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Collagenosis Nuchae: a case report of a rare and often misdiagnosed condition
Journal of Plastic, Reconstructive & Aesthetic Surgery (2007) 60, 320e323
CASE REPORT
Collagenosis Nuchae: a case report of a rare and often misdiagnosed condition* A. Karonidis a,*, H.S. Rigby b, A. Orlando a a
Department of Plastic and Reconstructive Surgery, Frenchay Hospital, North Bristol NHS Trust, Frenchay Park Road, Bristol BS16 1LE, UK b Department of Histopathology, Frenchay Hospital, North Bristol NHS Trust, Frenchay Park Road, Bristol BS16 1LE, UK Received 3 February 2006; accepted 5 March 2006
KEYWORDS Collagenosis Nuchae; Nuchal fibroma; Neck soft tissue tumours; Gardner syndrome
Summary Enzinger and Weiss first described Collagenosis Nuchae (CN) or nuchal fibroma (NF) in 1988. CN is a rare benign soft tissue tumour that arises from the posterior cervical subcutaneous tissue with predilection for the interscapular and paraspinal regions. It is more common in males. CN has been reported in association with trauma, diabetes, scleredema and Gardner’s syndrome. The true incidence of CN is probably higher than recognised and CN should be in the differential diagnosis of head and neck lesions. Histological examination is required for the diagnosis. Careful total excision provides cure and accurate diagnosis. The purpose of this study is to review the epidemiological, clinical, histopathological and radiological features of this rare lesion, which is often misdiagnosed. ª 2006 The British Association of Plastic Surgeons. Published by Elsevier Ltd. All rights reserved.
Case report A 38-year-old man presented with several years history of a firm midline posterior neck mass recently increasing in size. This was most troublesome *
This work has not been presented wholly or in part in any meeting. * Corresponding author. Sifnou 33, Agia Paraskevi, Athens 15343, Greece. Tel: þ44 0 7974 427961 (mobile), þ30 210 6007948 (home); fax: þ30 210 6007948. E-mail address: [email protected] (A. Karonidis).
when he was wearing his motorcycle helmet. He denied a history of previous neck trauma and any other local or systemic pathology. Physical examination revealed a firm non-tender indurated mass, which clinically was felt to be a sebaceous cyst. An elliptical excision revealed an unencapsulated solid grey mass blending with the surrounding tissues measuring 35 25 10 mm. Histopathological examination showed skin and subcutaneous tissue containing dense collagenous connective tissue which partially replaced subcutaneous fat. Entrapped within the lesion were small nerve fibres,
1748-6815/$ - see front matter ª 2006 The British Association of Plastic Surgeons. Published by Elsevier Ltd. All rights reserved. doi:10.1016/j.bjps.2006.03.060
Collagenosis Nuchae nodules of adipose tissue and a very sparse population of fibroblasts. There was neither inflammation nor evidence of necrosis or malignancy (Fig. 1).
Discussion Collagenosis Nuchae (CN) is a benign fibrofatty tumour that typically presents in the dorsal region of the upper neck. It has a predilection for the interscapular and paraspinal region in the cervical area.1,2 Why this lesion affects these anatomical sites is unclear although some authors have suggested trauma.3,4 Involvement of an extranuchal site has been reported,4 including the back or scapular region, shoulder, face, forearm, and trunk. There is male predominance (76%) in all published series. The lesion usually appears in the fourth and fifth decade. Clinically the lesion is usually asymptomatic and slow growing. When it is symptomatic pain is the most common complaint.3 Examination usually reveals a non-tender, mobile, oval or ellipsoid, white, grey or yellow rubbery poorly circumscribed mass in the subcutaneous tissues of the posterior neck or occipital region.1e3 Restricted range of movements of the cervical spine and upper limb has been reported.3,5,6 The diagnosis should be suspected from the location and clinical features. CN is often associated with trauma.3,6 However the role of trauma in the aetiology of CN is unknown.6 CN is also linked with Gardner’s syndrome (GS).4,7 Gardner-Associated Fibroma is similar if not identical to nuchal fibroma (NF) and its identification in the paediatric age group should alert the clinicians to the possibility of underlying GS and to the high risk of development of desmoid tumour.8
Figure 1 Histology of the lesion showing adipose tissue within collagenous tissue with a sparse population of fibroblasts. Small nerves are entrapped within the connective tissue.
