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1</a>A&#41; and others that were indurated to the touch&#44; nonmobile&#44; and the color of normal skin&#44; suggesting a bone origin &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>B&#41;&#46; Marked scoliosis&#44; dysmetria&#44; and shortening and varus deformity of the right extremities were also present&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Histopathology</span><p id="par0015" class="elsevierStylePara elsevierViewall">Biopsy of a lesion with a vascular appearance revealed a well-defined nodule in the dermis composed of dilated vascular channels delimited by a thin endothelium&#46; Also present were more solid areas composed of fascicles of spindle cells &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>A&#41;&#44; interspersed with a few round cells with vacuolated cytoplasm &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>B&#41;&#46;</p><elsevierMultimedia ident="fig0010"></elsevierMultimedia></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0020">Additional Tests</span><p id="par0020" class="elsevierStylePara elsevierViewall">Radiography &#40;<a class="elsevierStyleCrossRef" href="#fig0015">Fig&#46; 3</a>A&#41; and magnetic resonance imaging revealed multiple irregular thin-walled images in the phalanges and metacarpals&#46; Bone scintigraphy with technetium-99m hydroxy diphosphonate &#40;<span class="elsevierStyleSup">99m</span>Tc-HDP&#41; revealed multiple foci of increased uptake of the radiotracer&#44; predominantly in the long bones of the right side of the body &#40;<a class="elsevierStyleCrossRef" href="#fig0015">Fig&#46; 3</a>B&#41;&#46;</p><elsevierMultimedia ident="fig0015"></elsevierMultimedia><p id="par0025" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleBold">What Is Your Diagnosis&#63;</span></p></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Diagnosis</span><p id="par0030" class="elsevierStylePara elsevierViewall">Maffucci syndrome&#46;</p></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Clinical Course and Treatment</span><p id="par0035" class="elsevierStylePara elsevierViewall">After 2 years of periodic follow-up visits the patient has not developed any malignancies&#46;</p></span><span id="sec0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Comment</span><p id="par0040" class="elsevierStylePara elsevierViewall">Maffucci syndrome is a rare disorder&#46; Only about 200 cases have been reported since it was first described in 1881&#46; The syndrome is caused by a congenital&#44; nonhereditary mesodermal dysplasia and is characterized by the triad of enchondromas&#44; multiple vascular lesions&#44; and musculoskeletal anomalies&#46;<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">1&#8211;6</span></a> The etiology is unknown&#44; although recent articles suggest that it could be caused by a postzygotic somatic mutation in the enzymes isocitrate dehydrogenase 1 and 2&#46;<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">2</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">Patients tend to be asymptomatic at birth and develop lesions in childhood or adolescence&#46; The lesions are distributed asymmetrically&#44; predominantly on one side of the body and on distal parts of the extremities&#46;<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">1&#8211;3</span></a></p><p id="par0050" class="elsevierStylePara elsevierViewall">Enchondromas are benign cartilaginous tumors clinically characterized as subcutaneous nodules the color of normal skin and with the consistency of bone&#46; Although enchondromas are benign lesions&#44; they can present complications such as deformities or fractures&#46; The most important complication is the possibility of malignant transformation to chondrosarcoma&#44; which occurs in up to 40&#37; of cases&#46; Radiologic studies show irregular images with thin walls that are insufflated but not destroyed and bone scintigraphy shows areas of increased uptake&#46; In most cases&#44; treatment is not necessary except in the event of complications&#44; in which case surgery is the therapeutic option of choice&#46;<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">1&#8211;6</span></a></p><p id="par0055" class="elsevierStylePara elsevierViewall">The vascular lesions present clinically as soft bluish or violaceous subcutaneous nodules&#46; There are 3 types&#58; venous malformations&#44; lymphatic malformations&#44; and spindle cell hemangioma&#44; the last being the most characteristic type&#46;<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">1&#8211;6</span></a> Spindle cell hemangioma is a benign vascular proliferation that is histologically composed of 3 components&#58; dilated vascular channels&#44; fascicles of spindle cells&#44; and round cells with vacuolated cytoplasm&#46;<a class="elsevierStyleCrossRefs" href="#bib0045"><span class="elsevierStyleSup">3&#44;4</span></a> The risk of malignant transformation of the vascular lesions is not established&#44; although it appears to be rare&#46; In fact&#44; only 7 cases of malignant transformation have been reported&#44; specifically 6 angiosarcomas and 1 lymphangiosarcoma&#44; although some of these cases developed at sites exposed to radiotherapy&#44; so the role of radiotherapy in their development is not known&#46;<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">4</span></a> Treatment is only required in selected cases and&#44; although surgery is the therapeutic option of choice&#44; recurrences are frequent&#46; In recent years&#44; there have been reports of cases treated with rapamycin&#44; with variable results&#46;<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">5</span></a></p><p id="par0060" class="elsevierStylePara elsevierViewall">In addition to the risk of malignant transformation of the enchondromas and vascular lesions&#44; Maffucci syndrome can also be associated with other malignancies such as astrocytomas or pituitary adenomas&#46;<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">6</span></a></p><p id="par0065" class="elsevierStylePara elsevierViewall">Therefore&#44; although there are no established follow-up protocols&#44; close monitoring of these patients is essential for early detection of possible neoplasms&#46;</p></span><span id="sec0040" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Conflicts of Interest</span><p id="par0070" class="elsevierStylePara elsevierViewall">The authors declare that they have no conflicts of interest&#46;</p></span></span>"
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Case for Diagnosis
Nodules on the Hands and Musculoskeletal Abnormalities
Nódulos en las manos y anomalías músculo-esqueléticas
C. Sanchis-Sáncheza,
Autor para correspondencia
celia_sanchis@hotmail.com

Corresponding author.
