BASIC/CLINICAL SCIENCE
Dermatofibrosarcoma Protuberans in Pediatric Patients: A Report of 17 Cases Claudia J. Posso-De Los Rios, Irene Lara-Corrales, and Nhung Ho Background: Dermatofibrosarcoma protuberans (DFSP) is an uncommon soft tissue tumor. In children, there are acquired and congenital presentations. Due to clinical similarities with other conditions, diagnosis may be delayed. Objective: To review the clinical characteristics and treatment of DFSP in pediatric patients. Methods: A retrospective chart review was performed from January 2002 to September 2012. Inclusion criteria were patients under 18 years of age with a histopathologic diagnosis of DFSP. Data on demographics, clinical characteristics, treatments, and outcomes were collected. Results: Information was gathered from 17 patients; 9 (53%) were female. Congenital lesions were reported in 7 patients. The mean delay of diagnosis was 5.7 years; the most common anatomic location was the trunk in 8 of 17 (47%) cases. Treatment options included wide local surgery, Mohs surgery, and imatinib mesylate. Conclusion: A detailed medical history and identification of the natural course of common conditions seen in pediatric patients are important to identify less common lesions and to suspect DFSP. Contexte: Le dermatofibrosarcome (DFS) de Darier et Ferrand est une tumeur peu fre´quente des tissus mous. Il existe des formes acquises et des formes conge´nitales chez les enfants. La pose du diagnostic peut eˆtre retarde´e en raison de ressemblances cliniques avec d’autres affections. Objectif: L’e´tude visait a` passer en revue les caracte´ristiques cliniques du DFS et de son traitement chez les enfants. Me´thode: Nous avons proce´de´ a` un examen re´trospectif de dossiers me´dicaux, couvrant la pe´riode de janvier 2002 a` septembre 2012. Les crite`res de se´lection comprenaient un aˆge infe´rieur a` 18 ans et un diagnostic histopathologique de DFS. Ont e´galement e´te´ recueillies des donne´es de´mographiques ainsi que des donne´es sur les caracte´ristiques cliniques, les traitements, et les re´sultats cliniques. Re´sultats: Les renseignements recueillis provenaient de 17 patients, dont 9 (53%) e´taient de sexe fe´minin. Des le´sions conge´nitales ont e´te´ releve´es chez 7 patients. Le temps moyen e´coule´ avant la pose du diagnostic e´tait de 5.7 ans, et le sie`ge le plus fre´quent des le´sions e´tait le tronc, dans 8 cas sur 17 (47%). Les traitements comprenaient la chirurgie locale e´largie, la chirurgie de Mohs, et le traitement par le me´sylate d’imatinib. Conclusion: Une anamne`se de´taille´e et la reconnaissance de l’e´volution naturelle d’affections fre´quentes observe´es chez les enfants sont des e´le´ments importants de l’identification de le´sions moins fre´quentes et de la pre´sence pre´sume´e du DFS.
ERMATOFIBROSARCOMA PROTUBERANS (DFSP) is an uncommon low-grade malignant soft tissue tumor.1 A review of over 50,000 patients with tumoral lesions revealed an incidence of less than 0.1%,2 accounting
D
From the Section of Dermatology, The Hospital for Sick Children and University of Toronto, Toronto, ON. Address reprint requests to: Irene Lara-Corrales, MD, MSc, Section of Dermatology, The Hospital for Sick Children, 555 University Avenue, Toronto, ON M5G 1X8; e-mail: [email protected].
