Are You Confident of the Diagnosis?
What you should be alert for in the history
Cutis marmorata telangiectatica congenita (CMTC) is a cutaneous vascular malformation defined by persistent reticulate erythema (cutis marmorata). It may present with a variety of congenital anomalies, most commonly hypoplasia or hyperplasia of the affected limb. CMTC invariably presents at birth or within a few days of age.
Characteristic findings on physical examination
The most characteristic finding on physical examination is a net-like pattern of red to purple skin, composed of either finely reticulated or coarse streaks. The vascular pattern is fixed, gets darker in cold and does not resolve with warming of the skin. The areas within the vascular network often appear pale.
Other associated cutaneous findings include telangiectasias, atrophy, ulceration, and prominent veins. CMTC is usually segmental, and most commonly occurs on an extremity (Figure 1, Figure 2) and an adjacent portion of the trunk; however, focal, multifocal or a generalized distribution are also possible.
Expected results of diagnostic studies
The diagnosis is made by clinical examination. Skin biopsy not usually not necessary. If performed, histopathology reveals dilated capillaries and veins in the deeper dermis. Further imaging is only indicated for suspicion of associated congenital abnormalities.
CMTC may be associated with orthopedic, ocular, neurologic, or other vascular anomalies. Up to 50% of affected indivuduals are noted to have atrophy or hypertrophy of the affected limb. Skeletal defects can uncommonly occur, and range from skull to bony abnormalities in extremities. Additional vascular abnormalities can occur, either in sites within the CMTC or distant to it.
CMTC is associated with two distinct conditions: Adams-Oliver syndrome and phakomatosis pigmentovascularis. Adams-Oliver syndrome is characterized by CMTC, aplasia cutis congenita of the scalp, and distal limb reduction anomales. Phakomatosis pigmentovascularis patients demonstrate a vacular malformation with a nevomelanocytic lesion.A group of patients with macrocephaly, cutis marmorata, and other skeletal abnormalities were previously defined as having CMTC-macrocephaly syndrome, though to be a subset of CMTC. Experts have recently renamed this disease to macrocephaly-capillary malformations, emphasizing that patients typically have a different course than those with CMTC.
Several other conditions can mimic CMTC. Physiologic cutis marmorata occurs in the majority of newborns, but the reticulate pattern resolves with warming. Livedo reticularis can occur in association with collagen vascular diseases, but usually the onset is later in life. Neonatal lupus erythematosis may present with a livedo pattern, but these patients would have serologic evidence of sjogrens syndrome antibodies. Bockenheimer syndrome is a rare disorder that presents in infancy, but is typically associated with diffuse phlebectasia.
Generalized reticulated capillary malformation involves the entire body, but does not typically have other skin or limb abnormalities. Patients with other genetic syndromes, including Cornelia de Lange, Down’s syndrome, homocystinuria, and Divry and Van Boagaert syndrome (diffuse corticomeningeal angiomatosis) may have cutis marmorata in association with a constellation of other findings.
Finally, until recently, CMTC has been mistakenly identified with a constellation of findings that include macrocephaly, and port wine stains. More precisely, these cases should be re-classified as macrocephaly-capillary malformation syndrome, since the vascular anomalies are generalized telangiectatic port-wine stains that involve the torso, extremities and central face and not CMTC. The affected individuals may also have hemihypertrophy, motor and later developmental delay
Who is at Risk for Developing this Disease?
CMTC is one of the more rare vascular malformations, with only about 300 cases reported in the literature. In most instances, it occurs sporadically. However, there has been a genetic basis with autosomal dominant transmission proposed in a few affected families, particularly in the Adams-Oliver syndrome.
What is the Cause of the Disease?
The etiology of CMTC is unknown, with no clear genetic or environmental etiology. The sharp midline demarcation of lesions suggests genetic mosaicism as a contributing factor.
Doppler studies have shown a decreased flow rate of red blood cells, suggesting an abnormality in the vascular innervation of affected areas.
Systemic Implications and Complications
Managment revolves around associated congential anomalies. For patients with skeletal abnormalities, consultation with orthopedics is essential. Patients with periocular vascular malformations must have regular ophthalmologic examinations for monitoring for the development of cataracts. Patients with neurologic abnormalities, particularly those with macrocephaly-CMTC, must have prompt evaluation with a neurosurgeon, with consideration of shunting for those patients with hydrocephalus.
