title: Congenital atrophic dermatofibrosarcoma protuberans detected by COL1A1-PDGFB rearrangement.
abstract: BACKGROUND
  Atrophic variant of dermatofibrosarcoma protuberans (DFSP) is a distinct form of DFSP.
  
  
  METHODS
  Here, we report the case of a 19-year-old woman with a small congenital atrophic plaque on the right precordium. The lesion remained atrophic for more than 10 years. Several years earlier, a portion of the plaque became tuberous and enlarged. Physical examination revealed a 25 × 30 mm erythematous atrophic plaque surrounded by three hard, smooth, and orange-colored nodules of varying sizes on the right precordium, along with visible subcutaneous adipose tissue and cutaneous veins. Biopsy of the nodule and atrophic plaque revealed dense proliferation of spindle-shaped tumor cells from the dermis to the subcutaneous adipose tissue, and positive immunostaining for CD34 and vimentin in addition to negative staining for factor XIIIa and α-smooth muscle actin. Reverse transcription polymerase chain reaction (RT-PCR) of the tumor tissue revealed the presence of a COL1A1-PDGFB fusion gene. Thus, congenital atrophic dermatofibrosarcoma protuberans was diagnosed. No metastasis to the lungs or regional lymph nodes was found on magnetic resonance imaging. Wide local excision and split-thickness skin grafting was performed and neither recurrence nor metastasis has been observed for 5 years and 8 months since the surgery.
  
  
  CONCLUSIONS
  This case indicates that a congenital atrophic lesion could represent a quiescent phase of DFSP. Awareness of this rare condition can aid with early diagnosis and thereby improve the prognosis of DFSP.
authors.affiliation: Department of Dermatology, Kawasaki Medical School, 577 Matsushima, Kurashiki-shi, Okayama-ken, 701-0192, Japan. roseatelylife@hotmail.co.jp.
authors.forename: Maki
authors.initials: M
authors.lastname: Makino
authors.affiliation: Department of Dermatology, Kawasaki Medical School, 577 Matsushima, Kurashiki-shi, Okayama-ken, 701-0192, Japan. s_sasaoka@mch.or.jp.
authors.forename: Shunsuke
authors.initials: S
authors.lastname: Sasaoka
authors.affiliation: Department of Dermatology, Shiga University of Medical Science, Seta Tsukinowa-cho, Otsu-shi, Shiga-ken, 520-2192, Japan. genn@belle.shiga-med.ac.jp.
authors.forename: Gen
authors.initials: G
authors.lastname: Nakanishi
authors.affiliation: Department of Dermatology, Kawasaki Medical School, 577 Matsushima, Kurashiki-shi, Okayama-ken, 701-0192, Japan. e.makino@med.kawasaki-m.ac.jp.|Department of Dermatology, Kawasaki Hospital, Kawasaki Medical School, 2-1-80 Nakasange, Kita-ku, Okayama-shi, Okayama-ken, Okayama, 700-8505, Japan. e.makino@med.kawasaki-m.ac.jp.
authors.forename: Eiichi
authors.initials: E
authors.lastname: Makino
authors.affiliation: Department of Dermatology, Kawasaki Medical School, 577 Matsushima, Kurashiki-shi, Okayama-ken, 701-0192, Japan. watarufu@med.kawasaki-m.ac.jp.
authors.forename: Wataru
authors.initials: W
authors.lastname: Fujimoto
mesh_terms: D001284:Atrophy; D014408:Biomarkers, Tumor / Q000032:analysis / Q000235:genetics*; D001706:Biopsy; D024042:Collagen Type I / Q000235:genetics*; D000090602:Collagen Type I, alpha 1 Chain; D018223:Dermatofibrosarcoma / Q000737:chemistry / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D005260:Female; D015321:Gene Rearrangement; D020022:Genetic Predisposition to Disease; D006801:Humans; D007150:Immunohistochemistry; D010641:Phenotype; D011237:Predictive Value of Tests; D020574:Proto-Oncogene Proteins c-sis / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012878:Skin Neoplasms / Q000737:chemistry / Q000235:genetics* / Q000473:pathology / Q000601:surgery; D016038:Skin Transplantation; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D014408:Biomarkers, Tumor; D024042:Collagen Type I; D000090602:Collagen Type I, alpha 1 Chain; D020574:Proto-Oncogene Proteins c-sis