DOI 10.2310/7750.2013.13099 # 2014 Canadian Dermatology Association
180
for 18.4% of all cutaneous soft tissue sarcomas.3 Previous reports of DFSP in pediatric patients, including congenital lesions, seemed to indicate a lower incidence than in adults, representing 6% of all cases.4 The incidence is 1 per million in patients under 20 years of age.5 DFSP is classified as congenital and acquired types; subtypes include pigmented (Bednar tumor), atrophic, and multicentric.6 Congenital lesions tend to be more frequent in females7; they have been described as nodular plaque, solitary tumor, dyschromic patch, atrophic plaque, or sclerotic nodular plaque.8 Most acquired lesions have been described as plaques with reddish to bluish discoloration or small, nipple-like nodules; they may
Canadian Dermatology Association | Journal of Cutaneous Medicine and Surgery, Vol 18, No 3 (May/June), 2014: pp 180–185
Dermatofibrosarcoma Protuberans in Pediatric Patients
remain stationary or may grow progressively or rapidly.9 The color varies from reddish, violaceous, bluish, gray, or black to skin-colored lesions.6,9 The clinical differential diagnoses in pediatric patients included a broad number of conditions, such as hemangioma, vascular malformation, pilomatricoma, myofibromatoses, granuloma annulare, hamartoma, glioma, cephalocele, and dermoid cyst.10,11 Histologically, DFSP has been characterized as a moderately cellular neoplasm with atypical CD34-positive spindle cells arranged in a storiform configuration, and factor XIIIa is generally not expressed.12 The National Comprehensive Cancer Network (NCCN) in the United States recommends treating DFSP with wide local excision or Mohs micrographic surgery; radiotherapy or imatinib mesylate is used in cases with recurrences, unresectable tumors, or metastatic disease.13 We report the clinical characteristics and treatment of 17 pediatric patients with a diagnosis of DFSP. Recognizing the natural history of tumoral lesions in pediatric dermatology and having a high index of suspicion may facilitate an early diagnosis and prompt treatment of DFSP.
Methods A retrospective chart review was carried out at The Hospital for Sick Children (HSC) in Toronto, a tertiary pediatric health center. Inclusion criteria included pediatric patients (age , 18 years) with a histopathologic diagnosis of DFSP. A search to identify patients was conducted in the electronic health records database from January 1, 2002, to September 30, 2012. A manual chart review was performed. Data collection forms were completed for patients’ demographics, age at onset, differential diagnoses, type and location of lesions, presence of pain or trauma, treatment, outcome, and follow-up duration. Lesions described as ‘‘mass or tumoral lesions’’ were evaluated and classified using pictures and size when available. Analysis of the information was done using descriptive statistics tools (Stata 10 [StataCorp, College Station, TX] and Excel 2010 [Microsoft, Redmond, CA]). Approval from the HSC Research Ethics Board was obtained to complete this study.
Results We gathered information from 17 patients; 9 (53%) were female, and 7 (41%) cases were congenital. Five (29%) patients with a confirmed histopathologic diagnosis through excisional biopsy were referred to the HSC from specialists other than dermatologists or pediatric dermatologists.
The mean age at diagnosis was 7.9 6 4.5 years. Delay in making the diagnosis was estimated by subtracting the age at presentation from the age at diagnosis; we found a mean delay of diagnosis of 5.7 6 4.0 (range 1–12) years. Lesions were identified in the trunk in 8 of 17 (47%) patients, followed by extremities in 7 of 17 (41%) and other areas in 2 of 17 (12%) patients. Size varied from 1 to 7 cm in 14 lesions (mean 2.9 6 1.8 cm). Table 1 summarizes the patients’ characteristics. We found that 7 of 17 (41%) lesions were classified as ‘‘other descriptions’’ for terms such as ‘‘mass,’’ ‘‘tumoral lesion,’’ and ‘‘lump’’; 5 of these cases were referred to the HSC after excisional biopsies were performed, and 2 cases were treated by clinics at HSC other than the pediatric dermatology clinic. Size $ 3 cm was observed in 4 of those lesions. Pain was reported in five cases, and one patient had a positive history of trauma related to onset of the lesion (vaccination area). Three cases (18%) were referred for dermatology evaluation due to inflammatory changes secondary to trauma in a preexisting lesion. Clinical presentations are shown in Figure 1, Figure 2, Figure 3, and Figure 4. The clinical differential diagnosis included hemangioma, vascular malformation, kaposiform hemangioendothelioma, cysts, keloid, myofibroma, pilomatricoma, lipoma, fibroma, and lymphoma. DFSP with plaque or scar-like lesions were initially considered aplasia cutis, resolved morphea, resolved hemangioma, or congenital atrophoderma. Six patients (35%) had an excisional biopsy with positive margins for DFSP when the diagnosis was not suspected. Treatments included wide local excision in 15 of 17 (88%) and Mohs surgery in 1 of 17 (6%) cases; imatinib mesylate was used in 1 (6%) case. Surgery margins for excisions varied between 1 and 4 cm according to the type of lesion and anatomic distribution. Positive margins were found in 2 of 15 (13%) cases after surgery (initial margins of 1 cm for one case and not specified for the other). Both patients underwent a surgical reintervention, achieving negative margins. The patient treated initially with imatinib mesylate required surgery 11 months later, once the reduction in lesion size was obtained successfully, achieving negative margins. Fifteen patients (88%) continued to be followed at the HSC, and the mean follow-up was of 3.0 6 3.5 years (range 1 month to 8 years). There was no history of recurrences or metastasis.
