Pachydermodactyly: First report in a woman Jeffrey C. Draluck, MD,* Alfred W. Kopf, MD, and Emmilia Hodak, M D * New York, New York Pachydermodactyly is a rare form of digital fibromatosis that is characterized by acquired, asymptomatic, protracted connective tissue swellings on the back and sides of a few proximal phalanges or proximal interphalangeal joints. This is the tenth reported case of pachydermodactyly. It has previously been reported only in men; to the best of our knowledge, this is the first woman described with this condition. (J AM ACAD DERMATOL 1992;27:303-5.) Pachydermodactyly is a rare form of digital fibromatosis. It is characterized by acquired, asymptomatic, protracted, connective tissue swellings on the back and sides of several proximal phalanges or proximal interphalangeal (PIP) joints. Histopathologic features include an increased dermal accumulation of collagen and occasionally an increased number of fibroblasts. In the nine prior case reports pachydermodactyly exclusively affected young men. W e present a typical case of pachydermodacytly in a young woman.
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CASE REPORT
A 29-year-old woman had a 15-year history of asymptomatie, fusiform swellings on the medial and lateral aspects of several fingers. She denied any significant trauma and had no arthritic symptoms. Her family history was noncontributory. Physical examination revealed lesions located on the proximal phalanges and PIP joints of the ring and little fingers of her left hand (Fig. 1 ) and the ring and middle fingers of her right hand. The changes were limited to the back and sides of the involved areas and were not circumferential. These lesions were fusiform, firm tumors that were freely mobile. The overlying skin of several lesions showed lichenification. She had full range of motion of all her joints with no tenderness. A roentgenogram of her hands revealed swelling of the soft tissues with no bone or articular abnormalities. Routine laboratory findings were either normal or negative. From the Department of Dermatology, New York University School of Medicine, and the Oncology and Dermatopathology Sections, Skin and Cancer Unit, New York University Medical Center. Reprint requests: Alfred W. Kopf, MD, Department of Dermatology, Oncology Section, Skin and Cancer Unit, New York Umversity Medical Center, 562 First Ave., New York, NY 10016. *Dr. Draluck and Dr. Hodak are Visiting Fellows in the Dermatopathology Section, New York University Medical Center.
16/4/36595
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Fig, 1. Left hand of patient. Note fusiform swellings on sides of ring and little fingers.
Serum rheumatoid factor and antinuclear antibodies were absent. A skin biopsy specimen (Fig. 2) revealed hyperkeratosis, hypergranulosis, slight epidermal hyperplasia overlying a dermis markedly thickened by deposits of collagen, connective tissue mucin, and a slight proliferation of blood vessels. In the reticular dermis the collagen was arranged in a haphazard array. A proliferation of thin collagen fi303
304
Journal of the American Academy of Dermatology
Draluck et aL
Fig. 2. Biopsy specimen from representative lesion. A, On scanning magnification dermis is markedly thickened by deposits of collagen. B, At higher magnification a proliferation of thin collagen fibers intermingled with ribbons of thick abnormal collagen bundles encircle adnexa! structures and blood vessels. (Hematoxylin-eosin stains: A, • B, •
Table I. Clinical features of previously reported cases of pachydermodactyly
Au~or
I Case [ Age I
{ Site
Verbov I
1
19
M
Fleeter et al. 2
2
22
M
Reichert et al. 3
3
16
M
4
20
M
5 6
21 19
M M
7 8 9
22 20 20
M M M
Curley et al,4
Back and sides of the PIP joints of digits 2-4, bilaterally Back and sides of PIP joints of digits 1-4 on right hand and digits 1 and 2 on left hand Back and sides of proximal digits 2-5, bilaterally (outermost aspects of the index and little fingers were uninvolved) Same distribution as case 3
Same distribution as case 3 Sides of PIP joints of digits 2-4 bilaterally Same distribution as case 6 Same distribution as case 6 Same distribution as case 6
Duration
Associated
(yr)
disorders
2
None
7
None
Several
None
10 5
Dupuytren's contractures and carpal tunnel syndrome None None
8 11/2 8 mo
None None None
5
Volume 27 Number 2, Part 2 August 1992
