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Multiple hairy pacinian neurofibromas (nerve-sheath myxomas)
Multiple hairy pacinian neurofibromas (nerve-sheath myxomas) Kevin M c C o r m a c k , M . D . , P h . D . , David Kaplan, M . D . , John C. Murray, M . D . , and Bernard F. Fetter, M . D . D u r h a m , N C Pacinian neurofibromas are unusual tumors with components that resemble Vater-Pacini corpuscles and are probably a variant of nerve-sheath myxoma. Lesions composed predominantly of these structures have occurred on or near the buttocks in three previously reported cases; however, all were solitary and congenital. Two of these patients, with lesions that closely resembled mature Vater-Pacini corpuscles, had underlying skeletal anomalies. Our patient had multiple hairy pacinian neurofibromas (nerve-sheath myxomas) on the buttocks that were not associated with radiographic evidence of an underlying skeletal anomaly. Skeletal anomalies may be associated with "sacrococcygeal paciniomas" but probably not with true pacinian neurofibromas. (J AM ACAD DERMATOL 1988;18:416-19.)
Pacinian neurofibromas are unusual tumors with components that resemble Vater-Pacini corpuscles. W h e n c o m b i n e d with related neoplasms of nerve sheath (e.g., nerve-sheath myxorna, perineurial m y x o m a , neurothecoma, bizarre cutaneous neurofibroma), which probably represent histologic variants o f a single basic type of tumor, l they are still u n c o m m o n . In addition to their being interesting histopathologic entities, these lesions are of clinical significance in that at least two of three previously reported cases, in which they occurred on or near the buttocks, were associated with underlying skeletal anomalies. ~'z We wish to report the case of a child with multiple hairy pacinian neurofibromas (nerve-sheath m y x o m a s ) of the buttocks. CASE REPORT The patient was a 41A-year-old white girl who had had multiple (eight) soft plaques, ranging in diameter
From the Departments of Pathology and Dermatology,Duke University Medical Center. Presented at the American Society of Dermatopathologymeeting, Dec. 4, 1986, New Orleans, La. Reprintrequeststo: Dr. KevinMcCormack,Departmentof Pathology, Box 3712, Duke UniversityMedicalCenter, Durham,NC 27710. 416
to a maximum of 2 cm, on the upper region of her buttocks since about 1 year of age, according to her parents (Fig. 1). The overlying epidermis was slightly hyperpigmented when compared with surrounding nonaffected skin. The lesions had slowly grown since their appearance and had remained asymptomatic. The patient's parents desired evaluation of these lesions because of the appearance in the previous year of pigmented terminal hairs over each of the plaques. The findings of the remainder of the cutaneous examination were unremarkable. No other family members were affected. Otherwise, the patient was healthy, with normal height and weight for her age. A representative 4-mm punch biopsy specimen of a plaque was obtained for light and electron microscopic examination. Sections examined by light microscopy revealed numerous round or ovoid lobules within the dermis and subcutis that surrounded well-formed vellus and terminal hairs (Fig. 2). Mitotic figures were absent and mucin was inconspicuous. Junctional melanocytes were not increased in number. The lobules were composed of relatively uniform spindle cells that palisaded around eosinophilic, anucleate material and resembled rudimentary Vater-Pacini corpuscles. Some of these lobules were composed of cells arranged in a more definite concentric lamellar pattern (Fig. 3). Many cells within these Vater-Pacini corpuscle-like lobgles exhibited positive immunoperoxidase staining for S-100 protein. Examination by transmission electron microscopy also re-
Volume 18 Number 2, Part 2 February 1988
Multiple hairy pacinian neurofibromas
417
Fig. 1. Clinical photograph of patient's buttocks with multiple soft plaques with overlying pigmented terminal hairs. vealed nests of cells with features of Schwann cells, which were surrounded by fibroblasts. Melanosomes were not present within tumor cells. Subsequently, computed tomography of the lower portion of the spine was performed to determine whether skeletal anomalies were present. Sections were taken every 5 mm from the fifth sacral to the first lumbar vertebral body. No spinal abnormalities were detected. DISCUSSION Although neurofibromas not uncommonly contain a few structures that resemble Vater-Pacini corpuscles, it is unusual to find one composed almost entirely of these structures. Approximately 18 cases of pacinian neurofibroma (nerve-sheath myxoma) have been reported (Table I). As with our patient, none of these reported cases were associated with von Recklinghausen's disease. The most common site of occurrence has been the hand, including the digits. There have been three previous cases in which the lesion occurred on or near the buttocks. 2,3 It is of interest that all three of these lesions were congenital and solitary. Of clinical significance was the finding of underlying skeletal anomalies in at least two cases in which the lesions occurred at this anatomic location) In contrast, our patient had multiple lesions that were not associated with radiographic evidence of an underlying skeletal anomaly. There is considerable histologic heterogeneity in reported cases of pacinian neurofibroma (nervesheath myxoma). Those associated with underlying congenital skeletal anomalies were composed
Fig. 2. Photomicrograph of a plaque with numerous rudimentary Vater-Pacini corpuscles in the dermis and subcutis. (Hematoxylin-eosin stain; x 32.)
