular patient, those two rare congenital conditions arose by Pediatr 2015;166:104854. Available from: http://www.ncbi.nlm. coincidence. nih.gov/pubmed/25681199.

Journal

Journal of Surgical Case ReportsOxford University Press

Published: Aug 1, 2018

There are no references for this article.