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• W2120788997 abstract "To the Editor: Cutis marmorata telangiectatica congenita (CMTC) is a congenital cutaneous vascular malformation characterized by persistent cutis marmorata, telangiectasia, ulceration, and atrophy. The distribution of CMTC is often segmental and has been attributed to mosaicism of a postzygotic mutation.1Danarti R. Happle R. Konig A. Paradominant inheritance may explain familial occurrence of cutis marmorata telangiectatica congenita.Dermatology. 2001; 203: 208-211Crossref PubMed Scopus (25) Google Scholar Although a benign and often self-limited condition, CMTC is reported in association with congenital anomalies, typically hypoplasia or hyperplasia of the area involved, in approximately 50% of cases.2Del Giudice S.M. Nydorf E.D. Cutis marmorata telangiectatica congenita with multiple congenital anomalies.Arch Dermatol. 1986; 122: 1060-1061Crossref PubMed Google Scholar Our patient was born with a classic presentation of CMTC in conjunction with both an imperforate anus and vertebral anomalies, including tethered cord.A Hispanic girl was born at term by spontaneous vaginal delivery after an uncomplicated pregnancy. At birth, she was noted to have a vascular birthmark and an imperforate anus.Dermatology was consulted to evaluate the birthmark. Findings of a physical examination revealed slightly atrophic, reticulate, blanching violaceous plaques on the midline back, both buttocks and legs, with a left leg predominance (Fig 1). An erosion was present within a violaceous patch on the left ankle (Fig 1, A). The findings were clinically consistent with CMTC. The lower extremities were grossly of equal length and girth. An imperforate anus and fecal discharge from the urethra were also evident on examination (Fig 2).Fig 2Imperforate anus with rectovesicular fistula.View Large Image Figure ViewerDownload (PPT)Because of the presence of imperforate anus and the midline location of CMTC lesions, imaging of the spine and pelvis was performed. Computed tomography and magnetic resonance imaging revealed spinal anomalies including a hypoplastic S4 vertebral body, absent coccyx, tethered cord terminating in an intrathecal lipoma, and a rectovesicular fistula; the lumbar spine was spared. Subsequent surgical repair of the imperforate anus and rectovesicular fistula was performed.To our knowledge, there have been two previous reports of CMTC in association with imperforate anus.2Del Giudice S.M. Nydorf E.D. Cutis marmorata telangiectatica congenita with multiple congenital anomalies.Arch Dermatol. 1986; 122: 1060-1061Crossref PubMed Google Scholar, 3Gerritsen M.J.P. Steijlen P.M. Brunner H.G. Rieu P. Cutis marmorata telangiectatica congenita: report of 18 cases.Br J Dermatol. 2000; 142: 366-369Crossref PubMed Scopus (55) Google Scholar Because CMTC can be difficult to differentiate from hemangiomas or port-wine stains, the case histories and photographs were reviewed closely. Photographs of the case described by Del Giudice and Nydorf2Del Giudice S.M. Nydorf E.D. Cutis marmorata telangiectatica congenita with multiple congenital anomalies.Arch Dermatol. 1986; 122: 1060-1061Crossref PubMed Google Scholar suggest that the reported cutis marmorata may in fact have been a hemangioma. A review of CMTC-associated anomalies by Gerritsen et al3Gerritsen M.J.P. Steijlen P.M. Brunner H.G. Rieu P. Cutis marmorata telangiectatica congenita: report of 18 cases.Br J Dermatol. 2000; 142: 366-369Crossref PubMed Scopus (55) Google Scholar included a case of anal atresia, but clinical descriptions or photographs were not included. On the basis of these reports, we conclude that the coexistence of imperforate anus with CMTC is a rare associated anomaly.Our patient's spinal anomalies are possibly novel to a presentation of CMTC. A variety of bony defects, including bone demineralization, spina bifida, and scoliosis, have been described in association with CMTC, but, to our knowledge, spinal anomalies unrelated to spina bifida or scoliosis, as in our case, have not been previously reported.4Powell S.T. Su W.P. Cutis marmorata telangiectatica congenita: report of nine cases and review of the literature.Cutis. 1984; 34: 305-312PubMed Google Scholar, 5Way B.H. Herrmann J. Gilbert E.F. Johnson S.A. Opitz J.M. Cutis marmorata telangiectatica congenita.J Cutan Pathol. 1974; 1: 10-25Crossref PubMed Scopus (83) Google Scholar, 6Verdyck P. Holder-Espinasse M. Hul W.V. Wuyts W. Clinical and molecular analysis of nine families with Adams-Oliver syndrome.Eur J Hum Genet. 2003; 11: 457-463Crossref PubMed Scopus (34) Google Scholar, 7Lee S. Lee J.B. Kim J.H. Kim K.Y. Lee S.H. Cutis marmorata telangiectatica with multiple congenital anomalies (Van Lohuizen's syndrome).Dermatologica. 