Kostrzewa E, Beylot-Barry M, Vergier B, Pedeutour F, Beylot C
Service de Dermatologie, Hôpital Haut Lévêque, CHU de Bordeaux.
Ann Dermatol Venereol. 2006 Apr;133(4):359-61. doi: 10.1016/s0151-9638(06)70915-2.
Atrophic dermatofibrosarcoma is a rare clinical variant of dermatofibrosarcoma protuberans (or Darier-Ferrand tumor) preferentially observed in childhood and early adulthood.
We report a case of multifocal atrophic dermatofibrosarcoma protuberans of childhood onset only diagnosed when the patient was 29 years old. The clinical presentation was an asymptomatic macular brown plaque on the right thigh measuring 10 cm. Initially, because of the large size of the lesion, treatment consisted of limited surgical excision.
Diagnosis of the atrophic variant of dermatofibrosarcoma in childhood is difficult, and is usually made several years later in early adulthood because of its slow development, lack of symptoms and generally benign appearance. Histological tests and immunohistochemical staining may confirm clinically suspected diagnosis, and in complex cases, cytogenetic studies can help confirm a diagnosis of dermatofibrosarcoma through detection of reciprocal translocation t (17,22), which fuses collagen type Ialpha1 (COLIA1) and platelet-derived growth factor (PDGDFbeta), and which is highly characteristic of dermatofibrosarcoma protuberans. Conventional treatment of dermatofibrosarcoma protuberans consists of extensive surgical excision, but Mohs micrographic surgery is also advocated for removal of certain dermatofibrosarcoma protuberans, while use of tyrosine kinase PDGF receptor inhibitors such as imatinib mesylate (Glivec) is limited to distant metastases.
萎缩性皮肤纤维肉瘤是隆突性皮肤纤维肉瘤（或达里埃 - 费朗德瘤）的一种罕见临床变异型，多见于儿童期和成年早期。
我们报告一例儿童期起病的多灶性萎缩性隆突性皮肤纤维肉瘤病例，患者29岁时才得以确诊。临床表现为右大腿一处无症状的褐色斑疹，大小为10厘米。起初，由于病变范围较大，治疗采用了有限的手术切除。
儿童期萎缩性皮肤纤维肉瘤变异型的诊断较为困难，因其发展缓慢、无症状且外观通常呈良性，所以往往在成年早期才得以确诊。组织学检查和免疫组化染色可证实临床疑似诊断，在复杂病例中，细胞遗传学研究可通过检测相互易位t(17,22)来帮助确诊皮肤纤维肉瘤，该易位融合了Iα1型胶原蛋白（COLIA1）和血小板衍生生长因子（PDGDFβ），这是隆突性皮肤纤维肉瘤的高度特征性表现。隆突性皮肤纤维肉瘤的传统治疗方法是广泛手术切除，但也提倡采用莫氏显微外科手术切除某些隆突性皮肤纤维肉瘤，而使用酪氨酸激酶PDGF受体抑制剂，如甲磺酸伊马替尼（格列卫）仅限于远处转移的情况。