of very well differentiated Vater-Pacini corpuscles with 2 to 25 onionskin lamellae.3 These congenital lesions lacked other features of a neurofibroma or nerve-sheath myxoma, such as haphazardly arranged fascicles of spindle cells, suggesting that they were malformations rather than neoplasms. 3 Perhaps, as suggested by B a l e ) pure, or true, sacrococcygeal paciniomas are a distinct entity, separate from pacinian neurofibromas (nerve-sheath myxomas), that later may not be associated with an increased risk of coexisting skeletal malformations. REFERENCES
1. Pulitzer DR, Reed RJ, Nerve-sheath myxoma (perineurial myxoma). Am J Dermatopathol 1985;7:409-21. 2. PrichardRW, CusterRP. Pacinian neurofibroma. Cancer 1952;65:297-301. 3. Bale PM. Sacrococcygealpaciniomas. Pathology 1980; 12:231-5. 4. Prose PH, Gherardi GJ, Coblenz A. Pacinian neurofibroma. Arch Dermatol 1957;76:65-9. 5. Toth BB, LongWH, Pleasants JE. Central pacinian neurofibroma of the maxilla. Oral Surg 1975;39:630-4.
418
Journal of the American Academy of Dermatology
M c C o r m a c k et al
r%,~
_..~.2 ~ 7
~
Fig. 3. Photomicrograph of rudimentary Vater-Pacini corpuscle. (Masson's trichrome stain; x 520.) T a b l e I. R e p o r t e d cases o f p a c i n i a n n e u r o f i b r o m a s Report
Age
Site
Prichard and Custer, 2 1952 Prose et al, 4 1957 Toth et al, 5 1975 Weiser, 6 1975
50 yr 18 yr 62 yr 28 yr 11 days
Hand Buttock Foot Maxilla Flank
Bennin et al, 7 1976 MacDonald and Wilson-Jones, s 1977
30 yr
Finger
30 15 34 25 29
yr yr yr yr yr
Thumb Neck Hand Thumb Thumb
25 11 16 35 60
yr yr yr yr yr
Arm Arm Cheek Thumb Finger
Owen, 9 1979 King and Barr, '° 1980
Levi and Curri, H 1980 Bale, 3 1980
Our patient
] Duration
No. of lesions
Many years Since birth 3 yr 1 yr Since birth? 2 yr
One One One One One
1 yr 2 yr Many years Many years Several months 1 yr ? 7 mo 10 yr Years ?
One One One One One
Associated anomalies
One
One One One Multiple
Less than 1 yr
Sacrococcygeal region
Since birth
One ("clumps of mature pacinian corpuscles")
Less than 1 yr
Sacrococcygeal region
Since birth
4.5 yr
Buttock
3.5 yr
One ("clumps of mature pacinian corpuscles' ') Multiple (8)
Posterior lumbosacral bone defect-5 vertebrae long Posterior spina bifida of entire sacrum None
Volume 18 Number 2, Part 2 February 1988
6. Weiser G. An electron microscope study of "Pacinian neurofibroma." Virchows Arch [A] 1975;366:331-40. 7. Bennin B, Barsky S, Salgia K. Pacinian neurofibroma. Arch Dermatol 1976;112:1558. 8. MacDonald DM, Wilson-Jones E. Pacinian neurofibroma. Histopathology 1977;1:247-55. 9. Owen DA. Pacinian neurofibroma. Arch Pathol Lab Med 1979;103:99-100.