bers intermingled with ribbons of thick abnormal collagen bundles encircled the adnexal structures and blood vessels. An increased number of cytologically benign fibroblasts were also observed. Eosinophilic cytoplasmic inclusions, which are seen in infantile digital fibromatosis, were not found in the fibroblasts. Masson trichrome staining demonstrated an increased number of thick and thin collagen fibers. Verhoeff-van Gieson staining showed a decreased number of elastic fibers, and most prominently, the elastic fibers were thinned and elongated in the fibrous proliferation that surrounded the adnexal structures. Colloidal iron staining revealed increased deposits of connective tissue mucin. A panel of immunohistochemical stains was performed. The fibroblast-like cells in the reticular dermis stained positive with vimentin but failed to stain with actin, macrophage, al-antitrypsin or ai-antichymotrypsin, and factor XIII-related antigen, thus confirming their fibroblastic derivation. The above findings are consistent with a diagnosis of digital fibromatosis. DISCUSSION Pachydermodactyly was first recognized by Verboy in 19 75, I who considered it a variant of"knuckle pads" in the l 9-year-old man he described. Since then eight additional cases of pachydermodactyly have appeared in the literature. All of these case described young men with acquired, protracted, asymptomatic swellings of their proximal phalanges or PIP joints without any underlying systemic disease (Table I). Histopathologic examination in all previously reported cases revealed a dermis that was markedly thickened by deposition of collagen with varying degrees of cellularity; in some cases the overlying epidermis showed hyperkeratosis and acanthosis. In one patient biochemical studies on the
P a c h y d e r m o d a c t y l y in a w o m a n
305
collagen from an involved site showed increased amounts of type III (in a pattern similar to the one reported in Dupuytren's disease) and a small amount of type V collagen, which was not detected in the control. Ultrastructural studies revealed a marked decrease in the collagen fiber diameter in the reticular dermis. The clinical and histopathologic findings in our patient are consonant with previously reported cases of pachydermodactyly. In addition, we noted several histopathologic features that have not been previously reported; specifically, ribbons of abnormally thickened collagen bundles and elongated, thinned elastic fibers in the vicinity of the adnexal structures and an overall decreased number of elastic fibers. Intralesional corticosteroids m a y help improve the cosmetic appearance of the lesions. 4 Total excision is another alternative, but long-term follow-up data are not yet available. Pachydermodactyly appears to be a distinct clinical entity of unknown origin that is not described in standard dermatology textbooks. T o the best of our knowledge, we have described the first woman with pachydermodactyly. Special thanks are owed to Lane Bigler, MD, who provided the photomicrographs. REFERENCES 1. Verbov J. Pachydermodactyly: a variant of the true knuckle pad. Arch Dermatol 1975;111:524. 2. Fleeter TB, Myrie C, Adams JP. Pachydermodactyly: a case report and discussion of the pathologic entity. J Hand Surg 1984;9A:764-6. 3. Reichert CM, Costa J, Barsk-y SH, et al. Clin Orthop 1985;194:252-7. 4. Curley RK, Hudson PM, Marsden RA. Pachydermodactyly:a rare formof digital fibromatosis.Report of four cases.
Clin Exp Dermatol 1991;16:t21-3.
,-
.-
"N
,,
, ,'".
.r 1
.IL~,
'
it ,
CASE REPORT
A 29-year-old woman had a 15-year history of asymptomatie, fusiform swellings on the medial and lateral aspects of several fingers. She denied any significant trauma and had no arthritic symptoms. Her family history was noncontributory. Physical examination revealed lesions located on the proximal phalanges and PIP joints of the ring and little fingers of her left hand (Fig. 1 ) and the ring and middle fingers of her right hand. The changes were limited to the back and sides of the involved areas and were not circumferential. These lesions were fusiform, firm tumors that were freely mobile. The overlying skin of several lesions showed lichenification. She had full range of motion of all her joints with no tenderness. A roentgenogram of her hands revealed swelling of the soft tissues with no bone or articular abnormalities. Routine laboratory findings were either normal or negative. From the Department of Dermatology, New York University School of Medicine, and the Oncology and Dermatopathology Sections, Skin and Cancer Unit, New York University Medical Center. Reprint requests: Alfred W. Kopf, MD, Department of Dermatology, Oncology Section, Skin and Cancer Unit, New York Umversity Medical Center, 562 First Ave., New York, NY 10016. *Dr. Draluck and Dr. Hodak are Visiting Fellows in the Dermatopathology Section, New York University Medical Center.
16/4/36595
.
.
.
:... '...:.:..:
i~:...':..,,......
Fig, 1. Left hand of patient. Note fusiform swellings on sides of ring and little fingers.