Discussion DFSP is more common between the second and fifth decades of life.2,14,15 In a report of 115 patients including
Canadian Dermatology Association | Journal of Cutaneous Medicine and Surgery, Vol 18, No 3 (May/June), 2014: pp 180–185
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Posso-De Los Rios et al
Table 1. Characteristics of Pediatric Patients with Dermatofibrosarcoma Protuberans Characteristic Sex (%) Female Male Mean age at onset (yr) Mean age at diagnosis (yr) Mean delay of diagnosis (yr) Mean size (cm) (n 5 14) Anatomic distribution (%) Trunk Back Abdomen Chest Extremities Lower extremities Upper extremities Other Genital area Scalp Type of lesions Other descriptions* Nodule Atrophic plaque Nodular plaque
Total
Congenital (n 5 7)
Acquired (n 5 10)
9 (53) 8 (47) 2.6 6 4.1 7.9 6 4.5 5.7 6 4 2.9 6 1.8
4 3 At birth 6.1 6 3.1 6.1 6 3.1 3 6 1.4
5 5 6 6 6 6
8 (47) 4 3 1 7 (41) 6 1 2 (12) 1 1 7 6 2 2
(41) (35) (12) (12)
4.7 9.1 5.3 2.9
2 1 1
2 2 —
2 —
4 1
— 1
1 —
4 2 1 2
3 4 1 —
4.6 5.1 4.7 2.1
*Include terms such as ‘‘mass,’’ ‘‘tumoral lesion,’’ and ‘‘lump.’’
adults and children, DFSP lesions were noted during the first decade of life in 10 of 115 (9%) cases and before 20 years of age in 24 of 115 (21%) cases.9 We report 17 pediatric cases over a 10-year period, including 7 cases with a congenital presentation. There were two similar series from France and the United States, each reporting 15 pediatric acquired cases (including 2 patients at 18 years of age) over a period of evaluation of 13 and 30 years, respectively.16,17 An additional publication included a group of 28 pediatric patients with DFSP, giant cell fibroblastoma, and hybrid lesions from six institutions and personal consultations over 12 years.18 We found a slight female predominance, as previously noted in pediatric series1,8,11,17,19; however, this observation may be due to small sample sizes of pediatric case reports. Other studies have reported a male predominance in studies including children and adult populations.2,7,9,14,20 A recent epidemiologic report noted that gender variability in adults has been observed in different studies.21 There is a lack of studies evaluating susceptibility factors associated with gender in this condition. The most common location of DFSP lesions in our cases was the trunk followed by the extremities, as previously 182
reported in pediatric series1,11,16,17,22; however, it is important to mention that any anatomic distribution is possible.9 Congenital DFSP is frequently found in the trunk and upper extremities; however, there are reports of variable anatomic distribution.10,19 The clinically predominant presentation of lesions in our cases described as tumors or nodules in both groups may be compatible with longstanding lesions and delay of diagnosis, suggesting that tumoral lesions were in the protuberant stage of growth.23 The mean age at diagnosis for cases with acquired lesions was lower than previously reported in other similar series (11.9–13 years).16,17 Delay of diagnosis was similar to that reported by other authors, which varied from months to 16 years.9,11,19,24 An indolent course and painful lesions were reported in case series.2,9,25 In our study, painful lesions were noted in almost one-third of cases. Trauma has been a controversial factor associated with onset of lesions.2 One of our patients developed a lesion within the site of a previous vaccination; this association has been noted in previous reports.1,18 Interestingly, local trauma favored a dermatologic evaluation in 3 (18%) of our 17 cases. We consider the trauma in these cases to be an event that attracted attention on a previously existing
Canadian Dermatology Association | Journal of Cutaneous Medicine and Surgery, Vol 18, No 3 (May/June), 2014: pp 180–185
Dermatofibrosarcoma Protuberans in Pediatric Patients
Figure 3. Congenital nodular plaque on the scalp of a 2-year-old boy.