321 CN is associated with Diabetes Mellitus (DM) and scleredema. The high incidence of DM in these series strongly suggests a non-random association.4 Scleredema Diabeticorum usually occurs in patients with poorly controlled DM and one case of CN with scleredema has been reported.6 The literature does not in general support a relationship between CN and Dermatofibrosarcoma Protuberans (DFSP). However, a single paper does report a case of an association between these two entities.9 A literature review is given in Table 1. Magnetic Resonance Imaging (MRI) is the imaging modality of choice. Because of their dense fibrous network and minimal water content, these lesions are usually hypo-intense on unenhanced T1 and T2 weighted images. As these lesions are not encapsulated, poorly defined margins and infiltration of fat, muscle, and/or skin may be present. MRI readily identifies the fibrous nature of these lesions. However, while MRI may not be able to differentiate NF from other benign fibrous lesions, it may distinguish malignant lesions such as fibrosarcoma due to the presence of enhancing soft tissue within them.3 Fine Needle Aspiration Cytology may fail to provide a satisfactory diagnosis due to lack of diagnostic material, as the lesion is relatively hypocellular.3 Histopathological examination is required for the diagnosis. Microscopic evaluation reveals sheets of broad hypocellular fibrocollagen bundles with few interspersed mature fibroblasts, adipocytes and minimal evidence of perivascular inflammation.3 Mucin stains are negative.5 The mass commonly radiates into the surrounding fatty tissue in multiple short processes, making en bloc resection difficult. The process is predominantly located in the subcutis. However, in instances in which skin is part of the resection specimen, the dermis is often involved.4 The true incidence of dermal involvement is unknown (Table 1). However from the literature dermal involvement does not appear to signify more aggressive behaviour.4 Small nerves, vessels and underlying skeletal muscles may also be involved, possibly accounting for the symptom of pain.3,4 Elastic stains show scarce, morphologically normal appearing elastic fibres.3 The sparsely scattered fibroblasts have scant cytoplasm and elongated, twisted and tapered nuclei with a single inconspicuous nucleolus. The entrapped peripheral nerve twigs, sometimes exhibit either a splayed appearance similar to that of traumatic neuroma or perineural fibrosis similar to that seen in a Morton’s neuroma.4 The differential diagnosis includes sebaceous cyst, lipoma, fibrolipoma, keloid, hypertrophic
322 Table 1
A. Karonidis et al. Literature review
Source
Cases
Size (mm)
Age (years)
M
F
Der
T
DM
Scler
GS
DF
plp
Lister et al.5 Balachandran et al.1 Michal et al.4 Samadi et al.3 Banney et al.6 Diwan et al.7 Allen2 Diwan and Horenstein9 Present case, 2004
2 9 52 1 1 2 1 1 1
70 35 35 18.5 32 40 20 NA 50 65 35 30 35 10
48 43 40 40 53 37 3 43 38
1 8 42 1 1 1 0 1 0
e 1 10 e e e 1 e e
1 NA NA 1 1 1 NA 1 1
e e e e 1 e e e 1
e e 22 e 1 e e e e
e e e e 1 e e e e
e e 3 e e 2 e
e e 4 e e e 1 e e
Y N N Y Y N Y N N
e
M: male, F: female, Der: dermal involvement, T: trauma; NA: Not available; DM: Diabetes Mellitus; Scler: scleredema; GS: Gardner syndrome; DF: Desmoid Fibromatosis; plp: previous local pathology; Y: Yes; N: No.
