The Journal of Craniofacial Surgery • Volume 25, Number 6, November 2014
FIGURE 2. A, Removal of the intraocular bone. B, Histopathologically, extensive bone formation with accompanying nonhematopoietic bone marrow was observed throughout choroid layers.
osteoma, as well as congenital abnormalities such as persistent hyperplastic primary vitreous, microphthalmos, and buphthalmos.1–4 Phthisis bulbi is the most commonly associated pathology.5 Our patient had a 20-year loss of vision probably owing to a long-standing retinal detachment because he denied any history of ocular trauma. He also had phthisis bulbi of the affected eye. Intraocular ossification may be located in the subretinal area, preretinal area, or both.1–3 The subretinal type is more common in phthisical eyes and typically occurs years after retinal detachment. Although the mechanism is not completely understood, vascular delivery of osteoblasts through choroidal circulation causing the metaplasia of the pluripotent retinal pigment epithelium cells into osteoblastic cells was proposed for subretinal ossification.6 As demonstrated in the B-scan ultrasound of the affected eye, our patient had accompanying retinal detachment, which was the most probable cause of ossification. Our patient had subretinal ossification with nonhematopoietic bone marrow formation confirmed through histopathologic evaluation. Preretinal form of intraocular ossification has been associated with epiretinal membrane in Eales disease and proliferative vitreoretinopathy.4,7 The breakdown of the integrity of internal limiting membrane may allow the migration of retinal pigment epithelium and formation of consequent osseous metaplasia.7 Monselise et al2 reported that compact bone formation might occur in posttraumatic cases, whereas spongy bone formation was usually associated with intraocular inflammation. Our patient did not have a trauma history; however, the bone formation was in compact type with accompanying bone marrow. Knowing that the presence of heterotrophic bone formation in the eye has already been reported, our literature search failed to find an extensive intraocular bone formation such as that in our patient. This clinical report demonstrates that intraocular osseous metaplasia may reach tremendous dimensions.
REFERENCES 1. Finkelstein EM, Boniuk M. Intraocular calcification and hematopoiesis. Am J Ophthalmol 1969;68:683–690 2. Monselise M, Rapaport I, Romem M, et al. Intraocular calcification. Ophthalmologica 1985;190:225–229 3. Vemuganti GK, Honavar SG, Jalali S. Intraocular osseous metaplasia. A clinico-pathological study. Indian J Ophthalmol 2002;50: 183–188 4. Yoon YD, Aaberg TM, Wojno TH, et al. Osseous metaplasia in proliferative vitreoretinopathy. Am J Ophthalmol 1998;125: 558–559 5. Grisanti S, Guiddry C. Transdifferentiation of retinal pigment epithelial cells from epithelial to mesenchymal phenotype. Invest Ophthalmol Vis Sci 1995;36:391–405 6. Pecorella I, Vingolo E, Ciardi A, et al. Scleral ossification in phthisical eyes. Orbit 2006;25:35–38 7. Shah V, Vemuganti GK, Jalali S, et al. Osseous metaplasia in an epiretinal membrane in Eales disease: a case report. Retina 2002;22: 641–643
Brief Clinical Studies
Pachydermoperiostosis: Aesthetic Treatment of Prematurely Aging Face With Facelift and Botulinum Toxin A Ugur Anil Bingol, MD, Can Cinar, MD Abstract: Pachydermoperiostosis is a rare syndrome that hinders patients’ quality of life thru its aesthetic manifestations and functional obstacles. Many techniques for addressing and correcting aesthetic defects associated with pachydermoperiostosis have been introduced, including facelift surgery. This case presentation includes treatment of facial pachydermoperiostosis and restoration of facial aesthetics via treatment with facelift, skin muscle excision, and botulinum toxin A. Key Words: Pachydermoperiostosis, facelift surgery, skin muscle excision, botulinum toxin A
H
ypertrophic osteoarthropathy (HOA) is a syndrome characterized by clubbing of the digits, periostosis, and arthritis. Primary HOA is quite rare, with its frequency not well established, and known in the medical community as both pachydermoperiostosis and TouraineSolante-Gole syndrome. Secondary HOA develops as a consequence of underlying cardiopulmonary malignancy and disease. Ninety-five percent of all cases of HOA are of the secondary classification.1 Apart from digital clubbing, periostosis, and the arthritic changes seen in pachydermoperiostosis, thickening of the scalp and hair-covered skin regions become coarse and lead to a corrugated appearance. The skin overlying patients’ hands and feet become significantly thickened. This syndrome also is characterized by ptosis, seborrhea, and hyperhidrosis. An aged appearance is often seen, because of the thickened and corrugated skin.