Figure 1. Congenital nodule on the back of a 6-year-old female.
lesion favoring the theory of trauma as a coincidental finding.2 Clinical suspicion is important to address appropriate diagnostic investigations in DFSP; histopathology may also be challenging, particularly if small biopsies are evaluated.19,26 More than 10 differential diagnoses were considered in our cases, including hemangiomas, vascular malformations, and benign tumoral lesions more frequently seen in pediatric patients, which might be misleading and delay intervention. A detailed medical history and meticulous description of lesion changes are useful to identify the natural history of lesions seen in pediatric patients. This information may be more important than gender and anatomic distribution when DFSP is suspected. For instance, infantile hemangiomas, the most common tumor in infancy, occurring in 4 to 5% of the population,27 are usually absent at birth and present
Figure 2. Acquired nodule on the thigh of an 8-year-old female noted at 3 years of age.
a rapid proliferative phase between 5.5 and 7.5 weeks of age, reaching their maximal size at 3 months of age in 80% of cases. They have a slow proliferative phase at 6 to 9 months of age and finally regress over years.28 In general, hemangiomas in the proliferative phase have a warm and bright red surface but later become compressible and euthermic gray to dusky red tumors. In contrast, DFSP usually has slow growth, does not spontaneously regress,
Figure 4. Acquired nodule on the leg of a 3-year-old female noted at 2 years of age.
Canadian Dermatology Association | Journal of Cutaneous Medicine and Surgery, Vol 18, No 3 (May/June), 2014: pp 180–185
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Posso-De Los Rios et al
has a firm surface, and tends to develop multinodular lesions.9 Vascular malformations are another differential diagnosis of DFSP; they are present in up to 0.5% of the population, are usually recognized at birth, grow proportionally with the patient, and are more prominent at puberty.29 If there is doubt, the absence of blood flow in radiologic images may raise suspicion of a tumor rather than a vascular malformation.10 The atrophic plaque variant seen particularly in congenital DFSP may be confused with early morphea or vascular malformations.10 Indurated sclerotic plaques of morphea, different from DFSP, develop changes on the surface, such as hypopigmentation and/or hyperpigmentation, and, finally, the skin slowly softens in 3 to 5 years.30 In some cases, skin biopsies may be required to establish a diagnosis.31 Other important differential diagnoses in pediatrics include pilomatricoma, which is characterized by a superficial mobile hard mass with bluish discoloration and an irregular surface.32 Finally, kaposiform hemangioendotheliomas are indurated, ill-defined vascular tumors with a pebbly surface that may regress spontaneously, leaving a persistent cutaneous stain.33 The treatment of choice, recommended by the NCCN, has been a wide local excision with 2 to 4 cm margins or Mohs micrographic surgery.13 Surgical excision with wide margins was the treatment of choice in our case study. Translocation between chromosomes 17 and 22 is seen in more than 90% of DFSP lesions.34 This abnormality leads to a fusion of platelet-derived growth factor b (PDGFB, 22q13.1), a transmembrane tyrosine kinase, with type 1 collagen a1 (COL1A1, 17q21
