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Kyphotic Deformity of the Spine
Published in Benjamin Joseph, Selvadurai Nayagam, Randall T Loder, Anjali Benjamin Daniel, Essential Paediatric Orthopaedic Decision Making, 2022
A 17-year old-male presented for evaluation of a progressive spinal deformity in the upper thoracic spine (Figure 19.1a–e). Diagnoses of cutis marmorata telangiectatica congenita syndrome, congenital hydrocephalus, macrocephaly, growth hormone deficiency, hypothyroidism, and Chiari malformation with basilar invagination had been made previously. He also had a history of a vertebro-basilar ischemic stroke at 1 year of age. At the age of 1 year, he underwent C1–2 laminectomy with Chiari decompression and partial resection of his cerebellar tonsils. At 12 years of age, a repeat intradural decompression was abandoned due to adhesions. The following year, he was diagnosed with a syrinx and underwent a T4 laminectomy and placement of a syringo-pleural shunt. A follow-up MRI revealed that the syrinx was still present but was slightly smaller (Figure 19.2a, b).
Cutis marmorata telangiectatica congenita successfully treated with intense pulsed light and pulse dyed laser therapy: a case report
Published in Journal of Cosmetic and Laser Therapy, 2020
Elisabeth H. Tracey, Anna Eversman, Daniel Knabel, Mahwish Irfan
Cutis marmorata telangiectatica congenita (CMTC) is an uncommon vascular anomaly generally present at birth. While the majority of cases are sporadic, some familial cases have been reported. Approximately half of CMTC lesions are isolated, while half are associated with other congenital anomalies. Among the latter group, limb asymmetry and additional vascular malformations are most common (1). Cutaneous manifestations may be generalized or localized and are often segmental. The lower extremities are most frequently affected, followed by the trunk and upper extremities. The diagnosis of CMTC is made clinically (2). It should be distinguished from physiologic cutis marmorata which is transient and disappears with warming, whereas CMTC is fixed. Skin atrophy, soft tissue hypoplasia, telangiectasias, and ulcerations are unique to CMTC and can help confirm the diagnosis (3).
Cutis marmorata telangiectatica congenita: a focus on its diagnosis, ophthalmic anomalies, and possible etiologic factors
Published in Ophthalmic Genetics, 2020
Matthew S. Elitt, Joan E. Tamburro, Rocio T. Moran, Elias Traboulsi
Cutis marmorata telangiectatica congenita (CMTC, OMIM #219250) is a sporadic, congenital disorder characterized by cutaneous vascular abnormalities that typically occur in a localized distribution (1). The first case was documented in 1922 by the Dutch female pediatrician Cato van Lohuizen (2), but only ~300 cases have been described since that time (3,4). The precise etiology of CMTC remains elusive, and various genetic and non-genetic mechanisms have been suggested (5). No defining histopathological features have been identified (6,7), and the diagnosis is currently based on its cutaneous clinical features (4,5). Unfortunately overlap of CMTC’s clinical signs with several other disorders, including Klippel-Trenaunay syndrome, and Sturge-Weber syndrome, present challenges for the diagnosing clinician (3,5). Additionally CMTC is quite rare, further complicating the development of a comprehensive profile of its clinical features – including its ocular abnormalities.
Cutis mormorata telangiectatica congenital successfully treated with intense pulsed light therapy: A case report
Published in Journal of Cosmetic and Laser Therapy, 2018
Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital disorder characterized by cutis marmorata, telangiectasia with or without recurrent ulcerations and sometimes associated underlying cutaneous atrophy. Its incidence is sporadic, and its etiology is obscure. CMTC is a benign vascular anomaly with dilatation of capillaries and veins in the dermis. Usually a lower extremity is involved, but location on the trunk is not uncommon. A multitude of associated anomalies can occur, including limb asymmetry, hemangiomas and other vascular birthmarks, pigmented nevi, and aplasia cutis congenita. Diagnosis is usually evident on clinical examination (1). Bilateral involvement of breast in CMTC is reported by Lunge and Mahajan. (2) However, majority of patients have a good prognosis, with half demonstrating improvement of the mottled appearance over the first years.