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Juvenile hyaline fibromatosis of the hand in an adult
The Journal of HAND SURGERY
Evans et al.
selection of above-elbow amputation over attempts at reconstruction. Earlier presentation and identification of the lymphoma by soft tissue biopsy would have allowed management with systemic therapy alone. Oncologic suspicions must be included in the differential diagnosis. Muscle debulking should not be performed routinely. A heightened awareness is necessary when one is dealing with muscular infiltration to the upper extremity.
the literature since his original description. 1-sIn the case presented here, a non-Hodgkin’s IU- 1 T-cell lymphoma is documented. This case has several unique aspects: (1) The tumor growth was aggressive. (2) Distal extremity involvement is rare. In fact, no prior forearm presentations could be located in the literature. (3) This is the youngest patient in whom extranodal primary skeletal muscle infiltration has been reported. (4) Despite complex radiographic analysis (magnetic resonance imaging), muscular infiltration is difficult to assess. No discrete mass was identified. Plain x-ray films are frequently nonspecific or normal.‘-5 Cytochemistry and immunohistochemistry studies are essential for the diagnosis of extranodal lymphoma. Differentiation between carcinoma, sarcoma, and lymphoma by light microscopy alone is not reliable. Treatment is still controversial. Type and staging are critical to therapeutic options. Chemotherapy and radiotherapy should be first-line treatment. Decompressive fasciotomies forced operative therapy in the case presented here. Loss of function, nerve exposure, tissue and scar contracture, proximal tumor extension, early need to begin chemotherapy, and the fact that the patient was a poor candidate for reconstruction/rehabilitation prompted
REFERENCES 1. Freeman C, Berg JW, Cutler SJ. Occurrence and prognosis of extranodal lymphomas. Cancer 1972;29:252-60. 2. Schwalke MA, Rodil JV, Vezeridis MP. Primary lymphoma arising in skeletal muscle. Eur J Surg Oncol 1990;16:70-3. 3. Buerger LF, Monteleone PN. Leukemic-lymphomatous infiltration of skeletal muscle: systematic study of 82 autopsy cases. Cancer 1966;19:1416-22. 4. Hung LK, Cheng JCY, Tsao S. Primary malignant lymphoma of the deep tissues of the hand. J HAND SURG 1988;13A:683-6. 5. Travis WD, Banks PM, Reimau HM. Primary extranodal soft tissue lymphoma of the extremities. Am J Surg Path01
1987;11:359-66.
Juvenile hyaline fibromatosis of the hand in an adult Geoffrey
G. Hallock,
MD, Allentown,
A
n unusual consideration in the differential diagnosis of benign solid tumors of the hand is juvenile hyaline fibromatosis. This rare connective tissue disorder appears early in life and is characterized
From the Division of Plastic Surgery, Lehigh Valley Hospital, Allentown,
Pa.
Received for publication 9, 1993.
Aug. 3. 1992; accepted in revised form Feb.
No benefits in any form have been received or will be received from a commercial party related directly or indirectly to the subject of this article. Reprint requests: Geoffrey G. Hallock, MD, 1230 South Cedar Crest Blvd., Suite 306, Allentown, PA 18103. 311147464
614
THE JOURNAL OF HAND SURGERY
Pa.
by numerous dermal or subcutaneous nodules. ‘. ’ These firm, rubbery, translucent masses may ulcerate or otherwise interfere with hand function by their increase in number or size. Flexion contractures are associated with the syndrome but normally involve only major joints and not the hand.3 Skeletal changes include cortical erosions and osteolytic lesions related to erosion from the overlying tumors, soft tissue calcification around joints, and osteoporosis due to joint immobilization from contractures.3, 4 The disorder is also known as systemic hyalinosis or fibromatosis hyalinica multiplex juvenilis.4 Its rarity may create a diagnostic dilemma in the absence of other associated systemic stigmas, including hypertrophic gingivae, stunted growth, or flexion contractures as
Vol. 18A, No. 4 July 1993
Juvenile hyaline jbromutosis
in an adult
615
Fig. 1. Ulcerating nodules of tips of right small and left ring fingers as seen in juvenile hyaline fibromatosis. Note less conspicuous nodules at base of left index finger and both hypothenar areas.