Dermatofibrosarcoma Protuberans in Pediatric Patients: A Report of 17 Cases Claudia J. Posso-De Los Rios, Irene Lara-Corrales, and Nhung Ho Background: Dermatofibrosarcoma protuberans (DFSP) is an uncommon soft tissue tumor. In children, there are acquired and congenital presentations. Due to clinical similarities with other conditions, diagnosis may be delayed. Objective: To review the clinical characteristics and treatment of DFSP in pediatric patients. Methods: A retrospective chart review was performed from January 2002 to September 2012. Inclusion criteria were patients under 18 years of age with a histopathologic diagnosis of DFSP. Data on demographics, clinical characteristics, treatments, and outcomes were collected. Results: Information was gathered from 17 patients; 9 (53%) were female. Congenital lesions were reported in 7 patients. The mean delay of diagnosis was 5.7 years; the most common anatomic location was the trunk in 8 of 17 (47%) cases. Treatment options included wide local surgery, Mohs surgery, and imatinib mesylate. Conclusion: A detailed medical history and identification of the natural course of common conditions seen in pediatric patients are important to identify less common lesions and to suspect DFSP. Contexte: Le dermatofibrosarcome (DFS) de Darier et Ferrand est une tumeur peu fre´quente des tissus mous. Il existe des formes acquises et des formes conge´nitales chez les enfants. La pose du diagnostic peut eˆtre retarde´e en raison de ressemblances cliniques avec d’autres affections. Objectif: L’e´tude visait a` passer en revue les caracte´ristiques cliniques du DFS et de son traitement chez les enfants. Me´thode: Nous avons proce´de´ a` un examen re´trospectif de dossiers me´dicaux, couvrant la pe´riode de janvier 2002 a` septembre 2012. Les crite`res de se´lection comprenaient un aˆge infe´rieur a` 18 ans et un diagnostic histopathologique de DFS. Ont e´galement e´te´ recueillies des donne´es de´mographiques ainsi que des donne´es sur les caracte´ristiques cliniques, les traitements, et les re´sultats cliniques. Re´sultats: Les renseignements recueillis provenaient de 17 patients, dont 9 (53%) e´taient de sexe fe´minin. Des le´sions conge´nitales ont e´te´ releve´es chez 7 patients. Le temps moyen e´coule´ avant la pose du diagnostic e´tait de 5.7 ans, et le sie`ge le plus fre´quent des le´sions e´tait le tronc, dans 8 cas sur 17 (47%). Les traitements comprenaient la chirurgie locale e´largie, la chirurgie de Mohs, et le traitement par le me´sylate d’imatinib. Conclusion: Une anamne`se de´taille´e et la reconnaissance de l’e´volution naturelle d’affections fre´quentes observe´es chez les enfants sont des e´le´ments importants de l’identification de le´sions moins fre´quentes et de la pre´sence pre´sume´e du DFS.
ERMATOFIBROSARCOMA PROTUBERANS (DFSP) is an uncommon low-grade malignant soft tissue tumor.1 A review of over 50,000 patients with tumoral lesions revealed an incidence of less than 0.1%,2 accounting
D
From the Section of Dermatology, The Hospital for Sick Children and University of Toronto, Toronto, ON. Address reprint requests to: Irene Lara-Corrales, MD, MSc, Section of Dermatology, The Hospital for Sick Children, 555 University Avenue, Toronto, ON M5G 1X8; e-mail: [email protected].