, A. Mateu-Puchadesa, F. García-Herrerosb
a Servicio de Dermatología, Hospital Universitario Doctor Peset, Valencia, Spain
b Servicio de Anatomía Patológica, Hospital Universitario Doctor Peset, Valencia, Spain
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    "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Medical History</span><p id="par0005" class="elsevierStylePara elsevierViewall">A 28-year-old man with no family history of interest presented with asymptomatic nodules on the hands that had first appeared during adolescence&#46; The patient had a history of panhypopituitarism secondary to the excision of a cerebral enchondroma and had undergone surgery to lengthen the right femur and tibia&#46;</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Physical Examination</span><p id="par0010" class="elsevierStylePara elsevierViewall">Physical examination revealed 2 types of subcutaneous nodules&#58; some that were soft&#44; mobile&#44; and violaceous&#44; with a vascular appearance &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>A&#41; and others that were indurated to the touch&#44; nonmobile&#44; and the color of normal skin&#44; suggesting a bone origin &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>B&#41;&#46; Marked scoliosis&#44; dysmetria&#44; and shortening and varus deformity of the right extremities were also present&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Histopathology</span><p id="par0015" class="elsevierStylePara elsevierViewall">Biopsy of a lesion with a vascular appearance revealed a well-defined nodule in the dermis composed of dilated vascular channels delimited by a thin endothelium&#46; Also present were more solid areas composed of fascicles of spindle cells &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>A&#41;&#44; interspersed with a few round cells with vacuolated cytoplasm &#40;<a class="elsevierStyleCrossRef" href="#fig0010">Fig&#46; 2</a>B&#41;&#46;</p><elsevierMultimedia ident="fig0010"></elsevierMultimedia></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0020">Additional Tests</span><p id="par0020" class="elsevierStylePara elsevierViewall">Radiography &#40;<a class="elsevierStyleCrossRef" href="#fig0015">Fig&#46; 3</a>A&#41; and magnetic resonance imaging revealed multiple irregular thin-walled images in the phalanges and metacarpals&#46; Bone scintigraphy with technetium-99m hydroxy diphosphonate &#40;<span class="elsevierStyleSup">99m</span>Tc-HDP&#41; revealed multiple foci of increased uptake of the radiotracer&#44; predominantly in the long bones of the right side of the body &#40;<a class="elsevierStyleCrossRef" href="#fig0015">Fig&#46; 3</a>B&#41;&#46;</p><elsevierMultimedia ident="fig0015"></elsevierMultimedia><p id="par0025" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleBold">What Is Your Diagnosis&#63;</span></p></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Diagnosis</span><p id="par0030" class="elsevierStylePara elsevierViewall">Maffucci syndrome&#46;</p></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Clinical Course and Treatment</span><p id="par0035" class="elsevierStylePara elsevierViewall">After 2 years of periodic follow-up visits the patient has not developed any malignancies&#46;</p></span><span id="sec0035" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Comment</span><p id="par0040" class="elsevierStylePara elsevierViewall">Maffucci syndrome is a rare disorder&#46; Only about 200 cases have been reported since it was first described in 1881&#46; The syndrome is caused by a congenital&#44; nonhereditary mesodermal dysplasia and is characterized by the triad of enchondromas&#44; multiple vascular lesions&#44; and musculoskeletal anomalies&#46;<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">1&#8211;6</span></a> The etiology is unknown&#44; although recent articles suggest that it could be caused by a postzygotic somatic mutation in the enzymes isocitrate dehydrogenase 1 and 2&#46;<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">2</span></a></p><p id="par0045" class="elsevierStylePara elsevierViewall">Patients tend to be asymptomatic at birth and develop lesions in childhood or adolescence&#46; The lesions are distributed asymmetrically&#44; predominantly on one side of the body and on distal parts of the extremities&#46;<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">1&#8211;3</span></a></p><p id="par0050" class="elsevierStylePara elsevierViewall">Enchondromas are benign cartilaginous tumors clinically characterized as subcutaneous nodules the color of normal skin and with the consistency of bone&#46; Although