Multiple hairy pacinian neurofibromas
10. King DT, Ban" RJ. Bizarre cutaneous neurofibromas. ] Cutaneous Pathol 1980;7:21-31. 11. Levi L, Curri SB. Multiple pacinian neurofibroma and relationship with the finger-tip arterio-venous anastomoses. Br J Dermatol 1980;102:345-9.
Pseudoepitheliomatous, keratotic, micaceous balanitis A clinical lesion with two histologic subsets." hyperplastic dystrophy and verrucous carcinoma Donald Jenkins, Jr., M.D., F.R.C.P.(C),* and Henry R. Jakubovic, M.D., F.R.C.P.(C)** Toronto,
Ontario, Canada
A 58-year-old man presented with a 4-year history of a slowly enlarging, hyperkeratotic plaque on his glans penis that was compatible with a clinical diagnosis of pseudoepitheliomatous, keratotic, micaceous balanitis. The lesion had been treated unsuccessfully on three occasions with superficial shave . excisional biopsies. Complete surgical excision produced excellent cosmetic and functional results with no evidence of recurrence at 3- and 6-month follow-up. A diagnosis of verrucous carcinoma was made on histologic examination of the excised material. Pseudoepitheliomatous, keratotic, micaceous balanitis is a distinctive clinical entity that represents a histologic spectrum ranging from hypertrophic-hyperplastic penile dystrophy to verrucous carcinoma. (J AM ACAD DERMATOL 1988;18:419-22.)
Reports of a rare penile growth, pseudoepitheliomatous, keratotic, micaceous balanitis, delineate a spectrum o f histologic changes that have been reported in association with similar clinical presentations. This penile lesion, described by LortatJacob and Civatte,l'2 is characterized clinically by hyperkeratotic, micaceous growths on the glans penis. The histologic features reported in associ-
ation with this unusual clinical entity have not been uniform. Previous case reports have suggested that this condition shows a low-grade malignant growth potential clinically manifested by its resistance to treatment and its tendency toward local recurfence. 3'4 We present a case report o f this rare penile lesion. CASE R E P O R T
From the Facultyof Medicine, Universityof Toronto,*'** the Division of Dermatology,WellesleyHospital,* and the Divisionof Dermatology, St. Michael's Hospital.** Reprint requests to: Dr. DonaldJenkins, Jr., 31 GraystoneGardens, Toronto, OntarioM8Z 3C2, Canada.
A 58-year-old white man originally presented to the urology service of St. Michael's Hospital in 1981 with phimosis accompanied by symptoms of irritation of the glans penis. He underwent a partial circumcision at that time. A superficial, hyperkeratotic plaque was discov419
Pacinian neurofibromas are unusual tumors with components that resemble Vater-Pacini corpuscles. W h e n c o m b i n e d with related neoplasms of nerve sheath (e.g., nerve-sheath myxorna, perineurial m y x o m a , neurothecoma, bizarre cutaneous neurofibroma), which probably represent histologic variants o f a single basic type of tumor, l they are still u n c o m m o n . In addition to their being interesting histopathologic entities, these lesions are of clinical significance in that at least two of three previously reported cases, in which they occurred on or near the buttocks, were associated with underlying skeletal anomalies. ~'z We wish to report the case of a child with multiple hairy pacinian neurofibromas (nerve-sheath m y x o m a s ) of the buttocks. CASE REPORT The patient was a 41A-year-old white girl who had had multiple (eight) soft plaques, ranging in diameter
From the Departments of Pathology and Dermatology,Duke University Medical Center. Presented at the American Society of Dermatopathologymeeting, Dec. 4, 1986, New Orleans, La. Reprintrequeststo: Dr. KevinMcCormack,Departmentof Pathology, Box 3712, Duke UniversityMedicalCenter, Durham,NC 27710. 416