scar, elastofibroma, circumscribed storiform collagenoma, connective tissue naevi, collagenous fibroma, scleredema of Buschke, nodular fasciitis, musculoaponeurotic fibromatosis, fibrosarcoma and liposarcoma.3,4,5 A diagnosis of sebaceous cyst can usually be made clinically and easily confirmed by histology. Lipoma or fibrolipoma are composed from mature adipocytes, usually show capsulation without nerve entrapment and therefore can be easily differentiated from CN.1,3 Fibrolipomas generally do not exhibit substantial dermal involvement.4 Nerve entrapment is also seen in benign symmetric lipomatosis (Madelung), but fibrous proliferation and solitary lesions are not features of that lipomatosis.1 Keloid and hypertrophic scars are characterised by matrix-rich mucinous material,3 however, mucin stains are negative in CN.6 Elastofibroma usually presents as an ill defined mass involving the infrascapular chest wall.1,3,4 Elastic fibres are best seen with an elastic stain and have a characteristic appearance with a central core and peripherally radiating filaments.4 Circumscribed storiform collagenoma differs from CN by its dermal location, sharp circumscription and lacking entrapped adipose tissue.4 Connective tissue naevi usually present as slightly elevated small dermal nodules, generally smaller and more superficial than CN and lack deep subcutaneous expansion.4 Collagenous fibroma (desmoplastic fibroblastoma) is a benign soft tissue tumour usually in older men and affects subcutaneous fat, fascia or even muscle. Microscopically they are more cellular than CN and the collagen is less haphazard, more homogenous or myxoid.4,7 Scleredema of Buschke is a largely dermal sclerotic process with thickened dermis, normal numbers of fibroblasts and mucin deposition,6 whereas CN has negative mucin staining and lacks these other histological features.5 Nodular fasciitis is a well circumscribed but unencapsulated mass composed of immature-
appearing fibroblasts with mitoses, small amounts of collagen and prominent vascular proliferation. Clinically it is characterised by a rapidly growing nodule with numbness, paraesthesia and tenderness usually followed by regression within a few months. The history and cellularity, confirmed by histology, can easily distinguish nodular fasciitis from CN.3 Musculoaponeurotic Fibromatosis (Desmoid Tumour) is a locally hypercellular, infiltrative mass, invading into surrounding tissues and is easily distinguished from CN.3,10 There is no evidence that CN is a precursor of musculoaponeurotic fibromatosis.4 Fibrosarcoma is a painless mass composed of spindle shaped cells with scant cytoplasm. Its aggressive, invasive behaviour and histopathological features allow differentiation from CN.3 Liposarcoma is also a growing painless encapsulated lobulated neck mass. There are mature fat cells with pleomorphic nuclei and a rich capillary vascular network differentiating this tumour from CN.3 The treatment of choice for CN is wide local excision as this provides cure and accurate diagnosis. Potentially the lesion can recur. This is probably due to incomplete excision. Usually these recurrences are not destructive and controlled by local re-excision.3,4,6 The literature does not support a role for radiotherapy or Tamoxifen.3,4,6
References 1. Balachandran K, Allen PW, Mac Cormac LB. Nuchal fibroma. A clinopathological study of nine cases. Am J Surg Pathol 1995;19:313e7. 2. Allen P. Nuchal-type fibroma appearance in a desmoid fibromatosis. Am J Surg Pathol 2001;25:828e9. 3. Samadi D, Mc Langhlin R, Li Volsi V, et al. Nuchal fibroma: a clinopathological review. Ann Otol Rhinol Laryngol 2000; 19:52e5. 4. Michal M, Fetsch J, Hes O, et al. Nuchal-type fibroma; a clinicopathologic study of 52 cases. Cancer January 1 1999;85: 156e63.
Collagenosis Nuchae 5. Lister DM, Graham-Brown RA, Burns DA, et al. Collagenosis nuchae e a new entity? Clin Exp Dermatol 1988 Jul;13: 263e4. 6. Banney L, Weedon D, Muir J. Nuchal fibroma associated with scleredema, diabetes mellitus and organic solvent exposure. Australas J Dermatol 2000;41:39e41. 7. Diwan H, Graves E, King J, et al. Nuchal-type fibroma in two related patients with Gardner’s syndrome. Am J Surg Pathol 2000;24:1563e7.
323 8. Wehrli B, Weiss S, Yandow S, et al. Gardner-associated fibromas (GAF) in young patients. Am J Pathol 2001;25: 645e51. 9. Diwan AH, Horenstein MG. Dermatofibrosarcoma protuberans association with nuchal-type fibroma. J Cutan Pathol 2004;31:62e6. 10. Plaat BEC, Balm AJM, Loftus BM, et al. Fibromatoses of the head and neck. Clin Otolaryngol 1995;20: 103e8.
