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...