Congenital Dermatofibrosarcoma Protuberans Variability in Presentation

OBSERVATION Congenital Dermatofibrosarcoma Protuberans Variability in Presentation

Jill M. Weinstein, BS; Beth A. Drolet, MD; Nancy B. Esterly, MD; Maureen Rogers, MD; Bruce S. Bauer, MD; Annette M. Wagner, MD; Anthony J. Mancini, MD

Background: Dermatofibrosarcoma protuberans (DFSP) sentation. Half of the cases in this series occurred in areas is an uncommon low-grade fibrohistiocytic tumor that of the body outside of the typically reported distribu- usually occurs on the trunk or proximal extremities and tion pattern of acquired DFSP and in locations that, there- typically appears during the second to fifth decade of life. fore, may not arouse suspicion of congenital DFSP. It most commonly begins as a red-blue plaque that grows slowly and ultimately becomes nodular. The tumor is as- Conclusions: Given the aggressive local potential and sociated with a high recurrence rate but low metastatic high recurrence rate of DFSP, early diagnosis is prefer- potential. It rarely presents in childhood and is even more able to facilitate appropriate excision. We recommend rarely present at birth. The clinical diagnosis of DFSP in that any infant or child presenting with a cutaneous plaque infancy or childhood may be difficult because, in its early or nodule, even congenital, that does not have charac- stages, the tumor often resembles a vascular birthmark. teristic or diagnostic clinical features undergo tissue biopsy for histologic evaluation. Observations: We studied 6 patients with congenital DFSP who were initially thought to have other diagnoses, highlighting the potential clinical variability in pre- Arch Dermatol. 2003;139:207-211

ERMATOFIBROSARCOMA early stages, DFSP most commonly ap- protuberans (DFSP) is pears as a red-blue plaque that grows slowly an uncommon low-grade over years and ultimately becomes nodu- fibrohistiocytic tumor that lar or protuberant.8 Thus, the clinical diag- occurs on the trunk or nosis of DFSP in infancy or childhood may proximalD extremities in most cases and be difficult because, especially in its early From the Departments of most often appears during the second to stages, the tumor may closely resemble a Pediatric Dermatology fifth decade of life. The incidence of DFSP vascular birthmark. In most reported cases (Ms Weinstein and Drs Wagner is estimated to be 0.8 to 5 cases per mil- of congenital DFSP, the diagnosis was de- and Mancini) and Plastic lion persons per year, or 0.1% of all malig- layed until after several decades of life.7 Al- Surgery (Dr Bauer), nancies.1 Histologically, the tumor con- though congenital or childhood DFSP is of- Northwestern University sists of a proliferation of spindle cells in a ten initially different from the adult form in Feinberg School of Medicine, cartwheel or storiform pattern, with im- appearance, the anatomic distribution of and Division of Dermatology, Children’s Memorial Hospital, munohistochemical stains showing posi- both groups parallels that of the adult form, Northwestern University tivity for CD34 antigen and negativity for with most lesions appearing on the trunk 2 8 Feinberg School of Medicine desmin, S100, and factor XIIIa. The tu- or proximal extremities. (Drs Wagner and Mancini), mor is associated with a high recurrence rate We describe 6 patients with congen- Chicago, Ill; Department of but low metastatic potential. Standard treat- ital DFSP who were initially thought to Pediatric Dermatology, Medical ment for DFSP has traditionally consisted have other conditions, often including a College of Wisconsin and of wide local excision (ie, 3-cm margins). vascular malformation or tumor, and de- Children’s Hospital of However, in recent years, Mohs micro- scribe their presentation and course. The Wisconsin, Milwaukee graphic surgery has evolved as the thera- goal of this report is to highlight the po- (Drs Drolet and Esterly); 3-6 and Department of Pediatric peutic standard of care. tential clinical variability in presentation Dermatology, Royal Alexandra Dermatofibrosarcoma protuberans of congenital DFSP and the importance of Hospital for Children, Sydney, rarely occurs in childhood (around 160 considering this diagnosis in pediatric pa- New South Wales, Australia cases reported) and is even more rarely pres- tients with atypical cutaneous or subcu- (Dr Rogers). ent at birth (21 cases reported).1,2,7-18 In its taneous tumors.

