Spot Diagnosis

Generalized Dilated Superficial Veins and Telangiectasia in a Newborn Infant

Atika Caglar1, Nilay Hakan2, Mustafa Aydin1, Erdal Taskin1
1Department of Neonatology, Firat University School of Medicine, Elazig, Turkey, 2Department Neonatology, Sitki Kocman University School of Medicine, Mugla, Turkey

Address for Correspondence: Mustafa AYDIN, MD, Department of Pediatrics-Neonatology, Firat University School of Medicine, 23119, Elazig / Turkey.
Question :
Keywords: vascular malformations, genodermatoses, neonate

A 39-year-old Caucasian woman delivered a male baby at the 38th week of gestation. The neonate had a birth weight of 2.8 kg (5th centile) and was born of 3rd-degree consanguineous marriage. On examination, the child had generalized dilated superficial veins, and telangiectasia involving the legs, arms, and trunk (Figure 1). The lesions spared the palms and soles. Systemic examination was normal. Ultrasonogram of the head and abdomen were normal. Echocardiogram of the heart revealed a secundum-type atrial septal defect and patent ductus arteriosus.

Figure 1. Skin shows generalized dilated superficial veins, and telangiectasia involving the legs, arms, and trunk

What is the diagnosis?

Discussion :
Cutis marmorata telangiectatica congenita (CMTC) or Van Lohuizen syndrome. It is an uncommon congenital vascular anomaly with unknown etiology. It is characterized by persistent cutis marmorata, telangiectasia, and phlebectasia.1 The cutaneous lesions commonly occur on the legs, arms, and trunk and rarely involve the face and scalp. Only 300 cases have been reported so far.2 The rate of anomalies reported in association with CMTC varies between 18.8% and 70% and most commonly reported anomalies are limb asymmetry and the coexistence of other vascular birthmarks. Other anomalies include glaucoma and macrocephaly.3 Cutaneous lesions improve with time, but skin ulceration and/or atrophy may develop over a period of time.4

References :
  1. Van Lohuizen CHJ. [Über eine seltene angeborene Hautanomalie (Cutis marmorata telangiectatica congenita)]. Acta Derm Venereol. 1922; 3: 2001-2011.
  2. Wollina U, França K, Lotti T, Tchernev G. Van Lohuizen syndrome - a case report with a diagnostic delay of four years. Open Access Maced J Med Sci 2018; 6: 74-75.
  3. Amitai DB, Fichman S, Merlob P, Morad Y, Lapidoth M, Metzker A. Cutis marmorata telangiectatica congenita: clinical findings in 85 patients. Pediatr Dermatol. 2000; 1: 100-4.
  4. Kienast AK, Hoeger PH. Cutis marmorata telangiectatica congenita: a prospective study of 27 cases and review of the literature with proposal of diagnostic criteria. Clin Exp Dermatol 2009; 34: 319-323.

Correct Answers : yes  100%

Last Shown : Aug 2019
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