1981; 163: 408-412Crossref PubMed Scopus (28) Google ScholarAs our case demonstrates, the clinically apparent condition of CMTC may serve as a marker for more covert anomalies. It is therefore important to consider the possibility of associated anomalies, especially underlying the lesion, in patients with CMTC and to evaluate these patients appropriately. To the Editor: Cutis marmorata telangiectatica congenita (CMTC) is a congenital cutaneous vascular malformation characterized by persistent cutis marmorata, telangiectasia, ulceration, and atrophy. The distribution of CMTC is often segmental and has been attributed to mosaicism of a postzygotic mutation.1Danarti R. Happle R. Konig A. Paradominant inheritance may explain familial occurrence of cutis marmorata telangiectatica congenita.Dermatology. 2001; 203: 208-211Crossref PubMed Scopus (25) Google Scholar Although a benign and often self-limited condition, CMTC is reported in association with congenital anomalies, typically hypoplasia or hyperplasia of the area involved, in approximately 50% of cases.2Del Giudice S.M. Nydorf E.D. Cutis marmorata telangiectatica congenita with multiple congenital anomalies.Arch Dermatol. 1986; 122: 1060-1061Crossref PubMed Google Scholar Our patient was born with a classic presentation of CMTC in conjunction with both an imperforate anus and vertebral anomalies, including tethered cord. A Hispanic girl was born at term by spontaneous vaginal delivery after an uncomplicated pregnancy. At birth, she was noted to have a vascular birthmark and an imperforate anus. Dermatology was consulted to evaluate the birthmark. Findings of a physical examination revealed slightly atrophic, reticulate, blanching violaceous plaques on the midline back, both buttocks and legs, with a left leg predominance (Fig 1). An erosion was present within a violaceous patch on the left ankle (Fig 1, A). The findings were clinically consistent with CMTC. The lower extremities were grossly of equal length and girth. An imperforate anus and fecal discharge from the urethra were also evident on examination (Fig 2). Because of the presence of imperforate anus and the midline location of CMTC lesions, imaging of the spine and pelvis was performed. Computed tomography and magnetic resonance imaging revealed spinal anomalies including a hypoplastic S4 vertebral body, absent coccyx, tethered cord terminating in an intrathecal lipoma, and a rectovesicular fistula; the lumbar spine was spared. Subsequent surgical repair of the imperforate anus and rectovesicular fistula was performed. To our knowledge, there have been two previous reports of CMTC in association with imperforate anus.2Del Giudice S.M. Nydorf E.D. Cutis marmorata telangiectatica congenita with multiple congenital anomalies.Arch Dermatol. 1986; 122: 1060-1061Crossref PubMed Google Scholar, 3Gerritsen M.J.P. Steijlen P.M. Brunner H.G. Rieu P. Cutis marmorata telangiectatica congenita: report of 18 cases.Br J Dermatol. 2000; 142: 366-369Crossref PubMed Scopus (55) Google Scholar Because CMTC can be difficult to differentiate from hemangiomas or port-wine stains, the case histories and photographs were reviewed closely. Photographs of the case described by Del Giudice and Nydorf2Del Giudice S.M. Nydorf E.D. Cutis marmorata telangiectatica congenita with multiple congenital anomalies.Arch Dermatol. 1986; 122: 1060-1061Crossref PubMed Google Scholar suggest that the reported cutis marmorata may in fact have been a hemangioma. A review of CMTC-associated anomalies by Gerritsen et al3Gerritsen M.J.P. Steijlen P.M. Brunner H.G. Rieu P. Cutis marmorata telangiectatica congenita: report of 18 cases.Br J Dermatol. 2000; 142: 366-369Crossref PubMed Scopus (55) Google Scholar included a case of anal atresia, but clinical descriptions or photographs were not included. On the basis of these reports, we conclude that the coexistence of imperforate anus with CMTC is a rare associated anomaly. Our patient's spinal anomalies are possibly novel to a presentation of CMTC. A variety of bony defects, including bone demineralization, spina bifida, and scoliosis, have been described in association with CMTC, but, to our knowledge, spinal anomalies unrelated to spina bifida or scoliosis, as in our case, have not been previously reported.4Powell S.T. Su W.P. Cutis marmorata telangiectatica congenita: report of nine cases and review of the literature.Cutis. 1984; 34: 305-312PubMed Google Scholar, 5Way B.H. Herrmann J. Gilbert E.F. Johnson S.A. Opitz J.M. Cutis marmorata telangiectatica congenita.J Cutan Pathol. 1974; 1: 10-25Crossref PubMed Scopus (83) Google Scholar, 6Verdyck P. Holder-Espinasse M. Hul W.V. Wuyts W. Clinical and molecular analysis of nine families with Adams-Oliver syndrome.Eur J Hum Genet. 2003; 11: 457-463Crossref PubMed Scopus (34) Google Scholar, 7Lee S. Lee J.B. Kim J.H. Kim K.Y. Lee S.H. Cutis marmorata telangiectatica with multiple congenital anomalies (Van Lohuizen's syndrome).Dermatologica. 1981; 163: 408-412Crossref PubMed Scopus (28) Google Scholar As our case demonstrates, the clinically apparent condition of CMTC may serve as a marker for more covert anomalies. It is therefore important to consider the possibility of associated anomalies, especially underlying the lesion, in patients with CMTC and to evaluate these patients appropriately." @default.
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• W2120788997 title "Cutis marmorata telangiectatica congenita in unique association with imperforate anus and myelodysplasia" @default.
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