Cutis marmorata telangiectatica congenita (congenital generalized phlebectasia)

South, David A.; Jacobs, Alvin H.

doi:10.1016/s0022-3476(78)81216-5

Cited by 75 publications

(64 citation statements)

References 12 publications

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“…The overall incidence of psychomotor retardation in patient with CMTC has been reported between 0% and 22%, and the presence of neurologic abnormalities may be a diagnostic feature of macrocephaly-CMTC syndrome. [6][7][8]10,19,[22][23][24][25] Devilliers found neurological abnormalities in 14% of patients with CMTC (macrocephaly, hydrocephalus, psychomotor retardation, seizures, cerebral atrophy, agenesis of corpus callosum and dilated brain ventricles); one of this fulfilled the diagnostic criteria of Macrocephaly-CMTC Syndrome. 22 Three patients of Kienast's prospective study were preterm infants born at 27, 33 and 34 weeks of GA. 3 Previously, prematurity in CMTC was described only in other two cases: the first one, a male born at 31 weeks of GA delivered by cesarean section due to placenta previa totalis; the second one a male born at 33 weeks of GA delivered by cesarean section due to maternal hypertension.…”

Section: Discussionmentioning

confidence: 96%

“…Clinical features include persistent cutis marmorata, telangiectasia and phlebectasia, generalized or most commonly localized, especially at the lower limbs, followed by the trunk and face. [2][3][4][5][6] Occasionally ulceration and atrophy of the involved skin may be present. 5,7,8 The reticulated mottling frequently becomes more prominent in cold environment but doesn't disappear with warming.…”

Section: Discussionmentioning

confidence: 99%

“…2,17 Review of the literature indicates that more than 50% (18.8%-89%) of the CMTC patients present associated cutaneous and/or extracutaneous anomalies. 3,[5][6][7][8]10,[18][19][20][21][22][23][24] This variability may be explained by the lack of precise diagnostic criteria. The first association with congenital anomalies was described by Petrozzi et al in 1970: they found a patent ductus arteriosus and a Sturge-Weber syndrome.…”

Section: Discussionmentioning

confidence: 99%

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Cutis Marmorata Telangiectatica Congenita in a Preterm Female Newborn: Case Report and Review of the Literature

et al. 2014

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RiassuntoLa Cutis Marmorata Telangiectatica Congenita (CMTC) è una condizione rara, di solito presente alla nascita, caratterizzata da cutis marmorata persistente, localizzata o generalizzata, telangectasia e flebectasia. Riportiamo il caso di una neonata pretermine, terzogenita di genitori caucasici non consanguinei, con CMTC alla nascita che mostrava le tipiche lesioni cutanee e glaucoma congenito monolaterale. La patogenesi di questo disordine non è nota e la causa è probabilmente multifattoriale. Come fattori etiologici sono stati ipotizzati l'esposizione ad agenti teratogeni ed un meccanismo di trasmissione autosomico dominante a penetranza incompleta. La prognosi, nei casi senza complicazioni, è buona. AbstractCutis Marmorata Telangiectatica Congenita (CMTC) is a rare, sporadic condition usually present at birth characterized by localized or generalized persistent cutis marmorata, telangiectasia and phlebectasia. We report a preterm female newborn, the third child of non-related caucasian parents, with CMTC at birth who showed typical cutaneous features and monolateral congenital glaucoma. The pathogenesis of this disorder is unknown and the cause is probably multifactorial.Teratogens and autosomal dominant mode of inheritance with incomplete penetrance have been considered as etiological factors. Prognosis, in uncomplicated cases, is good. Case reportM.R. is a female newborn spontaneously delivered at 33 weeks and 5 days of gestational age (GA) for maternal preeclampsia. The baby needed no resuscitation at birth. Apgar score was 9-9 at 1' and 5' minutes of life respectively. Family medical history was noncontributory. During first hours of life, for incoming of respiratory distress syndrome, exogenous porcine surfactant was administered and mechanical ventilation performed for about 24 hours. Hypoglycemia was corrected by infusion of 10% glucose solution through umbilical venous catheter. Since birth marbled bluish and deep purple reticulated skin lesions involving the whole body were noted. The lesions were prominent over the trunk and face but more pronounced over the limbs and became more visible with crying and exposure to room temperature (Fig.1). Clinical characteristics and persistence of cutis marmorata prompted the diagnosis of Cutis Marmorata Telangiectatica Congenita (CMTC). The baby had normal face, head circumference 32.5 cm (90° percentile), birth weight 2,688 Kg (>97° percentile), length 48 cm (>97° percentile), without other vascular anomalies or asymmetry of limbs growth. Neurological examination showed mild hypotonia of the trunk, poor spontaneous motor activity, autonomic instability and immaturity of the organization of behavioral states, while ophthalmological evaluation detected unilateral congenital glaucoma in the left eye. Cardiac examination, audiologic screening, Magnetic Resonance Imaging (MRI) and abdominal ultrasound were normal. At four month of life, under general anesthesia, she underwent surgical trabeculotomy ab externo in the left eye with uneventful postoperative cours...

