Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital vascular malformation characterized by a distinctive reticular, net-like pattern on the skin. While striking in appearance, CMTC shares visual similarities with other conditions, most notably the common and benign physiologic cutis marmorata. Accurate diagnosis is crucial because CMTC can be associated with various cutaneous and extracutaneous anomalies that require monitoring and management. This article delves into the differential diagnosis of cutis marmorata telangiectatica congenita, highlighting key distinctions from other conditions to ensure correct identification and patient care.
Understanding Cutis Marmorata Telangiectatica Congenita (CMTC)
Cutis marmorata telangiectatica congenita presents at birth with a marbled or reticulated bluish-purple to reddish pattern on the skin. This vascular network is caused by dilated capillaries and venules in the dermis. The presentation can be generalized, affecting most of the body, or localized to a specific area, often a limb. In localized cases, the lesion typically respects the midline and may exhibit sharp borders. The color intensity can vary, ranging from deep violet to red. Although CMTC is generally considered a sporadic condition, familial cases suggest a potential genetic component.
CMTC vs. Physiologic Cutis Marmorata: Key Differences
The most important condition to differentiate CMTC from is physiologic cutis marmorata. Physiologic cutis marmorata is a very common and benign skin finding in infants, characterized by a transient, lacy, bluish mottling of the skin in response to cold exposure. This is due to the normal physiological response of superficial blood vessels to temperature changes in newborns. Distinguishing between these two conditions is paramount, and several key differences aid in differential diagnosis:
Response to Warming: Physiologic cutis marmorata is transient and disappears or significantly fades with warming of the skin. In contrast, the reticular pattern of CMTC persists even when the skin is warmed. This lack of blanching with warming is a hallmark feature differentiating CMTC.
Associated Findings (Cutaneous and Extracutaneous): Physiologic cutis marmorata is an isolated finding, not associated with other skin changes or systemic problems. CMTC, however, can be associated with a range of cutaneous and extracutaneous findings. Cutaneous features seen in CMTC, but not in physiologic cutis marmorata, include:
- Prominent Veins and Telangiectasias: CMTC lesions may exhibit visibly enlarged veins and telangiectasias (small, dilated blood vessels near the skin surface).
- Cutaneous Atrophy: Thinning of the skin within the affected area is a common feature of CMTC and was observed in the presented case.
- Ulceration and Hyperkeratosis: In some cases, CMTC lesions can develop skin ulcerations or hyperkeratosis (thickening of the outer layer of skin).
- Sharp Demarcation: Localized CMTC lesions often have sharply defined borders, unlike the more diffuse and mottled appearance of physiologic cutis marmorata.
Extracutaneous anomalies have been reported in a significant percentage of CMTC cases, ranging from 20% to 80% in various studies. The most frequently reported extracutaneous finding is asymmetry, particularly limb asymmetry, as seen in the presented case with right thigh atrophy. Other reported extracutaneous findings include:
- Skeletal Defects: Syndactyly (fused fingers or toes), tendinitis stenosans, hip dysplasia, clubfoot, and cleft palate.
- Ocular Abnormalities: Glaucoma, especially in patients with facial CMTC lesions. Ophthalmologic evaluation is recommended in these cases.
- Vascular Anomalies: Port-wine stains, angiokeratomas, and hemangiomas, both within and outside the CMTC lesion.
- Neurologic Abnormalities: Developmental delay and macrocephaly, features that are now associated with macrocephaly-capillary malformation syndrome, which was initially considered a subtype of CMTC.
Reticular erythematous patch and subtle cutaneous atrophy over the right thigh extending to the midsection of the shin, consistent with cutis marmorata telangiectatica congenita, in a three-month-old girl.
Clinical Significance of Accurate CMTC Diagnosis
Accurate diagnosis of CMTC is essential for several reasons. Firstly, it differentiates a benign physiologic variant from a condition that may have associated complications. Secondly, recognizing CMTC prompts clinicians to screen for and monitor potential associated anomalies. Thirdly, understanding the differential diagnosis helps avoid misdiagnosis and ensures appropriate patient management and counseling for families.
Differential Diagnosis of Cutis Marmorata Telangiectatica Congenita
Besides physiologic cutis marmorata, several other conditions can mimic CMTC, requiring careful consideration in the differential diagnosis.
Common Mimics of CMTC:
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Physiologic Cutis Marmorata: As discussed, the primary differential diagnosis. Persistence upon warming, presence of atrophy, ulceration, or associated anomalies points towards CMTC.