mentioned.3 Mental retardation has been observed infrequently.3 Infantile systemic hyalinosis may represent a severe form in this continuum of diseases wherein concomitant visceral involvement invariably leads to an early death.4 However, sporadic reports of adults surviving to the fifth decade imply that there is variable and incomplete expression of this so-called juvenile disease.2s 3 The number and size of cutaneous nodules in the hand are progressive, and the tumor recurs if it has been incompletely excised.‘, * Case report A 22-year-old Syrian man initially requested removal of several nodules from his right dominant thumb. These nodules had been present for many years but now interfered with the grip necessary for his leisure activities. Similar lesions had been removed from his nose more than 10 years previously. As long as he could remember, there had been other asymptomatic firm nodules in his upper extremities. No other family members had this affliction. At 18 months after wide excision, no recurrence of the thumb nodules was noted, but a progressive increase in size of other acral lesions had resulted in their ulceration and
further interference with normal grip (Fig. 1). These hard nodules appeared to be just beneath the skin. An x-ray film confirmed osteolytic lesions of the distal phalanges of the right small and left ring fingers corresponding with the observed overlying nodules (Fig. 2). At this stage, only tip amputation could be offered with a guarantee for stable wound closure. Although easily mistaken for a common inclusion cyst or a giant cell tumor, the diagnosis of juvenile hyaline fibromatosis was confirmed when the patient produced a pathology report from his prior surgical procedures. Grossly, the nodules were tan, solid, circumscribed but not encapsulated lesions (Fig. 3). Histologic examination showed spindle-shaped cells immersed in a dense, hyalinized stroma of collagen bundles beneath a compact hyperkeratotic epidermal layer (Fig. 4).
Discussion Juvenile hyaline fibromatosis has been reported in siblings’ and in offspring from consanguineous marriages.4 An autosomal recessive pattern of inheritance has been suggested,3 although in the case presented here there was no definite antecedent family history. The precise metabolic defect is not known, but it appears to be a mesenchymal cell disorder in which there is a
616
The Journal of HAND SURGERY
Hallock
Fig. 2. X-ray film of left hand demonstrates distal phalanx underlying ring finger nodule.
destruction
of
Fig. 3. Sectioning of circumscribed surgical specimens dem-
onstrates homogenous appearance of these solid tumors.
Fig. 4. Compressed whirls of spindle-shaped cells within amorphous collagen matrix make up typical microscopic structure of nodule, with no evidence of discrete encapsulation separating tumor from hyperkeratotic stratified squamous epithelium of overlying skin. (Hematoxylin and eosin stain. Original magnification X 10.)
progressive abnormal differentiation to chondroid tissue.5 The translucent nodules characteristically found on the fingers also occur on external portions of the ears and nose.3 Two other forms of cutaneous lesion may be present, including small, fleshy, pearly papules about the face and large subcutaneous tumors elsewhere on the body.3 Characteristic systemic findings, as mentioned, simplify identification of this rare syndrome when the hand is involved. An aggressive surgical approach to eradicate these poorly encapsulated nodules while they are small may obviate the later need for mutilating wide excisions, skin grafts, or even digit amputation. Early excision should preserve function and provide the best esthetic result. Incomplete excisions will invariably result in recurrence.3
Vol. 18A, No. 4 July 1993
Juvenile hyaline jibromatosis in an adult
REFERENCES
4. Kau AE, Rogers M. Juvenile hyaline fibromatosis: au ex-
Woyke S, Domagala W, Markiewicz C. A 19-year followup of multiple juvenile hyaline fibromatosis. J Pediatr Surg 1984;19:302-4. 2. Camarasa JG, Moreno A. Juvenile hyaline fibromatosis. J Am Acad Dermatol 1987;16:881-3. 3. Quintal D, Jackson R. Juvenile hyaline fibromatosis: a 15 year follow-up. Arch Dermatol 1985;121:1062-3. 1.
panded clinicopathologic spectrum. Pediatr Dermatol 1989;6:68-75. 5. Mayer-da-Silva A, Poiares-Baptista A, Rodrigo FG, Teresa-Lopes M. Juvenile hyaline fibromatosis: a histological and histochemical study. Arch Path01 Lab Med 1988;112:928-31.
Treatment and prevention of “hook nail” deformity with anatomic correlation The hook nail deformity is a relatively common complication after fingertip amputation. It can be corrected or prevented with a carefully performed surgical procedure. The nail plate is removed. The redundant nail bed that is folded over the tip of the terminal phalanx is carefully removed with an additional 2 mm that is supported by the terminal phalanx so that wound healing will not draw the nail bed over the tip of the phalanx again. The fingertip is then resurfaced by a V-Y advancement flap, with precautions taken to avoid all tension in the flap. (J Ham SURC 1993;18A:617-20.)