CLINICAL REPORT A 23-year-old man presented to our outpatient clinic with complaints of coarse folds and deep grooves in his forehead and an aged appearance (Fig. 1). The patient explained his symptoms began during adolescence, progressively worsening as he entered his 20s and causing him difficulty with socializing and courting women. He also stated that two of his elder brothers had similar facial characteristics. On examination, the patient showed leontiasis ossea (leonine face), hyperhidrosis of his palms and soles, and clubbing and extensive arthritis of the digits. A lateral SMASectomy facelift was performed From the Department of Plastic, Reconstructive and Aesthetic Surgery, Yeditepe Medical School, Yeditepe University. Received February 17, 2014. Accepted for publication June 18, 2014. Address correspondence and reprint requests to Ugur Anil Bingol, MD, Department of Plastic, Reconstructive and Aesthetic Surgery, Yeditepe Medical School, Yeditepe University, Yeditepe Üniversitesi Hastanesi Devlet Yolu Ankara Cad No 102-104 34752, Kozyataği Istanbul, Turkey; E-mail: [email protected] The authors report no conflicts of interest. Copyright © 2014 by Mutaz B. Habal, MD ISSN: 1049-2275 DOI: 10.1097/SCS.0000000000001149
© 2014 Mutaz B. Habal, MD
Copyright © 2014 Mutaz B. Habal, MD. Unauthorized reproduction of this article is prohibited.
e563
The Journal of Craniofacial Surgery • Volume 25, Number 6, November 2014
Brief Clinical Studies
FIGURE 1. Preoperative.
FIGURE 3. Postoperative 1 year.
because of ease of dissection without potential complication. Concurrently, botulinum toxin A was administered as 40U to the forehead. The patient declined direct skin and corrugator muscle excision initially and opted for 50U of botulinum toxin A to his glabellar region as primary intervention to avoid potential surgical scarring. Upon follow-up, botulinum toxin A seemed successful in the forehead region but failed to improve deep grooves at the glabellar region (Fig. 2). As initially recommended, direct skin and corrugator muscle excision was then performed to correct the glabella (Fig. 3). No technical difficulties were seen during the operation, and no complications occurred postoperatively. Malar implant and fat injection were also recommended; however, the patient declined these additional treatments.
lift, secondary glabellar skin and corrugator muscle excision, and concurrent botulinum toxin A to the forehead region. Postoperatively, the forehead showed desired result. The glabella, however, required direct skin and muscle excision, performed at the sixth postoperative month, as botulinum toxin A was ineffective. Primary surgical approach to the glabella was offered but declined by the patient, thus the attempt for aesthetic result in with botulinum toxin A initially. The depth of wrinkles at the glabellar area warranted surgical approach, as the depth of wrinkles in that region was much greater than that of the frontal area, and corrugator muscles were also hypertrophic, as may be seen in Figure 1. In this patient, the primary cause of these deep wrinkles is the thickened dermis, as opposed to repetitive use of corrugator muscles for facial expression. When the forehead region has limited areas of coarse wrinkled skin, botulinum toxin A is considered an effective alternative to excisional procedures (frontal rhytidectomy). For areas of hairy skin and forehead, with pronounced deep wrinkles, direct excision or frontal rhytidectomy provides better results. As the primary pathology seen in pachydermoperiostosis is increased thickening and folding of the skin, as opposed to sagging, endoscopic face rejuvenation is not a suitable treatment option. Traditional facelift operations are the ideal and preferred option for these patients. Although our patient declined fat grafts and malar implants, the addition of these interventions can lead to an optimal aesthetic result. It seems possible that, in patients with facial pachydermoperiostosis, intervention with botulinum toxin A should precede surgical excision, for avoidance of scar tissue formation, and ultimately, the desired aesthetic correction of numerous facial regions and advanced degrees of coarse skin.