CASE REPORT
Collagenosis Nuchae: a case report of a rare and often misdiagnosed condition* A. Karonidis a,*, H.S. Rigby b, A. Orlando a a
Department of Plastic and Reconstructive Surgery, Frenchay Hospital, North Bristol NHS Trust, Frenchay Park Road, Bristol BS16 1LE, UK b Department of Histopathology, Frenchay Hospital, North Bristol NHS Trust, Frenchay Park Road, Bristol BS16 1LE, UK Received 3 February 2006; accepted 5 March 2006
KEYWORDS Collagenosis Nuchae; Nuchal fibroma; Neck soft tissue tumours; Gardner syndrome
Summary Enzinger and Weiss first described Collagenosis Nuchae (CN) or nuchal fibroma (NF) in 1988. CN is a rare benign soft tissue tumour that arises from the posterior cervical subcutaneous tissue with predilection for the interscapular and paraspinal regions. It is more common in males. CN has been reported in association with trauma, diabetes, scleredema and Gardner’s syndrome. The true incidence of CN is probably higher than recognised and CN should be in the differential diagnosis of head and neck lesions. Histological examination is required for the diagnosis. Careful total excision provides cure and accurate diagnosis. The purpose of this study is to review the epidemiological, clinical, histopathological and radiological features of this rare lesion, which is often misdiagnosed. ª 2006 The British Association of Plastic Surgeons. Published by Elsevier Ltd. All rights reserved.
Case report A 38-year-old man presented with several years history of a firm midline posterior neck mass recently increasing in size. This was most troublesome *
This work has not been presented wholly or in part in any meeting. * Corresponding author. Sifnou 33, Agia Paraskevi, Athens 15343, Greece. Tel: þ44 0 7974 427961 (mobile), þ30 210 6007948 (home); fax: þ30 210 6007948. E-mail address: [email protected] (A. Karonidis).
when he was wearing his motorcycle helmet. He denied a history of previous neck trauma and any other local or systemic pathology. Physical examination revealed a firm non-tender indurated mass, which clinically was felt to be a sebaceous cyst. An elliptical excision revealed an unencapsulated solid grey mass blending with the surrounding tissues measuring 35 25 10 mm. Histopathological examination showed skin and subcutaneous tissue containing dense collagenous connective tissue which partially replaced subcutaneous fat. Entrapped within the lesion were small nerve fibres,
1748-6815/$ - see front matter ª 2006 The British Association of Plastic Surgeons. Published by Elsevier Ltd. All rights reserved. doi:10.1016/j.bjps.2006.03.060
Collagenosis Nuchae nodules of adipose tissue and a very sparse population of fibroblasts. There was neither inflammation nor evidence of necrosis or malignancy (Fig. 1).
Discussion Collagenosis Nuchae (CN) is a benign fibrofatty tumour that typically presents in the dorsal region of the upper neck. It has a predilection for the interscapular and paraspinal region in the cervical area.1,2 Why this lesion affects these anatomical sites is unclear although some authors have suggested trauma.3,4 Involvement of an extranuchal site has been reported,4 including the back or scapular region, shoulder, face, forearm, and trunk. There is male predominance (76%) in all published series. The lesion usually appears in the fourth and fifth decade. Clinically the lesion is usually asymptomatic and slow growing. When it is symptomatic pain is the most common complaint.3 Examination usually reveals a non-tender, mobile, oval or ellipsoid, white, grey or yellow rubbery poorly circumscribed mass in the subcutaneous tissues of the posterior neck or occipital region.1e3 Restricted range of movements of the cervical spine and upper limb has been reported.3,5,6 The diagnosis should be suspected from the location and clinical features. CN is often associated with trauma.3,6 However the role of trauma in the aetiology of CN is unknown.6 CN is also linked with Gardner’s syndrome (GS).4,7 Gardner-Associated Fibroma is similar if not identical to nuchal fibroma (NF) and its identification in the paediatric age group should alert the clinicians to the possibility of underlying GS and to the high risk of development of desmoid tumour.8
Figure 1 Histology of the lesion showing adipose tissue within collagenous tissue with a sparse population of fibroblasts. Small nerves are entrapped within the connective tissue.