Serum rheumatoid factor and antinuclear antibodies were absent. A skin biopsy specimen (Fig. 2) revealed hyperkeratosis, hypergranulosis, slight epidermal hyperplasia overlying a dermis markedly thickened by deposits of collagen, connective tissue mucin, and a slight proliferation of blood vessels. In the reticular dermis the collagen was arranged in a haphazard array. A proliferation of thin collagen fi303
304
Journal of the American Academy of Dermatology
Draluck et aL
Fig. 2. Biopsy specimen from representative lesion. A, On scanning magnification dermis is markedly thickened by deposits of collagen. B, At higher magnification a proliferation of thin collagen fibers intermingled with ribbons of thick abnormal collagen bundles encircle adnexa! structures and blood vessels. (Hematoxylin-eosin stains: A, • B, •
Table I. Clinical features of previously reported cases of pachydermodactyly
Au~or
I Case [ Age I
{ Site
Verbov I
1
19
M
Fleeter et al. 2
2
22
M
Reichert et al. 3
3
16
M
4
20
M
5 6
21 19
M M
7 8 9
22 20 20
M M M
Curley et al,4
Back and sides of the PIP joints of digits 2-4, bilaterally Back and sides of PIP joints of digits 1-4 on right hand and digits 1 and 2 on left hand Back and sides of proximal digits 2-5, bilaterally (outermost aspects of the index and little fingers were uninvolved) Same distribution as case 3
Same distribution as case 3 Sides of PIP joints of digits 2-4 bilaterally Same distribution as case 6 Same distribution as case 6 Same distribution as case 6
Duration
Associated
(yr)
disorders
2
None
7
None
Several
None
10 5
Dupuytren's contractures and carpal tunnel syndrome None None
8 11/2 8 mo
None None None
5
Volume 27 Number 2, Part 2 August 1992
bers intermingled with ribbons of thick abnormal collagen bundles encircled the adnexal structures and blood vessels. An increased number of cytologically benign fibroblasts were also observed. Eosinophilic cytoplasmic inclusions, which are seen in infantile digital fibromatosis, were not found in the fibroblasts. Masson trichrome staining demonstrated an increased number of thick and thin collagen fibers. Verhoeff-van Gieson staining showed a decreased number of elastic fibers, and most prominently, the elastic fibers were thinned and elongated in the fibrous proliferation that surrounded the adnexal structures. Colloidal iron staining revealed increased deposits of connective tissue mucin. A panel of immunohistochemical stains was performed. The fibroblast-like cells in the reticular dermis stained positive with vimentin but failed to stain with actin, macrophage, al-antitrypsin or ai-antichymotrypsin, and factor XIII-related antigen, thus confirming their fibroblastic derivation. The above findings are consistent with a diagnosis of digital fibromatosis. DISCUSSION Pachydermodactyly was first recognized by Verboy in 19 75, I who considered it a variant of"knuckle pads" in the l 9-year-old man he described. Since then eight additional cases of pachydermodactyly have appeared in the literature. All of these case described young men with acquired, protracted, asymptomatic swellings of their proximal phalanges or PIP joints without any underlying systemic disease (Table I). Histopathologic examination in all previously reported cases revealed a dermis that was markedly thickened by deposition of collagen with varying degrees of cellularity; in some cases the overlying epidermis showed hyperkeratosis and acanthosis. In one patient biochemical studies on the
P a c h y d e r m o d a c t y l y in a w o m a n
305
collagen from an involved site showed increased amounts of type III (in a pattern similar to the one reported in Dupuytren's disease) and a small amount of type V collagen, which was not detected in the control. Ultrastructural studies revealed a marked decrease in the collagen fiber diameter in the reticular dermis. The clinical and histopathologic findings in our patient are consonant with previously reported cases of pachydermodactyly. In addition, we noted several histopathologic features that have not been previously reported; specifically, ribbons of abnormally thickened collagen bundles and elongated, thinned elastic fibers in the vicinity of the adnexal structures and an overall decreased number of elastic fibers. Intralesional corticosteroids m a y help improve the cosmetic appearance of the lesions. 4 Total excision is another alternative, but long-term follow-up data are not yet available. Pachydermodactyly appears to be a distinct clinical entity of unknown origin that is not described in standard dermatology textbooks. T o the best of our knowledge, we have described the first woman with pachydermodactyly. Special thanks are owed to Lane Bigler, MD, who provided the photomicrographs. REFERENCES 1. Verbov J. Pachydermodactyly: a variant of the true knuckle pad. Arch Dermatol 1975;111:524. 2. Fleeter TB, Myrie C, Adams JP. Pachydermodactyly: a case report and discussion of the pathologic entity. J Hand Surg 1984;9A:764-6. 3. Reichert CM, Costa J, Barsk-y SH, et al. Clin Orthop 1985;194:252-7. 4. Curley RK, Hudson PM, Marsden RA. Pachydermodactyly:a rare formof digital fibromatosis.Report of four cases.
Clin Exp Dermatol 1991;16:t21-3.