to a maximum of 2 cm, on the upper region of her buttocks since about 1 year of age, according to her parents (Fig. 1). The overlying epidermis was slightly hyperpigmented when compared with surrounding nonaffected skin. The lesions had slowly grown since their appearance and had remained asymptomatic. The patient's parents desired evaluation of these lesions because of the appearance in the previous year of pigmented terminal hairs over each of the plaques. The findings of the remainder of the cutaneous examination were unremarkable. No other family members were affected. Otherwise, the patient was healthy, with normal height and weight for her age. A representative 4-mm punch biopsy specimen of a plaque was obtained for light and electron microscopic examination. Sections examined by light microscopy revealed numerous round or ovoid lobules within the dermis and subcutis that surrounded well-formed vellus and terminal hairs (Fig. 2). Mitotic figures were absent and mucin was inconspicuous. Junctional melanocytes were not increased in number. The lobules were composed of relatively uniform spindle cells that palisaded around eosinophilic, anucleate material and resembled rudimentary Vater-Pacini corpuscles. Some of these lobules were composed of cells arranged in a more definite concentric lamellar pattern (Fig. 3). Many cells within these Vater-Pacini corpuscle-like lobgles exhibited positive immunoperoxidase staining for S-100 protein. Examination by transmission electron microscopy also re-
Volume 18 Number 2, Part 2 February 1988
Multiple hairy pacinian neurofibromas
417
Fig. 1. Clinical photograph of patient's buttocks with multiple soft plaques with overlying pigmented terminal hairs. vealed nests of cells with features of Schwann cells, which were surrounded by fibroblasts. Melanosomes were not present within tumor cells. Subsequently, computed tomography of the lower portion of the spine was performed to determine whether skeletal anomalies were present. Sections were taken every 5 mm from the fifth sacral to the first lumbar vertebral body. No spinal abnormalities were detected. DISCUSSION Although neurofibromas not uncommonly contain a few structures that resemble Vater-Pacini corpuscles, it is unusual to find one composed almost entirely of these structures. Approximately 18 cases of pacinian neurofibroma (nerve-sheath myxoma) have been reported (Table I). As with our patient, none of these reported cases were associated with von Recklinghausen's disease. The most common site of occurrence has been the hand, including the digits. There have been three previous cases in which the lesion occurred on or near the buttocks. 2,3 It is of interest that all three of these lesions were congenital and solitary. Of clinical significance was the finding of underlying skeletal anomalies in at least two cases in which the lesions occurred at this anatomic location) In contrast, our patient had multiple lesions that were not associated with radiographic evidence of an underlying skeletal anomaly. There is considerable histologic heterogeneity in reported cases of pacinian neurofibroma (nervesheath myxoma). Those associated with underlying congenital skeletal anomalies were composed
Fig. 2. Photomicrograph of a plaque with numerous rudimentary Vater-Pacini corpuscles in the dermis and subcutis. (Hematoxylin-eosin stain; x 32.)
of very well differentiated Vater-Pacini corpuscles with 2 to 25 onionskin lamellae.3 These congenital lesions lacked other features of a neurofibroma or nerve-sheath myxoma, such as haphazardly arranged fascicles of spindle cells, suggesting that they were malformations rather than neoplasms. 3 Perhaps, as suggested by B a l e ) pure, or true, sacrococcygeal paciniomas are a distinct entity, separate from pacinian neurofibromas (nerve-sheath myxomas), that later may not be associated with an increased risk of coexisting skeletal malformations. REFERENCES
1. Pulitzer DR, Reed RJ, Nerve-sheath myxoma (perineurial myxoma). Am J Dermatopathol 1985;7:409-21. 2. PrichardRW, CusterRP. Pacinian neurofibroma. Cancer 1952;65:297-301. 3. Bale PM. Sacrococcygealpaciniomas. Pathology 1980; 12:231-5. 4. Prose PH, Gherardi GJ, Coblenz A. Pacinian neurofibroma. Arch Dermatol 1957;76:65-9. 5. Toth BB, LongWH, Pleasants JE. Central pacinian neurofibroma of the maxilla. Oral Surg 1975;39:630-4.