DOI 10.2310/7750.2013.13099 # 2014 Canadian Dermatology Association
180
for 18.4% of all cutaneous soft tissue sarcomas.3 Previous reports of DFSP in pediatric patients, including congenital lesions, seemed to indicate a lower incidence than in adults, representing 6% of all cases.4 The incidence is 1 per million in patients under 20 years of age.5 DFSP is classified as congenital and acquired types; subtypes include pigmented (Bednar tumor), atrophic, and multicentric.6 Congenital lesions tend to be more frequent in females7; they have been described as nodular plaque, solitary tumor, dyschromic patch, atrophic plaque, or sclerotic nodular plaque.8 Most acquired lesions have been described as plaques with reddish to bluish discoloration or small, nipple-like nodules; they may
Canadian Dermatology Association | Journal of Cutaneous Medicine and Surgery, Vol 18, No 3 (May/June), 2014: pp 180–185
Dermatofibrosarcoma Protuberans in Pediatric Patients
remain stationary or may grow progressively or rapidly.9 The color varies from reddish, violaceous, bluish, gray, or black to skin-colored lesions.6,9 The clinical differential diagnoses in pediatric patients included a broad number of conditions, such as hemangioma, vascular malformation, pilomatricoma, myofibromatoses, granuloma annulare, hamartoma, glioma, cephalocele, and dermoid cyst.10,11 Histologically, DFSP has been characterized as a moderately cellular neoplasm with atypical CD34-positive spindle cells arranged in a storiform configuration, and factor XIIIa is generally not expressed.12 The National Comprehensive Cancer Network (NCCN) in the United States recommends treating DFSP with wide local excision or Mohs micrographic surgery; radiotherapy or imatinib mesylate is used in cases with recurrences, unresectable tumors, or metastatic disease.13 We report the clinical characteristics and treatment of 17 pediatric patients with a diagnosis of DFSP. Recognizing the natural history of tumoral lesions in pediatric dermatology and having a high index of suspicion may facilitate an early diagnosis and prompt treatment of DFSP.
Methods A retrospective chart review was carried out at The Hospital for Sick Children (HSC) in Toronto, a tertiary pediatric health center. Inclusion criteria included pediatric patients (age , 18 years) with a histopathologic diagnosis of DFSP. A search to identify patients was conducted in the electronic health records database from January 1, 2002, to September 30, 2012. A manual chart review was performed. Data collection forms were completed for patients’ demographics, age at onset, differential diagnoses, type and location of lesions, presence of pain or trauma, treatment, outcome, and follow-up duration. Lesions described as ‘‘mass or tumoral lesions’’ were evaluated and classified using pictures and size when available. Analysis of the information was done using descriptive statistics tools (Stata 10 [StataCorp, College Station, TX] and Excel 2010 [Microsoft, Redmond, CA]). Approval from the HSC Research Ethics Board was obtained to complete this study.
Results We gathered information from 17 patients; 9 (53%) were female, and 7 (41%) cases were congenital. Five (29%) patients with a confirmed histopathologic diagnosis through excisional biopsy were referred to the HSC from specialists other than dermatologists or pediatric dermatologists.
The mean age at diagnosis was 7.9 6 4.5 years. Delay in making the diagnosis was estimated by subtracting the age at presentation from the age at diagnosis; we found a mean delay of diagnosis of 5.7 6 4.0 (range 1–12) years. Lesions were identified in the trunk in 8 of 17 (47%) patients, followed by extremities in 7 of 17 (41%) and other areas in 2 of 17 (12%) patients. Size varied from 1 to 7 cm in 14 lesions (mean 2.9 6 1.8 cm). Table 1 summarizes the patients’ characteristics. We found that 7 of 17 (41%) lesions were classified as ‘‘other descriptions’’ for terms such as ‘‘mass,’’ ‘‘tumoral lesion,’’ and ‘‘lump’’; 5 of these cases were referred to the HSC after excisional biopsies were performed, and 2 cases were treated by clinics at HSC other than the pediatric dermatology clinic. Size $ 3 cm was observed in 4 of those lesions. Pain was reported in five cases, and one patient had a positive history of trauma related to onset of the lesion (vaccination area). Three cases (18%) were referred for dermatology evaluation due to inflammatory changes secondary to trauma in a preexisting lesion. Clinical presentations are shown in Figure 1, Figure 2, Figure 3, and Figure 4. The clinical differential diagnosis included hemangioma, vascular malformation, kaposiform hemangioendothelioma, cysts, keloid, myofibroma, pilomatricoma, lipoma, fibroma, and lymphoma. DFSP with plaque or scar-like lesions were initially considered aplasia cutis, resolved morphea, resolved hemangioma, or congenital atrophoderma. Six patients (35%) had an excisional biopsy with positive margins for DFSP when the diagnosis was not suspected. Treatments included wide local excision in 15 of 17 (88%) and Mohs surgery in 1 of 17 (6%) cases; imatinib mesylate was used in 1 (6%) case. Surgery margins for excisions varied between 1 and 4 cm according to the type of lesion and anatomic distribution. Positive margins were found in 2 of 15 (13%) cases after surgery (initial margins of 1 cm for one case and not specified for the other). Both patients underwent a surgical reintervention, achieving negative margins. The patient treated initially with imatinib mesylate required surgery 11 months later, once the reduction in lesion size was obtained successfully, achieving negative margins. Fifteen patients (88%) continued to be followed at the HSC, and the mean follow-up was of 3.0 6 3.5 years (range 1 month to 8 years). There was no history of recurrences or metastasis.