V. P.
Kumar, FRCS, and K. Satku, FRCS, Singapore,
T
he hook nail resulting from an injury to the fingertip is unsightly, and functionally it is a nuisance. Management varies from simple neglect to the osteoplastic lengthening of the terminal phalanx and recession of the nail, complex procedures described by Verdan’ in 1981. In 1983 Atasoy et al.* proposed the antenna operation, which was relatively simpler to perform and hence gained popularity. The latter procedure, however, does not take into account the anatomy of the nail bed. Indeed, standard anatomy texts3-5 and a leading monoFrom the Department National University
of Hand and Reconstructive Microsurgery, Hospital, Singapore, Republic of Singapore.
Received for publication Dec. 22, 1992.
Aug. 25, 1992; accepted
in revised form
No benefits in any form have been received or will be received from a commercial party related directly or indirectly to the subject of this article. Reprint requests: V P Kumar, FRCS, Department of Orthopaedic Surgery, National University of Singapore, National University Hospital, Lower Kent Ridge Road, Singapore 05 11, Republic of Singapore. 3/1/4644a
Republic
of Singapore
graph in hand surgery6 are unclear as to the anatomy of the nail bed, especially its relationsip to the terminal phalanx. Zook et al., ’ in their review of the anatomy and physiology of the perionychium, demonstrated diagramatically that the nail bed extended beyond the limits of the terminal phalanx and rested on the pulp of the digit. We performed dissection on ten cadaver hands and demonstrated that the nail bed in the normal digit is entirely supported by the terminal phalanx and that no part of its rests on the pulp distal to the phalanx (Fig. 1). Loss of a portion of the terminal phalanx in fingertip injuries will allow redundant distal nail bed that is not lost in the injury to fold over the tip of the remnant phalanx (Fig. 2) and hence result in a hook nail. The antenna procedure proposes elevation of the distal portion of the nail bed and initial temporary support of the nail bed by three Kirschner wires passed into the terminal phalanx. Soft tissue support is subsequently provided to the elevated nail bed by a cross-finger flap positioned distal to the phalanx. We believe that this reconstruction is unphysiologic, inasmuch as the nail bed requires bone for support as shown by our dissec-
THE JOURNAL
OF HAND
SURGERY
617
Evans et al.
selection of above-elbow amputation over attempts at reconstruction. Earlier presentation and identification of the lymphoma by soft tissue biopsy would have allowed management with systemic therapy alone. Oncologic suspicions must be included in the differential diagnosis. Muscle debulking should not be performed routinely. A heightened awareness is necessary when one is dealing with muscular infiltration to the upper extremity.
the literature since his original description. 1-sIn the case presented here, a non-Hodgkin’s IU- 1 T-cell lymphoma is documented. This case has several unique aspects: (1) The tumor growth was aggressive. (2) Distal extremity involvement is rare. In fact, no prior forearm presentations could be located in the literature. (3) This is the youngest patient in whom extranodal primary skeletal muscle infiltration has been reported. (4) Despite complex radiographic analysis (magnetic resonance imaging), muscular infiltration is difficult to assess. No discrete mass was identified. Plain x-ray films are frequently nonspecific or normal.‘-5 Cytochemistry and immunohistochemistry studies are essential for the diagnosis of extranodal lymphoma. Differentiation between carcinoma, sarcoma, and lymphoma by light microscopy alone is not reliable. Treatment is still controversial. Type and staging are critical to therapeutic options. Chemotherapy and radiotherapy should be first-line treatment. Decompressive fasciotomies forced operative therapy in the case presented here. Loss of function, nerve exposure, tissue and scar contracture, proximal tumor extension, early need to begin chemotherapy, and the fact that the patient was a poor candidate for reconstruction/rehabilitation prompted
REFERENCES 1. Freeman C, Berg JW, Cutler SJ. Occurrence and prognosis of extranodal lymphomas. Cancer 1972;29:252-60. 2. Schwalke MA, Rodil JV, Vezeridis MP. Primary lymphoma arising in skeletal muscle. Eur J Surg Oncol 1990;16:70-3. 3. Buerger LF, Monteleone PN. Leukemic-lymphomatous infiltration of skeletal muscle: systematic study of 82 autopsy cases. Cancer 1966;19:1416-22. 4. Hung LK, Cheng JCY, Tsao S. Primary malignant lymphoma of the deep tissues of the hand. J HAND SURG 1988;13A:683-6. 5. Travis WD, Banks PM, Reimau HM. Primary extranodal soft tissue lymphoma of the extremities. Am J Surg Path01
1987;11:359-66.