CMTC persists in most patients, but lightens with age. Pulsed dye laser may lighten small superficial vessels, but deeper areas do not respond well.
Optimal Therapeutic Approach for this Disease
There is no optimal treatment for the skin lesions. Observation is reasonable, as most cutaneous lesions will improve spontaneously over time. The pulsed dye laser may lighten lesions. Severe cases may demonstrate ulcerations, which could become secondarily infected. Appropriate wound care, including topical mupirocin, may be indicated in such circumstances. Complications (orthopedic, ocular, neurologic, etc) should be treated by the appropriate specialists.
Diagnosis of CMTC is made primarily on a clinical basis. All patients should initially be evaluated for other congenital anomalies. To evaluate for orthopedic anomalies, limb length and girth should be assessed for discrepancies. For vascular lesions around the eyes, patients should have baseline and follow-up ophthalmologic examinations.
An enlarged head circumference is usually associated with CMTC-macrocephaly, a subset of CMTC in which patients typically have developmental delay, connective tissues defects, and additional congenital malformations. These patients will often require more extensive neurologic and orthopedic management.
Patients with a scalp defect often fulfill criteria of Adams-Oliver syndrome, and such patient will neurosurgic intervention to help with closure of any potential bone defecits.
Unusual Clinical Scenarios to Consider in Patient Management
Rare syndomes associated with CMTC (Adams-Oliver, Cornelia de Lange, Down, homocysteinuria, Divry-Van Boagaert) should be referred to a geneticist.
What is the Evidence?
Devillers, ACA, de-Waard-van der Spek, FB, Oranje, AP. ” Cutis marmorata telangiectatica congenita: clinical features in 35 cases”. Arch Dermatol. vol. 135. 1999. pp. 34-8. (Only two of 35 cases of CMTC accessioned over a nine-year period had generalized involvment. All others had segmental or localized disease. Although 80 percent had other anomales identified, most were minor and of little consequence. Fading after 2 years was the rule.)
Fujita, M, Darmstadt, GL, Dinulos, JG. ” Cutis marmorata telangiectatica congenita with hemangiomatous histopathologic features”. J Am Acad Dermatol. vol. 48. 2003. pp. 950-4. (This case report and literature review of histopathology demostrated dermal capillary and venous dialation as halmarks of CMTC. Only two cases (their own included) had proliferative vascular chanels.)
Garzon, AC, Shweiger, E. ” Cutis marmorata telangiectatica congenita”. Semin Cutan MedSurg. vol. 23. 2004. pp. 99-106. (This is a general review of the literature discussing the salient features of CMTC.)
Gerritsen, MJP, Steiljen, PM, Brunner, HG, Rieu, P. ” Cutis marmorata telangiectatica congenita: report of 18 cases”. Br J Dermatol. vol. 142. 2000. pp. 366-9. (This 17-year review of 18 cases from a single center emphasized the wide range of associated anomales seen in 61% of their cases, which included hypothyroidism, deafness, body asymmetry and other birthmarks. Three cases of capillary malformation-macrocephaly syndrome were included in the paper.)
Wright, DR, Frieden, IJ, Orlow, SJ. “The Misnomer “Macrocephaly-Cutis Marmorata Telangiectatica Congenita Syndrome” Report of 12 new cases and support for revising the name to Macrocephaly-Capillary Malformations”. Arch Dermatol. vol. 145. 2009. pp. 287-93. (These patients have reticulated or confluent port wine stains not CMTC. Somatic overgrowth, developmental delay and craniofacial anomales are common.)
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. vol. 34. 2009. pp. 319-23. (The authors suggest that body asymmetry is the most common association. Fading was seen in 2/3 of cases. Diagnostic criteria were suggested to separate this disorder from other vascular syndromes. Sensitivity and specificity of these criteria need to be verified.)
Lobo-Mueller, E, Amaral, JG, Babyn, PS, Wang, Q, John, P. ” Complex combined vascular malformations and vascular malformation syndromes affecting the extremities in children”. Sem Musculoskel Radiol. vol. 13. 2009. pp. 255-76. (This review highlights the utility of magnetic resonance imaging (MRI) in the delineation of many vascular malformation syndromes including CMTC.)
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