Discussion DFSP is more common between the second and fifth decades of life.2,14,15 In a report of 115 patients including
Canadian Dermatology Association | Journal of Cutaneous Medicine and Surgery, Vol 18, No 3 (May/June), 2014: pp 180–185
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Posso-De Los Rios et al
Table 1. Characteristics of Pediatric Patients with Dermatofibrosarcoma Protuberans Characteristic Sex (%) Female Male Mean age at onset (yr) Mean age at diagnosis (yr) Mean delay of diagnosis (yr) Mean size (cm) (n 5 14) Anatomic distribution (%) Trunk Back Abdomen Chest Extremities Lower extremities Upper extremities Other Genital area Scalp Type of lesions Other descriptions* Nodule Atrophic plaque Nodular plaque
Total
Congenital (n 5 7)
Acquired (n 5 10)
9 (53) 8 (47) 2.6 6 4.1 7.9 6 4.5 5.7 6 4 2.9 6 1.8
4 3 At birth 6.1 6 3.1 6.1 6 3.1 3 6 1.4
5 5 6 6 6 6
8 (47) 4 3 1 7 (41) 6 1 2 (12) 1 1 7 6 2 2
(41) (35) (12) (12)
4.7 9.1 5.3 2.9
2 1 1
2 2 —
2 —
4 1
— 1
1 —
4 2 1 2
3 4 1 —
4.6 5.1 4.7 2.1
*Include terms such as ‘‘mass,’’ ‘‘tumoral lesion,’’ and ‘‘lump.’’
adults and children, DFSP lesions were noted during the first decade of life in 10 of 115 (9%) cases and before 20 years of age in 24 of 115 (21%) cases.9 We report 17 pediatric cases over a 10-year period, including 7 cases with a congenital presentation. There were two similar series from France and the United States, each reporting 15 pediatric acquired cases (including 2 patients at 18 years of age) over a period of evaluation of 13 and 30 years, respectively.16,17 An additional publication included a group of 28 pediatric patients with DFSP, giant cell fibroblastoma, and hybrid lesions from six institutions and personal consultations over 12 years.18 We found a slight female predominance, as previously noted in pediatric series1,8,11,17,19; however, this observation may be due to small sample sizes of pediatric case reports. Other studies have reported a male predominance in studies including children and adult populations.2,7,9,14,20 A recent epidemiologic report noted that gender variability in adults has been observed in different studies.21 There is a lack of studies evaluating susceptibility factors associated with gender in this condition. The most common location of DFSP lesions in our cases was the trunk followed by the extremities, as previously 182
reported in pediatric series1,11,16,17,22; however, it is important to mention that any anatomic distribution is possible.9 Congenital DFSP is frequently found in the trunk and upper extremities; however, there are reports of variable anatomic distribution.10,19 The clinically predominant presentation of lesions in our cases described as tumors or nodules in both groups may be compatible with longstanding lesions and delay of diagnosis, suggesting that tumoral lesions were in the protuberant stage of growth.23 The mean age at diagnosis for cases with acquired lesions was lower than previously reported in other similar series (11.9–13 years).16,17 Delay of diagnosis was similar to that reported by other authors, which varied from months to 16 years.9,11,19,24 An indolent course and painful lesions were reported in case series.2,9,25 In our study, painful lesions were noted in almost one-third of cases. Trauma has been a controversial factor associated with onset of lesions.2 One of our patients developed a lesion within the site of a previous vaccination; this association has been noted in previous reports.1,18 Interestingly, local trauma favored a dermatologic evaluation in 3 (18%) of our 17 cases. We consider the trauma in these cases to be an event that attracted attention on a previously existing
Canadian Dermatology Association | Journal of Cutaneous Medicine and Surgery, Vol 18, No 3 (May/June), 2014: pp 180–185
Dermatofibrosarcoma Protuberans in Pediatric Patients
Figure 3. Congenital nodular plaque on the scalp of a 2-year-old boy.