Juvenile hyaline fibromatosis of the hand in an adult Geoffrey
G. Hallock,
MD, Allentown,
A
n unusual consideration in the differential diagnosis of benign solid tumors of the hand is juvenile hyaline fibromatosis. This rare connective tissue disorder appears early in life and is characterized
From the Division of Plastic Surgery, Lehigh Valley Hospital, Allentown,
Pa.
Received for publication 9, 1993.
Aug. 3. 1992; accepted in revised form Feb.
No benefits in any form have been received or will be received from a commercial party related directly or indirectly to the subject of this article. Reprint requests: Geoffrey G. Hallock, MD, 1230 South Cedar Crest Blvd., Suite 306, Allentown, PA 18103. 311147464
614
THE JOURNAL OF HAND SURGERY
Pa.
by numerous dermal or subcutaneous nodules. ‘. ’ These firm, rubbery, translucent masses may ulcerate or otherwise interfere with hand function by their increase in number or size. Flexion contractures are associated with the syndrome but normally involve only major joints and not the hand.3 Skeletal changes include cortical erosions and osteolytic lesions related to erosion from the overlying tumors, soft tissue calcification around joints, and osteoporosis due to joint immobilization from contractures.3, 4 The disorder is also known as systemic hyalinosis or fibromatosis hyalinica multiplex juvenilis.4 Its rarity may create a diagnostic dilemma in the absence of other associated systemic stigmas, including hypertrophic gingivae, stunted growth, or flexion contractures as
Vol. 18A, No. 4 July 1993
Juvenile hyaline jbromutosis
in an adult
615
Fig. 1. Ulcerating nodules of tips of right small and left ring fingers as seen in juvenile hyaline fibromatosis. Note less conspicuous nodules at base of left index finger and both hypothenar areas.
mentioned.3 Mental retardation has been observed infrequently.3 Infantile systemic hyalinosis may represent a severe form in this continuum of diseases wherein concomitant visceral involvement invariably leads to an early death.4 However, sporadic reports of adults surviving to the fifth decade imply that there is variable and incomplete expression of this so-called juvenile disease.2s 3 The number and size of cutaneous nodules in the hand are progressive, and the tumor recurs if it has been incompletely excised.‘, * Case report A 22-year-old Syrian man initially requested removal of several nodules from his right dominant thumb. These nodules had been present for many years but now interfered with the grip necessary for his leisure activities. Similar lesions had been removed from his nose more than 10 years previously. As long as he could remember, there had been other asymptomatic firm nodules in his upper extremities. No other family members had this affliction. At 18 months after wide excision, no recurrence of the thumb nodules was noted, but a progressive increase in size of other acral lesions had resulted in their ulceration and
further interference with normal grip (Fig. 1). These hard nodules appeared to be just beneath the skin. An x-ray film confirmed osteolytic lesions of the distal phalanges of the right small and left ring fingers corresponding with the observed overlying nodules (Fig. 2). At this stage, only tip amputation could be offered with a guarantee for stable wound closure. Although easily mistaken for a common inclusion cyst or a giant cell tumor, the diagnosis of juvenile hyaline fibromatosis was confirmed when the patient produced a pathology report from his prior surgical procedures. Grossly, the nodules were tan, solid, circumscribed but not encapsulated lesions (Fig. 3). Histologic examination showed spindle-shaped cells immersed in a dense, hyalinized stroma of collagen bundles beneath a compact hyperkeratotic epidermal layer (Fig. 4).
Discussion Juvenile hyaline fibromatosis has been reported in siblings’ and in offspring from consanguineous marriages.4 An autosomal recessive pattern of inheritance has been suggested,3 although in the case presented here there was no definite antecedent family history. The precise metabolic defect is not known, but it appears to be a mesenchymal cell disorder in which there is a
616
The Journal of HAND SURGERY
Hallock
Fig. 2. X-ray film of left hand demonstrates distal phalanx underlying ring finger nodule.
destruction
of
Fig. 3. Sectioning of circumscribed surgical specimens dem-
onstrates homogenous appearance of these solid tumors.