DISCUSSION Pachydermoperiostosis or primary hypertrophic osteoarthropathy was first described in 1868 and is a rare syndrome, more prevalent in men than women and with an unknown frequency in the population. As this disease progresses, digital clubbing, pachydermia (skin thickening of the face and scalp), and periostosis are seen. In addition, deeply pronounced folds at the forehead and nasolabial regions appear, along with wrinkled scalp and hair-covered areas (cutis verticis gyrate), which result overall in a “leonine face” appearance. Polyarthritis, seborrheic dermatitis, hyperhidrosis of the palms and soles, and eyelid ptosis all have been identified as parts of this syndrome.2,3 Many patients also complain of excessive sebum production and resultant acne. The most frequently identified symptom is digital clubbing. Three forms of pachydermoperiostosis were defined by Touraine et al. Patients with complete pachydermoperiostosis have both skeletal and skin changes; those with only the skeletal changes are classified as incomplete, and the third category, known as “frusta,” consists of pronounced skin findings lacking or with minimal skeletal involvement. The cause of the disease was determined in 2008 as being a mutation of the 15-hydroxyprostaglandin dehydrogenase enzyme. This enzyme has a role in the degradation of prostaglandins.4 The disease is so rare that its true incidence is unknown to date. It is thought to begin in childhood or adolescence and may continue to progress for 10 years or more before plateauing. Although long bones are mainly affected, involvement of the mandibula and maxilla can be misidentified as acromegaly. There are no specific surgical treatment guidelines for pachydermoperiostosis. Upon literary review, clinical reports show the use of frontal rhytidectomy, blepharoplasty, facelift, and direct skin excision.5–8 We are unaware of any previous use of surgery with concurrent use of botulinum toxin A for the treatment plan of facial pachydermoperiostosis. Our patient underwent primary lateral SMASectomy face-
FIGURE 2. Postoperative 6 months.
e564
REFERENCES 1. Lowenthal MN, Tombak A, Lowenthal A. Secondary hypertrophic osteoarthropathy (HOA) mimicking primary HOA (pachydermoperiostitis or Touraine-Solente-Golé) syndrome. Isr Med Assoc J 2004;6:64 2. Alves AP, Holanda Filha JG, Jeronimo FT, et al. Eyelid ptosis associated with pachydermoperiostosis: case report. Arq Bras Oftalmol 2005; 68:401–404 3. Arinci A, Tümerdem B, Karan MA, et al. Ptosis caused by pachydermoperiostosis. Ann Plast Surg 2002;49:322–325 4. Uppal S, Diggle CP, Carr IM, et al. Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. Nat Genet 2008;40:789–793 5. George L, Sachithanandam K, Gupta A, et al. Frontal rhytidectomy as surgical treatment for pachydermoperiostosis: a case report. J Dermatolog Treat 2008;19:61–63 6. Monteiro E, Carvalho P, Silva A, et al. Frontal rhytidectomy: a new approach to improve deep wrinkles in a case of pachydermoperiostosis. Plast Reconstr Surg 2003;112:1189–1191 7. Seyhan T, Ozerdem OR, Aliagaoglu C. Severe complete pachydermoperiostosis (Touraine-Solente-Golé syndrome). Dermatol Surg 2005;31(11 pt 1):1465–1467 8. Verjee LN, Greig AV, Kirkpatrick WN. Craniofacial strategies for the management of pachydermoperiostosis—a case report and review of the literature. J Plast Reconstr Aesthet Surg 2009;62:e511–e513
© 2014 Mutaz B. Habal, MD
Copyright © 2014 Mutaz B. Habal, MD. Unauthorized reproduction of this article is prohibited.