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Section: Discussionmentioning

confidence: 96%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Cutis Marmorata Telangiectatica Congenita in a Preterm Female Newborn: Case Report and Review of the Literature

et al. 2014

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“…Se ubican de preferencia en las extremidades, siendo las inferiores las más afectadas. También puede observarse compromiso del tronco y la cabeza, y es poco frecuente en mucosas, palmas y plantas [2][3][4] .…”

Section: Cuadro Clínicounclassified

“…En cuanto a las anomalías cutáneas, las que se observan con mayor frecuencia son el Nevus Flammeus, Aplasia Cutis Congénita, Hemangiomas, Manchas Café Con Leche y Manchas Mongólicas. Por otra parte, el Glaucoma Congénito es la anomalía ocular asociada descrita con mayor frecuencia 1,3,4,6 .…”

Section: Diagnósticounclassified

Cutis Marmorata Telangiectático Congénito: A Propósito de Cuatro Casos

2010

Rev. chil. pediatr.

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Congenital Cutis Marmorata Telangiectasia: Four Case ReviewCongenital Cutis Marmorata Telangiectasia (CCMT) is a skin vascular malformation of low fl ow compromising venous and capillary vessels. Of unknown origin, it shows in an estimated 1/3 000 births. In over 90% of cases it can be seen since birth, although it can appear on the fi rst few days after. Clinical manisfestation includes poorly defi ned reticular erythematopurpureal maculae, frequently associated to areas of segmental, asymetric skin atrophy, most often seen in the lower extremitie. The diagnosis is mostly clinical, important to make as it is associated in 30% of cases to other congenital abnormalities. No specifi c treatment is required, with spontaneous resolution. Prognosis is good, depending on the associated malformations. Four patients are described in this paper, as a reminder of the clinical entity. RESUMENEl Cutis Marmorata Telangiectático Congénito (CMTC) es un tipo de malformación vascular cutánea de bajo fl ujo que compromete vasos capilares y venosos. Su causa es desconocida y tiene una incidencia estimada de 1/3 000 recién nacidos. En más del 90% de los casos se presenta desde el nacimiento. Sin embargo, también puede aparecer en los primeros días de vida. Clínicamente se observan máculas eritematovioláceas, de aspecto reticulado, de bordes mal defi nidos, asociado frecuentemente a zonas de atrofi a cutánea, de distribución segmentaria, asimétricas. Se ubican de preferencia en las extremidades, siendo las inferiores las más afectadas. El diagnóstico es fundamentalmente clínico y su importancia radica en que aproximadamente el 30% de los casos se asocia a otras anomalías congénitas, la mayoría de carácter leve. No tiene un tratamiento específi co, ya que evoluciona en poco tiempo a la resolución en forma espontánea. El pronóstico es generalmente bueno, aunque depende de las anomalías asociadas. En este artículo se presentan cuatro pacientes cuya historia clínica es compatible con este diagnóstico, para dar a conocer esta entidad clínica a los pediatras.

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