Figure 1. Congenital nodule on the back of a 6-year-old female.
lesion favoring the theory of trauma as a coincidental finding.2 Clinical suspicion is important to address appropriate diagnostic investigations in DFSP; histopathology may also be challenging, particularly if small biopsies are evaluated.19,26 More than 10 differential diagnoses were considered in our cases, including hemangiomas, vascular malformations, and benign tumoral lesions more frequently seen in pediatric patients, which might be misleading and delay intervention. A detailed medical history and meticulous description of lesion changes are useful to identify the natural history of lesions seen in pediatric patients. This information may be more important than gender and anatomic distribution when DFSP is suspected. For instance, infantile hemangiomas, the most common tumor in infancy, occurring in 4 to 5% of the population,27 are usually absent at birth and present
Figure 2. Acquired nodule on the thigh of an 8-year-old female noted at 3 years of age.
a rapid proliferative phase between 5.5 and 7.5 weeks of age, reaching their maximal size at 3 months of age in 80% of cases. They have a slow proliferative phase at 6 to 9 months of age and finally regress over years.28 In general, hemangiomas in the proliferative phase have a warm and bright red surface but later become compressible and euthermic gray to dusky red tumors. In contrast, DFSP usually has slow growth, does not spontaneously regress,
Figure 4. Acquired nodule on the leg of a 3-year-old female noted at 2 years of age.
Canadian Dermatology Association | Journal of Cutaneous Medicine and Surgery, Vol 18, No 3 (May/June), 2014: pp 180–185
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Posso-De Los Rios et al
has a firm surface, and tends to develop multinodular lesions.9 Vascular malformations are another differential diagnosis of DFSP; they are present in up to 0.5% of the population, are usually recognized at birth, grow proportionally with the patient, and are more prominent at puberty.29 If there is doubt, the absence of blood flow in radiologic images may raise suspicion of a tumor rather than a vascular malformation.10 The atrophic plaque variant seen particularly in congenital DFSP may be confused with early morphea or vascular malformations.10 Indurated sclerotic plaques of morphea, different from DFSP, develop changes on the surface, such as hypopigmentation and/or hyperpigmentation, and, finally, the skin slowly softens in 3 to 5 years.30 In some cases, skin biopsies may be required to establish a diagnosis.31 Other important differential diagnoses in pediatrics include pilomatricoma, which is characterized by a superficial mobile hard mass with bluish discoloration and an irregular surface.32 Finally, kaposiform hemangioendotheliomas are indurated, ill-defined vascular tumors with a pebbly surface that may regress spontaneously, leaving a persistent cutaneous stain.33 The treatment of choice, recommended by the NCCN, has been a wide local excision with 2 to 4 cm margins or Mohs micrographic surgery.13 Surgical excision with wide margins was the treatment of choice in our case study. Translocation between chromosomes 17 and 22 is seen in more than 90% of DFSP lesions.34 This abnormality leads to a fusion of platelet-derived growth factor b (PDGFB, 22q13.1), a transmembrane tyrosine kinase, with type 1 collagen a1 (COL1A1, 17q21
![[Dermatofibrosarcoma protuberans: report of 38 cases].](/assets/img/hold.png)