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Patient No./ Age at Appearance/ Clinical Differential Age at DFSP Sex Presentation Anatomic Location Diagnosis Diagnosis Treatment* Follow-up 1/M 2 mo 0.8-cm Flesh-colored Dermoid cyst, glioma, 8 mo Excison with No recurrence in 1 y subcutaneous cephalocele, + margins; of follow-up nodule with dark hamartoma reexcision (3 cm) long hair with tissue surrounding/scalp expansion for repair 2/F 3 y 1 ϫ 2-cm Red-blue Myofibroma, vascular 31⁄2 y Excision with No recurrence in 2 y oval plaque/medial malformation + margins; of follow-up ankle reexcision (1 cm) with − margins 3/M 6 y 1 ϫ 1.5-cm Atrophic Vascular 14 y (Initial excisional Wide excision with Recurrence at 18 y oval plaque with malformation, biopsy at 6 y + margins† with wide blue nodular juvenile reported as fibrous reexcision with center/back fibromatosis, histiocytoma; − margins and skin histiocytoma recurred after 2 y grafting for repair; but biopsy declined no further by parents until 6 y recurrence in6yof later) follow-up 4/F 11⁄2 y 2 Small red Insect bites, 21 mo (Initial Wide excision Recurrent blue nodules/posterior hemangioma excisional biopsy at (margins not nodules within scar neck 11⁄2 y reported as available) at 31⁄2 y (confirmed dermatofibroma; on biopsy as recurred after 5 DFSP); referred for mo) Mohs micrographic surgery, but lost to follow-up 5/M 7 wk 1 ϫ 3-cm Red Subcutaneous fat 5 mo Excision with Mohs micrographic nodule/back necrosis, + margins surgery; no myofibroma, tufted recurrence in3yof angioma, fibrous follow-up hamartoma 6/F 6 mo 0.7 ϫ 1.2-cm Aplasia cutis, 1 y Wide excision Not available Atrophic, intrauterine trauma, (margins not hypopigmented nascent available) plaque/anterior hemangioma thigh

*Plus sign indicates positive; minus sign, negative. †See “Case 3” subsection of the “Report of Cases” section.

REPORT OF CASES ential diagnosis and performed an excisional biopsy, which showed a spindle cell proliferation extending to The clinical features and treatment course of 6 previ- the deep dermis and forming irregularly woven fas- ously unreported cases of congenital DFSP are pre- cicles in a matlike pattern. Immunohistochemical sented in Table 1. Two of the patients are described in studies were positive for CD34 and negative for S100, more detail herein. desmin, HHF-35 (muscle-specific actin), and factor XIIIa. These findings were interpreted as being consis- CASE 1 tent with DFSP. A subsequent reexcision, with negative margins, was performed after tissue expansion, A 2-month-old male presented to the pediatric derma- which enabled primary closure. There has been no tology clinic with a 0.8-cm, firm to slightly cystic, sign of recurrence in 1 year of follow-up. flesh-colored subcutaneous nodule on his midparietal scalp (just to the right of midline; Figure 1) that had CASE 3 been present since birth. Long, darkly pigmented hair was present around the lesion, and there was no vis- A 6-year-old boy was examined by a pediatric surgeon ible sinus pit or ostium. The clinical differential diag- because of a 1ϫ1.5-cm atrophic oval-shaped lesion with nosis at presentation included dermoid cyst, cephalo- a central blue nodule. The lesion presented as a congen- cele, and glioma. After magnetic resonance imaging ital, 0.5-cm atrophic blue plaque on the patient’s back and with contrast was performed, which showed no intra- slowly enlarged, with the appearance of the central nod- cranial abnormalities or neurocutaneous tracts, the ule at 3 years of age. A vascular malformation was sus- patient was referred to the pediatric plastic surgery pected, but duplex scanning of the lesion demonstrated department for excision. The surgeon also considered no flow. The entire lesion was removed at that time and a mixed vascular and neural hamartoma in the differ- was diagnosed initially as a fibrous histiocytoma.

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©2003 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 09/26/2021 Figure 1. Patient 1. Congenital nodule of the midparietal scalp (just off the midline), with surrounding darkly pigmented, elongated hairs (“hair collar sign”). The lesion was removed completely, and histologic examination disclosed dermatofibrosarcoma protuberans.

Two years later, the lesion recurred, and the patient subsequently presented to the pediatric dermatol- Figure 2. Patient 3. Recurrence of congenital dermatofibrosarcoma ogy department at age 12 years with a 4ϫ6-cm gray- protuberans at 12 years of age. The patient presented with a 4ϫ6-cm gray-blue atrophic plaque with a central scar and blue nodule blue atrophic plaque with a central scar and a blue nodule at right upper pole. at the upper pole (Figure 2). The family refused biopsy at that time, but the patient returned at age 14 years, at which time the lesion measured 5ϫ10 cm. Examina- metastatic potential, they have a pronounced tendency tion of a biopsy specimen disclosed a spindle cell tumor to recur, and there are occasional reports of metastases with a storiform pattern and immunohistochemical stud- and death. Metastases have been reported to occur in 1% ies equivocal for smooth-muscle actin and S100 and nega- to 6% of patients and are a poor prognostic sign, most tive for lysozyme, factor VIII, and desmin. These find- often resulting in death within 2 years.1 Multiple and re- ings were interpreted as consistent with DFSP. A wide peatedly recurrent tumors appear to be the greatest risk reexcision was performed with split-thickness grafting factors for metastatic disease, and the lung is the most for repair of the defect. The excision was reported as “pos- common site of metastases (75%) via hematogenous sibly incomplete,” and 1 year later there was an appar- spread.1,19 Most DFSPs present during mid adult life (20-50 ent recurrence at the suspect medial margin of the graft, years of age). Occurrence in pediatric patients is signifi- which was excised but reported only as scar tissue. Three cantly less common (although the frequent delay in di- years later, at age 18 years, a 1-cm mobile subcutaneous agnosis may artificially deflate the figures for age at on- tumor was found at the medial margin of the scar. Ex- set), and occurrence at birth has been described only amination of a biopsy specimen showed a cystic cavity rarely. filled with a soft polyp of tissue, which was found on his- Six patients with congenital DFSP are described tologic evaluation to be consistent with recurrent DFSP. herein, to highlight the potential variability in presenta- A further wide excision, with negative margins, was done tion of these rare tumors. The most commonly consid- with another skin graft for repair. There has been no fur- ered diagnosis included in the differential diagnosis of ther recurrence in 6 years of follow-up. these patients was vascular tumor or malformation (5 of the 6 patients). Other entities included in the differen- COMMENT tial diagnoses included myofibroma, subcutaneous fat necrosis, arthropod bites, fibrous hamartoma, aplasia cu- Dermatofibrosarcoma protuberans is a soft-tissue neo- tis, and intrauterine trauma. In the patient who presented plasm of intermediate malignancy that is considered to with a scalp DFSP, the differential diagnosis included mid- be a low-grade sarcoma. Although DFSP lesions have low line embryologic defects, such as dermoid cyst, glioma,

