July 2015 Dermatology Clinic
A full-term newborn male presents with blue-violet reticulated skin lesions that have been present since birth. The mottled patches are localized to one side of his body, affecting his right forearm and leg. The marbled pattern of the lesions appear more prominent when he cries and do not disappear with warming. Physical examination reveals relative hypotrophy of the right leg, as measured by the circumference of the thigh. Cutaneous lesions were absent from other areas of the infant’s body. He had a normal birth weight, length, and head circumference. His mother had a normal pregnancy and uncomplicated vaginal delivery. Neurologic and ophthalmologic examination findings were unremarkable.
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Cutis marmorata telangiectatica congenita (CMTC), also known as van Lohuizen’s syndrome, is a rare, low-flow vascular malformation characterized by a reticulated blue-violet cutaneous vascular network of unknown etiology.1 The major clinical features of CMTC are persistent congenital cutis marmorata, telangiectasia, and phlebectasia.2 The lesions are generally asymptomatic, but in rare cases, there may be underlying cutaneous ulceration or atrophy at the birthmark site. Fewer than 300 cases of CMTC have been reported in the literature, but it may often be misidentified as other vascular anomalies.2,3
The marble-patterned purplish lesions described in CMTC are typically observed at birth or become evident shortly thereafter.3 The areas of skin enclosed by the reticulated patches may be normal or erythematous.4 CMTC is readily discernible at rest and may be diffuse (generalized) or segmental (localized), with the localized and unilateral form being most common.2,4
CMTC has an equal sex distribution and affects the extremities in more than two-thirds of cases, with preferential involvement of the lower limbs, followed by the upper limbs, trunk, and face.2,3 The palms, soles, and mucous membranes are usually spared.4 Lesions on the abdomen tend to show mosaic distribution in streaks with a sharp midline demarcation.2 Diffuse involvement of the entire body has never been observed, and there is no evidence that greater extent of skin involvement is correlated with increased likelihood of associated anomalies.3
CMTC must be distinguished from physiologic cutis marmorata, which is mottling of the skin that is induced by exposure to cold temperatures, seen as lace-like patterns of dusky erythema over the trunks and extremities.1 The purple hue of the reticulated patches in CMTC may be accentuated by a cold environment or distress, but is always discernible at rest.4,5 Unlike cutis marmorata, which is a normal physiologic response in infants aged less than 6 months, the cutaneous lesions of CMTC do not resolve with rewarming and exhibit a coarser vasculature with better defined borders.4
Although pathogenesis of CMTC is unclear, several hypotheses on its etiology have been proposed, including environmental and genetic factors.5,6
The diagnosis of CMTC is made on clinical grounds. Histologic examination of the affected skin reveals multiple dilated capillaries with swollen endothelial cells in the reticular dermis, along with dilated veins and venous lakes.2,6 However, biopsies are generally not indicated due to the nonspecific nature of the microscopic findings.
There is no definitive clinical algorithm for the diagnosis of CMTC, but Kienast and Hoeger suggested a set of criteria, from which the manifestation of all three major criteria and two minor criteria is sufficient for diagnosis.3 The major criteria are presence of congenital reticulated (marmorated) erythema, unresponsiveness to local warming, and absence of venectasias in the affected areas. Minor criteria, which are not essential to but highly suggestive of CMTC, include progressive fading of the lesions within two years, telangiectasias, port-wine stains outside the affected areas, skin ulceration, and atrophy.
A variety of anomalies have been reported in association with CMTC, with rates varying between 18.8% and 70%.3 The anomalies that have been reported include hemangioma, congenital pigmented nevus, café-au-lait spot, nevus flammeus (port-wine stain), nevus anemicus, aplasia cutis, acral cyanosis, glaucoma, and mental retardation.1,2,5 Up to two-fifths of patients have additional vascular anomalies, most of which are port-wine stains or superficial varicose veins that can be found overlying the CMTC lesion or at a distant site.2,3,6 Although associated congenital anomalies are frequently described in patients with CMTC, they are likely to be incidental findings, given their common occurrence in the neonatal population, rather than true clinical accompaniments of CMTC. The most common extracutaneous finding is body asymmetry, either hypertrophy or hypotrophy of the affected limb.2,3,4
For accurate diagnosis of CMTC, it is important to differentiate it from other reticulated vascular lesions and rule out the conditions that have serious health implications. As mentioned previously, the most common lesion presenting as a reticulated erythematous patch is physiologic cutis marmorata. Unlike CMTC, physiologic cutis marmorata is a reversible response to chilling that has a finer symmetric pattern and disappears with warming.2,5 Diffuse phlebectasia (Brockenheimer’s disease) should always be considered; it is a rare progressive hamartomatous malformation characterized by irregular and painful dilation of the deep veins.2,5 Unlike CMTC, diffuse phlebectasia develops gradually in childhood, typically in one limb.3 The differential diagnosis should also include Klippel-Trenaunay syndrome (KTS). Patients with KTS have vascular malformations, most often a port-wine stain, in association with venectasia and soft tissue hypertrophy.3 KTS may be confused with CMTC during early childhood because venectasia may not be visible during the first years of life. However, the port-wine stain in KTS does not undergo spontaneous resolution with age, but rather darkens to a deeper pigmented birthmark.2,3
CMTC is largely a cosmetic problem that has a benign course and commonly resolves on its own. The skin lesion usually completely disappears or markedly improves in its mottled appearance over time in most patients, particularly during the first two years of life.1,2,4,6 After the lesion has faded, residual telangiectasias may be treated with pulsed dye laser if there are concerns about physical appearance. Referrals to ophthalmology or neurology are indicated only if relevant symptoms are present or if vascular lesions overlap the eye region. Routine follow-up examinations for the first few years of life are recommended to screen for associated anomalies and to properly identify any conditions that initially mimic CMTC.
In this case, the patient’s mother was reassured about the benign condition. She was told to expect the lesions to fade by age 2 years, and to follow up if associated symptoms develop. n
Julie Nguyen, BS, is a medical student and Maura Holcomb, MD, is a dermatology resident at Baylor College of Medicine in Houston.
- Goldsmith LA, Katz SI, Gilchrest BA, et al., eds. Fitzpatrick’s Dermatology in General Medicine. 8th ed. New York, N.Y.: The McGraw-Hill Companies, Inc.; 2012:Chap. 107.
- Amitai DB, Fichman S, Merlob P, et al. Cutis marmorata telangiectatica congenita: Clinical findings in 85 patients. Pediatr Dermatol. 2000;17(2):100-104.
- 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(3):319-323.
- Picascia DD, Esterly NB. Cutis marmorata telangiectatica congenita: Report of 22 cases. J Am Acad Dermatol. 1989;20(6):1098-1104.
- Devillers AC, de Waard-van der Spek FB, Oranje AP. Cutis marmorata telangiectatica congenita: Clinical features in 35 cases. Arch Dermatol. 1999;135(1):34-38.
- Redondo P, Aguado L, Martínez-Cuesta A. Diagnosis and management of extensive vascular malformations of the lower limb: Part I. Clinical diagnosis. J Am Acad Dermatol. 2011;65(5):893-906.