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Cutis marmorata telangiectatica (CMTC) is a rare, sporadic, congenital cutaneous vascular disorder of unknown etiology. CMTC usually presents at birth with persistent cutis marmorata, vascular telangiectasia, and occasionally, ulcers. There is typically improvement of this reticular vascular skin pattern during the first year with gradual improvement in time. Some infants with CMTC have been associated with musculoskeletal anomalies, vascular abnormalities, cardiac defects, neurological defects, and ocular anomalies. This activity reviews the workup of cutis marmorata telangiectatica congenita and describes the role of health professionals working together to manage this condition. Objectives: Describe the presentation of cutis marmorata telangiectatica congenita. Summarize the treatment of cutis marmorata telangiectatica congenita. Describe the differential diagnosis of cutis marmorata telangiectatica congenita. Outline the workup of cutis marmorata telangiectatica congenita and describes the role of health professionals working together to manage this condition. Access free multiple choice questions on this topic.

Cutis marmorata telangiectatica congenita (CMTC) is a rare, sporadic, congenital cutaneous vascular disorder of unknown etiology.[1][2] CMTC usually presents at birth with persistent cutis marmorata, vascular telangiectasia, and occasionally, ulcers.[1] This reticular vascular skin pattern typically improves during the first year, with gradual progression thereafter.[1] Some infants with CMTC have been associated with musculoskeletal anomalies, vascular abnormalities, cardiac defects, neurological defects, and ocular anomalies.

CMTC is usually present at birth; however, delayed onset has been reported, with lesions developing 3 months to 2 years later.[2][3] The incidence of CMTC is unknown; to date, approximately 300 cases have been reported.[3] No gender predilection has been observed in CMTC.[3] Many studies have suggested a female predominance; however, the difference was not statistically significant.[4]

The pathogenesis of this disorder is unclear and likely multifactorial.[3] Most cases of CMTC have occurred sporadically.[3] An autosomal-dominant inheritance pattern with incomplete penetrance and teratogenic effects has been considered in the development of CMTC.[3] Some authors have proposed a lethal gene hypothesis based on the patchy distribution of lesions and their sporadic nature.[4] Elevated maternal serum human chorionic gonadotrophin level and fetal ascites have also been associated with this disease.[4]

The diagnosis of CMTC is clinical, as histology is nonspecific. Swollen endothelial cells, abnormal dilation of multiple capillaries in all dermal and subcutaneous layers, and dilated veins and venous lakes are present.[1][2] Sparse perivascular lymphocytic infiltration within the dermis may also be seen.[2]

CMTC is characterized by a dark purple to red, reticulated vascular pattern intermixed with telangiectasia and occasionally prominent veins.[5][6] The lesions can be localized or generalized and usually present at birth.[3][4] The localized variant is said to be more common, affecting about 60% of children with the disease, while the generalized form is said to occur in about 40% of children with CMTC.[4] When localized, it presents unilaterally, in a segmental fashion with a sharp demarcation that does not cross midline, usually affecting the lower limbs, followed by the trunk and face.[2] Generalized forms of CMTC tend to spare palms, soles, and mucous membranes while most commonly affecting the trunk, limbs, face, and scalp.[4] Areas of skin that are enclosed by the reticulated pattern may be normal, erythematous, atrophic, and or even ulcerated.[7] The purple mottling of the lesions may be accentuated in cold environments; however, persistent mottling of the skin after warming is a diagnostic hallmark of CMTC.[3] Some lesions can be blanched readily on palpation, while other lesions may be partly obliterated even with firm pressure.[2] Hypotrophy of the affected limb is the most common associated finding. However, hypertrophy of the limb may also be seen.[1] Other associated extracutaneous findings include: Skeletal anomalies such as syndactyly, tendinitis, stenosis, and cleft palate Glaucoma Other vascular anomalies like port-wine stains, angiokeratomas, and hemangiomas Neurological anomalies such as macrocephaly, presenting as Macrocephaly-cutis marmorata telangiectasia congenita, a syndrome that also includes neonatal hypotonia, developmental delay, overgrowth, and connective-tissue defects.[8]

Diagnosis of CMTC is clinical, with diagnostic criteria proposed by Kienast and Hoeger, which include the presence of 3 major criteria: congenital reticular erythema, absence of venectasia, and unresponsiveness to local warming; and the presence of 2 or more minor criteria: fading of erythema within 2 years, telangiectasia within the affected area, port-wine stain, ulceration withing affected area, and atrophy within the affected area. These criteria, however, have not been validated.[8] Imaging studies are indicated when an associated congenital anomaly is suspected. Consider referral for evaluation by ophthalmology, orthopedic surgery, neurosurgery, and/or vascular cosmetic surgery, depending on the presenting abnormality. Limb girth and length measurements should be monitored on follow-up.[4] Affected patients should be screened for associated anomalies for at least 3 years.[1]

CMTC usually does not require the treatment of skin lesions.  Fading of erythema and marmorization during the first 2 years of life is common, most likely due to normal skin thickening and maturation; however, they rarely disappear completely.[1][7] Avoidance of cold, vasodilators, aspirin, pentoxifylline, and PUVA are among the many reported treatments that have yielded varying results.[6] Studies have shown CMTC generally responds poorly to laser therapy.[3] If ulceration is present, treat the infected areas and apply occlusive dressings as indicated.

The differential diagnosis of CMTC includes physiological cutis marmorata, Klippel-Trenaunay syndrome, Sturge-Weber syndrome, Adams-Oliver syndrome, Bockenheimer disease, and reticular hemangioma syndrome, among other disorders with a similar cutaneous presentation.[2][4][5][6] Physiological cutis marmorata presents in a similar reticular symmetric pattern over the trunk and extremities, however, unlike CMTC. The vascular pattern disappears with local warming.[4][5] In Klippel-Trenaunay syndrome (KTS), port wine stains, venous varicosities, and soft-tissue hypertrophy, sometimes accompanied by internal hemangiomas, can be seen.[4] The absence of venectasia until age 1 year should aid in differentiating CMTC from KTS. Sturge-Weber syndrome can be characterized by facial port-wine stains, seizures, mental retardation, glaucoma, as well as cerebral malformations and tumors.[1] Adams-Oliver syndrome should be ruled out, as mottling consistent with CMTC can be seen along with cardiac malformations, limb defects, and aplasia cutis congenita.[1] Bodenheimer disease (diffuse phlebectasia) presents with diffuse, large, and painful venous ectasias, usually affecting 1 limb, in contrast to CMTC. This disorder typically has an onset in childhood and a gradual progression.[1] Reticular hemangioma syndrome presents with vascular anomalies and is distinguished by the coexistence of anogenital-urinary-sacral anomalies, intractable ulceration, and sometimes cardiac failure.[2] Additionally, Divry Van Boageart syndrome, homocystinuria, Down syndrome, Cornelia de Lange syndrome, and neonatal lupus erythematosus are disorders that can be associated with a physiological cutis marmorata and must also be considered in the differential diagnosis.[2][4]

Although skin lesions fade over time, the associated limb asymmetry persists. Other complications are those related to treatment, specifically the increased risk of scarring associated with laser therapy in patients with persistent CMTC.[9]

CMTC usually does not require the treatment of skin lesions. The overall prognosis is good, with more than half of patients experiencing improvement in skin lesions.[1][7] However, when a diagnosis of CMTC is established, it is imperative to rule out and, where appropriate, treat or manage any associated anomalies. Dermatology nurses and nurse practitioners can be involved in care, provide education, follow up, and arrange consultations when needed.