321 CN is associated with Diabetes Mellitus (DM) and scleredema. The high incidence of DM in these series strongly suggests a non-random association.4 Scleredema Diabeticorum usually occurs in patients with poorly controlled DM and one case of CN with scleredema has been reported.6 The literature does not in general support a relationship between CN and Dermatofibrosarcoma Protuberans (DFSP). However, a single paper does report a case of an association between these two entities.9 A literature review is given in Table 1. Magnetic Resonance Imaging (MRI) is the imaging modality of choice. Because of their dense fibrous network and minimal water content, these lesions are usually hypo-intense on unenhanced T1 and T2 weighted images. As these lesions are not encapsulated, poorly defined margins and infiltration of fat, muscle, and/or skin may be present. MRI readily identifies the fibrous nature of these lesions. However, while MRI may not be able to differentiate NF from other benign fibrous lesions, it may distinguish malignant lesions such as fibrosarcoma due to the presence of enhancing soft tissue within them.3 Fine Needle Aspiration Cytology may fail to provide a satisfactory diagnosis due to lack of diagnostic material, as the lesion is relatively hypocellular.3 Histopathological examination is required for the diagnosis. Microscopic evaluation reveals sheets of broad hypocellular fibrocollagen bundles with few interspersed mature fibroblasts, adipocytes and minimal evidence of perivascular inflammation.3 Mucin stains are negative.5 The mass commonly radiates into the surrounding fatty tissue in multiple short processes, making en bloc resection difficult. The process is predominantly located in the subcutis. However, in instances in which skin is part of the resection specimen, the dermis is often involved.4 The true incidence of dermal involvement is unknown (Table 1). However from the literature dermal involvement does not appear to signify more aggressive behaviour.4 Small nerves, vessels and underlying skeletal muscles may also be involved, possibly accounting for the symptom of pain.3,4 Elastic stains show scarce, morphologically normal appearing elastic fibres.3 The sparsely scattered fibroblasts have scant cytoplasm and elongated, twisted and tapered nuclei with a single inconspicuous nucleolus. The entrapped peripheral nerve twigs, sometimes exhibit either a splayed appearance similar to that of traumatic neuroma or perineural fibrosis similar to that seen in a Morton’s neuroma.4 The differential diagnosis includes sebaceous cyst, lipoma, fibrolipoma, keloid, hypertrophic
322 Table 1
A. Karonidis et al. Literature review
Source
Cases
Size (mm)
Age (years)
M
F
Der
T
DM
Scler
GS
DF
plp
Lister et al.5 Balachandran et al.1 Michal et al.4 Samadi et al.3 Banney et al.6 Diwan et al.7 Allen2 Diwan and Horenstein9 Present case, 2004
2 9 52 1 1 2 1 1 1
70 35 35 18.5 32 40 20 NA 50 65 35 30 35 10
48 43 40 40 53 37 3 43 38
1 8 42 1 1 1 0 1 0
e 1 10 e e e 1 e e
1 NA NA 1 1 1 NA 1 1
e e e e 1 e e e 1
e e 22 e 1 e e e e
e e e e 1 e e e e
e e 3 e e 2 e
e e 4 e e e 1 e e
Y N N Y Y N Y N N
e
M: male, F: female, Der: dermal involvement, T: trauma; NA: Not available; DM: Diabetes Mellitus; Scler: scleredema; GS: Gardner syndrome; DF: Desmoid Fibromatosis; plp: previous local pathology; Y: Yes; N: No.