enchondromas are benign lesions&#44; they can present complications such as deformities or fractures&#46; The most important complication is the possibility of malignant transformation to chondrosarcoma&#44; which occurs in up to 40&#37; of cases&#46; Radiologic studies show irregular images with thin walls that are insufflated but not destroyed and bone scintigraphy shows areas of increased uptake&#46; In most cases&#44; treatment is not necessary except in the event of complications&#44; in which case surgery is the therapeutic option of choice&#46;<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">1&#8211;6</span></a></p><p id="par0055" class="elsevierStylePara elsevierViewall">The vascular lesions present clinically as soft bluish or violaceous subcutaneous nodules&#46; There are 3 types&#58; venous malformations&#44; lymphatic malformations&#44; and spindle cell hemangioma&#44; the last being the most characteristic type&#46;<a class="elsevierStyleCrossRefs" href="#bib0035"><span class="elsevierStyleSup">1&#8211;6</span></a> Spindle cell hemangioma is a benign vascular proliferation that is histologically composed of 3 components&#58; dilated vascular channels&#44; fascicles of spindle cells&#44; and round cells with vacuolated cytoplasm&#46;<a class="elsevierStyleCrossRefs" href="#bib0045"><span class="elsevierStyleSup">3&#44;4</span></a> The risk of malignant transformation of the vascular lesions is not established&#44; although it appears to be rare&#46; In fact&#44; only 7 cases of malignant transformation have been reported&#44; specifically 6 angiosarcomas and 1 lymphangiosarcoma&#44; although some of these cases developed at sites exposed to radiotherapy&#44; so the role of radiotherapy in their development is not known&#46;<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">4</span></a> Treatment is only required in selected cases and&#44; although surgery is the therapeutic option of choice&#44; recurrences are frequent&#46; In recent years&#44; there have been reports of cases treated with rapamycin&#44; with variable results&#46;<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">5</span></a></p><p id="par0060" class="elsevierStylePara elsevierViewall">In addition to the risk of malignant transformation of the enchondromas and vascular lesions&#44; Maffucci syndrome can also be associated with other malignancies such as astrocytomas or pituitary adenomas&#46;<a class="elsevierStyleCrossRef" href="#bib0060"><span class="elsevierStyleSup">6</span></a></p><p id="par0065" class="elsevierStylePara elsevierViewall">Therefore&#44; although there are no established follow-up protocols&#44; close monitoring of these patients is essential for early detection of possible neoplasms&#46;</p></span><span id="sec0040" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Conflicts of Interest</span><p id="par0070" class="elsevierStylePara elsevierViewall">The authors declare that they have no conflicts of interest&#46;</p></span></span>"
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2024 Abril 84 19 103
2024 Marzo 77 32 109
2024 Febrero 74 29 103
2024 Enero 64 29 93
2023 Diciembre 63 17 80
2023 Noviembre 71 18 89
2023 Octubre 104 20 124
2023 Septiembre 67 30 97
2023 Agosto 41 24 65
2023 Julio 74 23 97
2023 Junio 59 21 80
2023 Mayo 65 18 83
2023 Abril 55 16 71
2023 Marzo 54 30 84
2023 Febrero 68 15 83
2023 Enero 38 24 62
2022 Diciembre 52 29 81
2022 Noviembre 29 29 58
2022 Octubre 29 15 44
2022 Septiembre 47 30 77
2022 Agosto 29 33 62
2022 Julio 40 42 82
2022 Junio 35 18 53
2022 Mayo 55 33 88
2022 Abril 58 28 86
2022 Marzo 57 55 112
2022 Febrero 41 33 74
2022 Enero 40 29 69
2021 Diciembre 39 35 74
2021 Noviembre 43 40 83
2021 Octubre 41 53 94
2021 Septiembre 31 33 64
2021 Agosto 33 34 67
2021 Julio 30 19 49
2021 Junio 26 20 46
2021 Mayo 37 45 82
2021 Abril 47 60 107
2021 Marzo 57 25 82
2021 Febrero 47 24 71
2021 Enero 23 20 43
2020 Diciembre 39 16 55
2020 Noviembre 32 18 50
2020 Octubre 28 16 44
2020 Septiembre 31 18 49
2020 Agosto 29 15 44
2020 Julio 26 17 43
2020 Junio 27 22 49
2020 Mayo 23 14 37
2020 Abril 23 19 42
2020 Marzo 20 11 31
2020 Febrero 5 0 5
2020 Enero 4 0 4
2019 Diciembre 4 0 4
2019 Noviembre 4 0 4
2019 Septiembre 4 0 4
2019 Agosto 4 0 4
2019 Julio 4 0 4
2019 Junio 4 0 4
2019 Mayo 4 0 4
2019 Abril 2 0 2
2019 Marzo 2 0 2
2019 Febrero 1 0 1
2019 Enero 1 0 1
2018 Diciembre 4 0 4
2018 Noviembre 1 0 1
2018 Octubre 7 0 7
2018 Septiembre 8 0 8
2018 Febrero 21 4 25
2018 Enero 30 5 35
2017 Diciembre 37 10 47
2017 Noviembre 62 35 97
2017 Octubre 3 6 9
2017 Septiembre 4 6 10
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