Fig. 4. Compressed whirls of spindle-shaped cells within amorphous collagen matrix make up typical microscopic structure of nodule, with no evidence of discrete encapsulation separating tumor from hyperkeratotic stratified squamous epithelium of overlying skin. (Hematoxylin and eosin stain. Original magnification X 10.)
progressive abnormal differentiation to chondroid tissue.5 The translucent nodules characteristically found on the fingers also occur on external portions of the ears and nose.3 Two other forms of cutaneous lesion may be present, including small, fleshy, pearly papules about the face and large subcutaneous tumors elsewhere on the body.3 Characteristic systemic findings, as mentioned, simplify identification of this rare syndrome when the hand is involved. An aggressive surgical approach to eradicate these poorly encapsulated nodules while they are small may obviate the later need for mutilating wide excisions, skin grafts, or even digit amputation. Early excision should preserve function and provide the best esthetic result. Incomplete excisions will invariably result in recurrence.3
Vol. 18A, No. 4 July 1993
Juvenile hyaline jibromatosis in an adult
REFERENCES
4. Kau AE, Rogers M. Juvenile hyaline fibromatosis: au ex-
Woyke S, Domagala W, Markiewicz C. A 19-year followup of multiple juvenile hyaline fibromatosis. J Pediatr Surg 1984;19:302-4. 2. Camarasa JG, Moreno A. Juvenile hyaline fibromatosis. J Am Acad Dermatol 1987;16:881-3. 3. Quintal D, Jackson R. Juvenile hyaline fibromatosis: a 15 year follow-up. Arch Dermatol 1985;121:1062-3. 1.
panded clinicopathologic spectrum. Pediatr Dermatol 1989;6:68-75. 5. Mayer-da-Silva A, Poiares-Baptista A, Rodrigo FG, Teresa-Lopes M. Juvenile hyaline fibromatosis: a histological and histochemical study. Arch Path01 Lab Med 1988;112:928-31.
Treatment and prevention of “hook nail” deformity with anatomic correlation The hook nail deformity is a relatively common complication after fingertip amputation. It can be corrected or prevented with a carefully performed surgical procedure. The nail plate is removed. The redundant nail bed that is folded over the tip of the terminal phalanx is carefully removed with an additional 2 mm that is supported by the terminal phalanx so that wound healing will not draw the nail bed over the tip of the phalanx again. The fingertip is then resurfaced by a V-Y advancement flap, with precautions taken to avoid all tension in the flap. (J Ham SURC 1993;18A:617-20.)
V. P.
Kumar, FRCS, and K. Satku, FRCS, Singapore,
T
he hook nail resulting from an injury to the fingertip is unsightly, and functionally it is a nuisance. Management varies from simple neglect to the osteoplastic lengthening of the terminal phalanx and recession of the nail, complex procedures described by Verdan’ in 1981. In 1983 Atasoy et al.* proposed the antenna operation, which was relatively simpler to perform and hence gained popularity. The latter procedure, however, does not take into account the anatomy of the nail bed. Indeed, standard anatomy texts3-5 and a leading monoFrom the Department National University
of Hand and Reconstructive Microsurgery, Hospital, Singapore, Republic of Singapore.
Received for publication Dec. 22, 1992.
Aug. 25, 1992; accepted
in revised form
No benefits in any form have been received or will be received from a commercial party related directly or indirectly to the subject of this article. Reprint requests: V P Kumar, FRCS, Department of Orthopaedic Surgery, National University of Singapore, National University Hospital, Lower Kent Ridge Road, Singapore 05 11, Republic of Singapore. 3/1/4644a
Republic
of Singapore
graph in hand surgery6 are unclear as to the anatomy of the nail bed, especially its relationsip to the terminal phalanx. Zook et al., ’ in their review of the anatomy and physiology of the perionychium, demonstrated diagramatically that the nail bed extended beyond the limits of the terminal phalanx and rested on the pulp of the digit. We performed dissection on ten cadaver hands and demonstrated that the nail bed in the normal digit is entirely supported by the terminal phalanx and that no part of its rests on the pulp distal to the phalanx (Fig. 1). Loss of a portion of the terminal phalanx in fingertip injuries will allow redundant distal nail bed that is not lost in the injury to fold over the tip of the remnant phalanx (Fig. 2) and hence result in a hook nail. The antenna procedure proposes elevation of the distal portion of the nail bed and initial temporary support of the nail bed by three Kirschner wires passed into the terminal phalanx. Soft tissue support is subsequently provided to the elevated nail bed by a cross-finger flap positioned distal to the phalanx. We believe that this reconstruction is unphysiologic, inasmuch as the nail bed requires bone for support as shown by our dissec-
THE JOURNAL
OF HAND
SURGERY
617