FIGURE 2. A, Removal of the intraocular bone. B, Histopathologically, extensive bone formation with accompanying nonhematopoietic bone marrow was observed throughout choroid layers.
osteoma, as well as congenital abnormalities such as persistent hyperplastic primary vitreous, microphthalmos, and buphthalmos.1–4 Phthisis bulbi is the most commonly associated pathology.5 Our patient had a 20-year loss of vision probably owing to a long-standing retinal detachment because he denied any history of ocular trauma. He also had phthisis bulbi of the affected eye. Intraocular ossification may be located in the subretinal area, preretinal area, or both.1–3 The subretinal type is more common in phthisical eyes and typically occurs years after retinal detachment. Although the mechanism is not completely understood, vascular delivery of osteoblasts through choroidal circulation causing the metaplasia of the pluripotent retinal pigment epithelium cells into osteoblastic cells was proposed for subretinal ossification.6 As demonstrated in the B-scan ultrasound of the affected eye, our patient had accompanying retinal detachment, which was the most probable cause of ossification. Our patient had subretinal ossification with nonhematopoietic bone marrow formation confirmed through histopathologic evaluation. Preretinal form of intraocular ossification has been associated with epiretinal membrane in Eales disease and proliferative vitreoretinopathy.4,7 The breakdown of the integrity of internal limiting membrane may allow the migration of retinal pigment epithelium and formation of consequent osseous metaplasia.7 Monselise et al2 reported that compact bone formation might occur in posttraumatic cases, whereas spongy bone formation was usually associated with intraocular inflammation. Our patient did not have a trauma history; however, the bone formation was in compact type with accompanying bone marrow. Knowing that the presence of heterotrophic bone formation in the eye has already been reported, our literature search failed to find an extensive intraocular bone formation such as that in our patient. This clinical report demonstrates that intraocular osseous metaplasia may reach tremendous dimensions.
REFERENCES 1. Finkelstein EM, Boniuk M. Intraocular calcification and hematopoiesis. Am J Ophthalmol 1969;68:683–690 2. Monselise M, Rapaport I, Romem M, et al. Intraocular calcification. Ophthalmologica 1985;190:225–229 3. Vemuganti GK, Honavar SG, Jalali S. Intraocular osseous metaplasia. A clinico-pathological study. Indian J Ophthalmol 2002;50: 183–188 4. Yoon YD, Aaberg TM, Wojno TH, et al. Osseous metaplasia in proliferative vitreoretinopathy. Am J Ophthalmol 1998;125: 558–559 5. Grisanti S, Guiddry C. Transdifferentiation of retinal pigment epithelial cells from epithelial to mesenchymal phenotype. Invest Ophthalmol Vis Sci 1995;36:391–405 6. Pecorella I, Vingolo E, Ciardi A, et al. Scleral ossification in phthisical eyes. Orbit 2006;25:35–38 7. Shah V, Vemuganti GK, Jalali S, et al. Osseous metaplasia in an epiretinal membrane in Eales disease: a case report. Retina 2002;22: 641–643
Brief Clinical Studies
Pachydermoperiostosis: Aesthetic Treatment of Prematurely Aging Face With Facelift and Botulinum Toxin A Ugur Anil Bingol, MD, Can Cinar, MD Abstract: Pachydermoperiostosis is a rare syndrome that hinders patients’ quality of life thru its aesthetic manifestations and functional obstacles. Many techniques for addressing and correcting aesthetic defects associated with pachydermoperiostosis have been introduced, including facelift surgery. This case presentation includes treatment of facial pachydermoperiostosis and restoration of facial aesthetics via treatment with facelift, skin muscle excision, and botulinum toxin A. Key Words: Pachydermoperiostosis, facelift surgery, skin muscle excision, botulinum toxin A
H
ypertrophic osteoarthropathy (HOA) is a syndrome characterized by clubbing of the digits, periostosis, and arthritis. Primary HOA is quite rare, with its frequency not well established, and known in the medical community as both pachydermoperiostosis and TouraineSolante-Gole syndrome. Secondary HOA develops as a consequence of underlying cardiopulmonary malignancy and disease. Ninety-five percent of all cases of HOA are of the secondary classification.1 Apart from digital clubbing, periostosis, and the arthritic changes seen in pachydermoperiostosis, thickening of the scalp and hair-covered skin regions become coarse and lead to a corrugated appearance. The skin overlying patients’ hands and feet become significantly thickened. This syndrome also is characterized by ptosis, seborrhea, and hyperhidrosis. An aged appearance is often seen, because of the thickened and corrugated skin.