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Persistent Cutis Marmorata: While typically transient, cutis marmorata can be persistent in certain genetic syndromes, including Down syndrome, de Lange syndrome, homocystinuria, and Divry–Van Bogaert syndrome. Clinical context and evaluation for features of these syndromes are important.
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Reticular Capillary Malformation (Port-Wine Stain): Port-wine stains are congenital capillary malformations that can sometimes present in a reticular pattern, mimicking CMTC. Like CMTC, they can be localized and unilateral. However, port-wine stains are less likely to fade over time, have more distinct borders, and are not typically associated with underlying atrophy, features that help differentiate them from CMTC. In some instances, distinguishing between reticular port-wine stain and CMTC can be challenging, especially early in life.
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Bockenheimer Syndrome: Also known as diffuse phlebectasia, this rare condition presents in early infancy with progressive venous ectasias. These venous malformations are often larger and can be painful, distinguishing them from CMTC.
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Neonatal Lupus Erythematosus: Neonatal lupus can present with various skin findings, including reticular erythema. However, it is usually associated with maternal antibodies (anti-Ro/SSA and anti-La/SSB) and may involve other organ systems, such as the heart (congenital heart block). Serological testing and assessment for systemic involvement are crucial in differentiating neonatal lupus.
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Macrocephaly–Capillary Malformation (MCM) Syndrome: Initially considered a subtype of CMTC, MCM is now recognized as a distinct entity. While both conditions involve reticular skin lesions, MCM is characterized by macrocephaly, capillary malformations (often more widespread than CMTC lesions), and other features like developmental delay, hypotonia, and segmental overgrowth. Measuring head circumference and assessing for developmental milestones are important in the differential diagnosis.
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Adams–Oliver Syndrome: This rare syndrome can present with cutis marmorata telangiectatica congenita-like skin findings, but it is also associated with distinctive terminal transverse limb defects (missing fingers or toes, or distal limb segments) and scalp defects (aplasia cutis congenita). The presence of limb and scalp anomalies helps distinguish Adams-Oliver syndrome.
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Phakomatosis Pigmentovascularis (PPV) with Cutis Marmorata Telangiectatica Congenita: PPV is a group of syndromes characterized by the co-occurrence of vascular malformations and pigmentary lesions. Some subtypes of PPV can include CMTC along with other vascular birthmarks and dermal melanocytosis. Careful examination for other types of vascular and pigmentary lesions is needed.
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Klippel–Trénaunay Syndrome (KTS): KTS is a congenital vascular malformation syndrome characterized by the triad of capillary malformations (port-wine stains), venous malformations, and limb hypertrophy (overgrowth). While KTS involves vascular malformations, the presence of limb hypertrophy and the typical port-wine stain appearance, along with the absence of the characteristic CMTC reticular pattern in most cases, helps differentiate it.
Diagnostic Criteria for CMTC
While clinical evaluation and differentiation from mimics are crucial, diagnostic criteria for CMTC have been proposed to aid in diagnosis. Kienast and Hoeger proposed criteria that include:
Major Criteria (all three must be present):
- Congenital reticular (marmorated) erythema.
- Absence of venectasia (this is debated as venectasia can be present).
- Unresponsiveness to local warming.
Minor Criteria (two or more must be present):
- Fading of erythema within two years.
- Telangiectasia within the affected area.
- Port-wine stain.
- Ulceration within the affected area.
- Atrophy within the affected area.
It’s important to note that the validity of these criteria is still under investigation, and diagnosis remains primarily clinical.
Monitoring and Follow-Up for CMTC Patients
Once CMTC is diagnosed, and initial screening for associated anomalies is performed, regular follow-up is recommended, particularly for the first few years of life. Annual visits for at least three years are suggested to monitor for the development of any associated anomalies and to reassess the diagnosis, ruling out conditions that may have initially mimicked CMTC. Limb asymmetry, a common associated finding, often persists even as the vascular lesion may lighten over time.
Key Takeaways: CMTC Differential Diagnosis
- Cutis marmorata telangiectatica congenita is a rare congenital vascular malformation that needs to be distinguished from physiologic cutis marmorata and other conditions presenting with reticular erythema.
- Key differentiating features of CMTC include persistence of the reticular pattern upon warming and the potential presence of cutaneous and extracutaneous anomalies.
- A thorough clinical evaluation, considering the response to warming, associated skin findings, systemic features, and relevant differential diagnoses, is crucial for accurate diagnosis.
- Ongoing monitoring for associated anomalies is an essential part of the management of patients diagnosed with CMTC.
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