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Reported Cases1-4,6-12,14 (n = 16) Current Series (n = 6)

Location No. References Age at Diagnosis, y No. Age at Diagnosis, y Trunk 12 2 Not further specified 1 7 30 0 . . . Chest 1 11 49 0 . . . Breast 4 1, 2, 6, 8 13, 13, 15, 25 0 . . . Abdomen 3 4, 11 16, 33, 35 0 . . . Back 3 3, 10, 14 5, 5, 69 2 0.4, 14 Upper extremity 2 0 Shoulder 1 10 6 0 . . . Hand/wrist 1 12 2 0 . . . Lower extremity 2 2 Thigh 1 11 42 1 1 Leg 1 9 13 0 . . . Ankle/foot 0 ...... 1* 3.5 Head/neck 0 2 Scalp 0 ...... 1* 0.6 Neck 0 ...... 1* 3.5

*No previous report of congenital dermatofibrosarcoma protuberans in this anatomic location.

sented with lesions that were either partially or completely nodular. Of the 21 previously reported cases of congenital DFSP, 16 reports included details such as patient age and tumor location. Most of those tumors (14/16) occurred on the trunk or proximal extremity and the others (2/ 16) occurred on the distal extremity. In our series, half of the tumors (3/6) occurred on the trunk or proximal extremity, while the other half occurred on the distal extremity (1/6) and on the head and neck (2/6) (Table 2). Thus, while most of the previously reported cases of congenital DFSP follow the distribution pattern of acquired DFSP on the trunk or proximal extremities, half of the cases presented in this series occurred outside those areas and in locations previously not reported, which there- fore may not arouse suspicion of congenital DFSP. Both congenital and acquired DFSP tumors presenting in infancy or childhood may be misdiagnosed for many years because of their close resemblance to other lesions, especially vascular tumors or malformations. The growth characteristics of the lesion are important in making this distinction clinically, given the slow but steady growth typical of DFSPs. Heman- giomas, on the other hand, grow during the early prolif- erative stage, but eventually enter an involution period of spontaneous regression, which is not typical of DFSP. Vascular malformations exhibit relative stability in size, growing only in proportion to the patient’s growth. However, in some patients, growth characteristics alone are insufficient to distinguish clinically between vascular lesions and DFSP. In these patients, radiologic evaluations (ie, magnetic resonance studies) Figure 3. Patient 4. Recurrent blue nodules within the surgical scar of this may be useful, and the gold standard diagnostic exami- 31⁄2-year-old girl who had undergone initial wide excision for nation is tissue biopsy. dermatofibrosarcoma protuberans 2 years previously. Patient 1 in the current series presented with a lesion on the midline scalp that had surrounding, darkly and cephalocele. In addition, although DFSP presenting pigmented, long hair (“hair collar sign”), a finding re- in infancy or childhood is traditionally described as a ported in infants with cephaloceles, meningoceles, het- plaque (in contrast to the more nodular tumors present- erotopic brain tissue, and membranous aplasia cutis.20 His ing in adulthood), 4 of the 6 children in this series pre- presentation suggested one of these developmental em-

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©2003 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 09/26/2021 bryologic defects, with the unexpected finding of DFSP Memorial Hospital, 2300 Children’s Plaza, Chicago, IL on initial excisional biopsy. This patient’s presentation 60614 (e-mail: [email protected]). is unlike others reported to date and suggests another differential diagnosis that must be included in newborns with congenital scalp nodules with the hair collar sign. REFERENCES Early diagnosis is desirable in any soft-tissue tumor and, in the case of DFSP, is useful in facilitating early 1. Garcia C, Clark RE, Buchanan M. Dermatofibrosarcoma protuberans. Int J Der- matol. 1996;35:867-871. excision, hence treating relatively smaller tumors and sub- 2. Jimenez FJ, Grichnik JM, Buchanan MD, Clark RE. Immunohistochemical mar- sequently minimizing the extent of surgical scarring. Al- gin control applied to Mohs micrographic surgical excision of dermatofibrosarcoma protuberans. 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