CLINICAL REPORT A 23-year-old man presented to our outpatient clinic with complaints of coarse folds and deep grooves in his forehead and an aged appearance (Fig. 1). The patient explained his symptoms began during adolescence, progressively worsening as he entered his 20s and causing him difficulty with socializing and courting women. He also stated that two of his elder brothers had similar facial characteristics. On examination, the patient showed leontiasis ossea (leonine face), hyperhidrosis of his palms and soles, and clubbing and extensive arthritis of the digits. A lateral SMASectomy facelift was performed From the Department of Plastic, Reconstructive and Aesthetic Surgery, Yeditepe Medical School, Yeditepe University. Received February 17, 2014. Accepted for publication June 18, 2014. Address correspondence and reprint requests to Ugur Anil Bingol, MD, Department of Plastic, Reconstructive and Aesthetic Surgery, Yeditepe Medical School, Yeditepe University, Yeditepe Üniversitesi Hastanesi Devlet Yolu Ankara Cad No 102-104 34752, Kozyataği Istanbul, Turkey; E-mail: [email protected] The authors report no conflicts of interest. Copyright © 2014 by Mutaz B. Habal, MD ISSN: 1049-2275 DOI: 10.1097/SCS.0000000000001149
© 2014 Mutaz B. Habal, MD
Copyright © 2014 Mutaz B. Habal, MD. Unauthorized reproduction of this article is prohibited.
e563
The Journal of Craniofacial Surgery • Volume 25, Number 6, November 2014
Brief Clinical Studies
FIGURE 1. Preoperative.
FIGURE 3. Postoperative 1 year.
because of ease of dissection without potential complication. Concurrently, botulinum toxin A was administered as 40U to the forehead. The patient declined direct skin and corrugator muscle excision initially and opted for 50U of botulinum toxin A to his glabellar region as primary intervention to avoid potential surgical scarring. Upon follow-up, botulinum toxin A seemed successful in the forehead region but failed to improve deep grooves at the glabellar region (Fig. 2). As initially recommended, direct skin and corrugator muscle excision was then performed to correct the glabella (Fig. 3). No technical difficulties were seen during the operation, and no complications occurred postoperatively. Malar implant and fat injection were also recommended; however, the patient declined these additional treatments.
lift, secondary glabellar skin and corrugator muscle excision, and concurrent botulinum toxin A to the forehead region. Postoperatively, the forehead showed desired result. The glabella, however, required direct skin and muscle excision, performed at the sixth postoperative month, as botulinum toxin A was ineffective. Primary surgical approach to the glabella was offered but declined by the patient, thus the attempt for aesthetic result in with botulinum toxin A initially. The depth of wrinkles at the glabellar area warranted surgical approach, as the depth of wrinkles in that region was much greater than that of the frontal area, and corrugator muscles were also hypertrophic, as may be seen in Figure 1. In this patient, the primary cause of these deep wrinkles is the thickened dermis, as opposed to repetitive use of corrugator muscles for facial expression. When the forehead region has limited areas of coarse wrinkled skin, botulinum toxin A is considered an effective alternative to excisional procedures (frontal rhytidectomy). For areas of hairy skin and forehead, with pronounced deep wrinkles, direct excision or frontal rhytidectomy provides better results. As the primary pathology seen in pachydermoperiostosis is increased thickening and folding of the skin, as opposed to sagging, endoscopic face rejuvenation is not a suitable treatment option. Traditional facelift operations are the ideal and preferred option for these patients. Although our patient declined fat grafts and malar implants, the addition of these interventions can lead to an optimal aesthetic result. It seems possible that, in patients with facial pachydermoperiostosis, intervention with botulinum toxin A should precede surgical excision, for avoidance of scar tissue formation, and ultimately, the desired aesthetic correction of numerous facial regions and advanced degrees of coarse skin.