scar, elastofibroma, circumscribed storiform collagenoma, connective tissue naevi, collagenous fibroma, scleredema of Buschke, nodular fasciitis, musculoaponeurotic fibromatosis, fibrosarcoma and liposarcoma.3,4,5 A diagnosis of sebaceous cyst can usually be made clinically and easily confirmed by histology. Lipoma or fibrolipoma are composed from mature adipocytes, usually show capsulation without nerve entrapment and therefore can be easily differentiated from CN.1,3 Fibrolipomas generally do not exhibit substantial dermal involvement.4 Nerve entrapment is also seen in benign symmetric lipomatosis (Madelung), but fibrous proliferation and solitary lesions are not features of that lipomatosis.1 Keloid and hypertrophic scars are characterised by matrix-rich mucinous material,3 however, mucin stains are negative in CN.6 Elastofibroma usually presents as an ill defined mass involving the infrascapular chest wall.1,3,4 Elastic fibres are best seen with an elastic stain and have a characteristic appearance with a central core and peripherally radiating filaments.4 Circumscribed storiform collagenoma differs from CN by its dermal location, sharp circumscription and lacking entrapped adipose tissue.4 Connective tissue naevi usually present as slightly elevated small dermal nodules, generally smaller and more superficial than CN and lack deep subcutaneous expansion.4 Collagenous fibroma (desmoplastic fibroblastoma) is a benign soft tissue tumour usually in older men and affects subcutaneous fat, fascia or even muscle. Microscopically they are more cellular than CN and the collagen is less haphazard, more homogenous or myxoid.4,7 Scleredema of Buschke is a largely dermal sclerotic process with thickened dermis, normal numbers of fibroblasts and mucin deposition,6 whereas CN has negative mucin staining and lacks these other histological features.5 Nodular fasciitis is a well circumscribed but unencapsulated mass composed of immature-
appearing fibroblasts with mitoses, small amounts of collagen and prominent vascular proliferation. Clinically it is characterised by a rapidly growing nodule with numbness, paraesthesia and tenderness usually followed by regression within a few months. The history and cellularity, confirmed by histology, can easily distinguish nodular fasciitis from CN.3 Musculoaponeurotic Fibromatosis (Desmoid Tumour) is a locally hypercellular, infiltrative mass, invading into surrounding tissues and is easily distinguished from CN.3,10 There is no evidence that CN is a precursor of musculoaponeurotic fibromatosis.4 Fibrosarcoma is a painless mass composed of spindle shaped cells with scant cytoplasm. Its aggressive, invasive behaviour and histopathological features allow differentiation from CN.3 Liposarcoma is also a growing painless encapsulated lobulated neck mass. There are mature fat cells with pleomorphic nuclei and a rich capillary vascular network differentiating this tumour from CN.3 The treatment of choice for CN is wide local excision as this provides cure and accurate diagnosis. Potentially the lesion can recur. This is probably due to incomplete excision. Usually these recurrences are not destructive and controlled by local re-excision.3,4,6 The literature does not support a role for radiotherapy or Tamoxifen.3,4,6
References 1. Balachandran K, Allen PW, Mac Cormac LB. Nuchal fibroma. A clinopathological study of nine cases. Am J Surg Pathol 1995;19:313e7. 2. Allen P. Nuchal-type fibroma appearance in a desmoid fibromatosis. Am J Surg Pathol 2001;25:828e9. 3. Samadi D, Mc Langhlin R, Li Volsi V, et al. Nuchal fibroma: a clinopathological review. Ann Otol Rhinol Laryngol 2000; 19:52e5. 4. Michal M, Fetsch J, Hes O, et al. Nuchal-type fibroma; a clinicopathologic study of 52 cases. Cancer January 1 1999;85: 156e63.
Collagenosis Nuchae 5. Lister DM, Graham-Brown RA, Burns DA, et al. Collagenosis nuchae e a new entity? Clin Exp Dermatol 1988 Jul;13: 263e4. 6. Banney L, Weedon D, Muir J. Nuchal fibroma associated with scleredema, diabetes mellitus and organic solvent exposure. Australas J Dermatol 2000;41:39e41. 7. Diwan H, Graves E, King J, et al. Nuchal-type fibroma in two related patients with Gardner’s syndrome. Am J Surg Pathol 2000;24:1563e7.
323 8. Wehrli B, Weiss S, Yandow S, et al. Gardner-associated fibromas (GAF) in young patients. Am J Pathol 2001;25: 645e51. 9. Diwan AH, Horenstein MG. Dermatofibrosarcoma protuberans association with nuchal-type fibroma. J Cutan Pathol 2004;31:62e6. 10. Plaat BEC, Balm AJM, Loftus BM, et al. Fibromatoses of the head and neck. Clin Otolaryngol 1995;20: 103e8.