418
Journal of the American Academy of Dermatology
M c C o r m a c k et al
r%,~
_..~.2 ~ 7
~
Fig. 3. Photomicrograph of rudimentary Vater-Pacini corpuscle. (Masson's trichrome stain; x 520.) T a b l e I. R e p o r t e d cases o f p a c i n i a n n e u r o f i b r o m a s Report
Age
Site
Prichard and Custer, 2 1952 Prose et al, 4 1957 Toth et al, 5 1975 Weiser, 6 1975
50 yr 18 yr 62 yr 28 yr 11 days
Hand Buttock Foot Maxilla Flank
Bennin et al, 7 1976 MacDonald and Wilson-Jones, s 1977
30 yr
Finger
30 15 34 25 29
yr yr yr yr yr
Thumb Neck Hand Thumb Thumb
25 11 16 35 60
yr yr yr yr yr
Arm Arm Cheek Thumb Finger
Owen, 9 1979 King and Barr, '° 1980
Levi and Curri, H 1980 Bale, 3 1980
Our patient
] Duration
No. of lesions
Many years Since birth 3 yr 1 yr Since birth? 2 yr
One One One One One
1 yr 2 yr Many years Many years Several months 1 yr ? 7 mo 10 yr Years ?
One One One One One
Associated anomalies
One
One One One Multiple
Less than 1 yr
Sacrococcygeal region
Since birth
One ("clumps of mature pacinian corpuscles")
Less than 1 yr
Sacrococcygeal region
Since birth
4.5 yr
Buttock
3.5 yr
One ("clumps of mature pacinian corpuscles' ') Multiple (8)
Posterior lumbosacral bone defect-5 vertebrae long Posterior spina bifida of entire sacrum None
Volume 18 Number 2, Part 2 February 1988
6. Weiser G. An electron microscope study of "Pacinian neurofibroma." Virchows Arch [A] 1975;366:331-40. 7. Bennin B, Barsky S, Salgia K. Pacinian neurofibroma. Arch Dermatol 1976;112:1558. 8. MacDonald DM, Wilson-Jones E. Pacinian neurofibroma. Histopathology 1977;1:247-55. 9. Owen DA. Pacinian neurofibroma. Arch Pathol Lab Med 1979;103:99-100.
Multiple hairy pacinian neurofibromas
10. King DT, Ban" RJ. Bizarre cutaneous neurofibromas. ] Cutaneous Pathol 1980;7:21-31. 11. Levi L, Curri SB. Multiple pacinian neurofibroma and relationship with the finger-tip arterio-venous anastomoses. Br J Dermatol 1980;102:345-9.
Pseudoepitheliomatous, keratotic, micaceous balanitis A clinical lesion with two histologic subsets." hyperplastic dystrophy and verrucous carcinoma Donald Jenkins, Jr., M.D., F.R.C.P.(C),* and Henry R. Jakubovic, M.D., F.R.C.P.(C)** Toronto,
Ontario, Canada
A 58-year-old man presented with a 4-year history of a slowly enlarging, hyperkeratotic plaque on his glans penis that was compatible with a clinical diagnosis of pseudoepitheliomatous, keratotic, micaceous balanitis. The lesion had been treated unsuccessfully on three occasions with superficial shave . excisional biopsies. Complete surgical excision produced excellent cosmetic and functional results with no evidence of recurrence at 3- and 6-month follow-up. A diagnosis of verrucous carcinoma was made on histologic examination of the excised material. Pseudoepitheliomatous, keratotic, micaceous balanitis is a distinctive clinical entity that represents a histologic spectrum ranging from hypertrophic-hyperplastic penile dystrophy to verrucous carcinoma. (J AM ACAD DERMATOL 1988;18:419-22.)
Reports of a rare penile growth, pseudoepitheliomatous, keratotic, micaceous balanitis, delineate a spectrum o f histologic changes that have been reported in association with similar clinical presentations. This penile lesion, described by LortatJacob and Civatte,l'2 is characterized clinically by hyperkeratotic, micaceous growths on the glans penis. The histologic features reported in associ-
ation with this unusual clinical entity have not been uniform. Previous case reports have suggested that this condition shows a low-grade malignant growth potential clinically manifested by its resistance to treatment and its tendency toward local recurfence. 3'4 We present a case report o f this rare penile lesion. CASE R E P O R T
From the Facultyof Medicine, Universityof Toronto,*'** the Division of Dermatology,WellesleyHospital,* and the Divisionof Dermatology, St. Michael's Hospital.** Reprint requests to: Dr. DonaldJenkins, Jr., 31 GraystoneGardens, Toronto, OntarioM8Z 3C2, Canada.
A 58-year-old white man originally presented to the urology service of St. Michael's Hospital in 1981 with phimosis accompanied by symptoms of irritation of the glans penis. He underwent a partial circumcision at that time. A superficial, hyperkeratotic plaque was discov419