DISCUSSION Pachydermoperiostosis or primary hypertrophic osteoarthropathy was first described in 1868 and is a rare syndrome, more prevalent in men than women and with an unknown frequency in the population. As this disease progresses, digital clubbing, pachydermia (skin thickening of the face and scalp), and periostosis are seen. In addition, deeply pronounced folds at the forehead and nasolabial regions appear, along with wrinkled scalp and hair-covered areas (cutis verticis gyrate), which result overall in a “leonine face” appearance. Polyarthritis, seborrheic dermatitis, hyperhidrosis of the palms and soles, and eyelid ptosis all have been identified as parts of this syndrome.2,3 Many patients also complain of excessive sebum production and resultant acne. The most frequently identified symptom is digital clubbing. Three forms of pachydermoperiostosis were defined by Touraine et al. Patients with complete pachydermoperiostosis have both skeletal and skin changes; those with only the skeletal changes are classified as incomplete, and the third category, known as “frusta,” consists of pronounced skin findings lacking or with minimal skeletal involvement. The cause of the disease was determined in 2008 as being a mutation of the 15-hydroxyprostaglandin dehydrogenase enzyme. This enzyme has a role in the degradation of prostaglandins.4 The disease is so rare that its true incidence is unknown to date. It is thought to begin in childhood or adolescence and may continue to progress for 10 years or more before plateauing. Although long bones are mainly affected, involvement of the mandibula and maxilla can be misidentified as acromegaly. There are no specific surgical treatment guidelines for pachydermoperiostosis. Upon literary review, clinical reports show the use of frontal rhytidectomy, blepharoplasty, facelift, and direct skin excision.5–8 We are unaware of any previous use of surgery with concurrent use of botulinum toxin A for the treatment plan of facial pachydermoperiostosis. Our patient underwent primary lateral SMASectomy face-
FIGURE 2. Postoperative 6 months.
e564
REFERENCES 1. Lowenthal MN, Tombak A, Lowenthal A. Secondary hypertrophic osteoarthropathy (HOA) mimicking primary HOA (pachydermoperiostitis or Touraine-Solente-Golé) syndrome. Isr Med Assoc J 2004;6:64 2. Alves AP, Holanda Filha JG, Jeronimo FT, et al. Eyelid ptosis associated with pachydermoperiostosis: case report. Arq Bras Oftalmol 2005; 68:401–404 3. Arinci A, Tümerdem B, Karan MA, et al. Ptosis caused by pachydermoperiostosis. Ann Plast Surg 2002;49:322–325 4. Uppal S, Diggle CP, Carr IM, et al. Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. Nat Genet 2008;40:789–793 5. George L, Sachithanandam K, Gupta A, et al. Frontal rhytidectomy as surgical treatment for pachydermoperiostosis: a case report. J Dermatolog Treat 2008;19:61–63 6. Monteiro E, Carvalho P, Silva A, et al. Frontal rhytidectomy: a new approach to improve deep wrinkles in a case of pachydermoperiostosis. Plast Reconstr Surg 2003;112:1189–1191 7. Seyhan T, Ozerdem OR, Aliagaoglu C. Severe complete pachydermoperiostosis (Touraine-Solente-Golé syndrome). Dermatol Surg 2005;31(11 pt 1):1465–1467 8. Verjee LN, Greig AV, Kirkpatrick WN. Craniofacial strategies for the management of pachydermoperiostosis—a case report and review of the literature. J Plast Reconstr Aesthet Surg 2009;62:e511–e513
© 2014 Mutaz B. Habal, MD
Copyright © 2014 Mutaz B. Habal, MD. Unauthorized reproduction of this article is prohibited.
