Cutis Marmorata Telangiectatica Congenita (CMTC)

▶Also known as congenital generalized phlebectasia.

▶Distinguished from cutis marmorata by failure of lesions to resolve with rewarming.

▶Etiology unknown.

▶Presents at or shortly after birth.

▶Reticulated mottling involving one or several limbs (Figures 56.1 and 56.2).

▶Occasional truncal or facial involvement.

▶May have associated skin atrophy (Figure 56.3), occasional deep purple color, or ulceration.

▶Rewarming fails to lead to resolution.

▶Ipsilateral limb hypoplasia common (Figure 56.4), usually of no functional significance; limb length discrepancy or limb hyperplasia far less common.

▶Less common associations include port-wine stain and ophthalmologic or neurologic manifestations.

▶Rare association of macrocephaly, craniofacial and skeletal anomalies, and developmental delay termed macrocephaly-capillary malformations; lesions may appear similar to those of cutis marmorata telangiectatica congenita (CMTC) but actually represent reticulate port-wine stains.

▶Adams-Oliver syndrome characterized by CMTC in association with transverse limb anomalies and scalp aplasia cutis.

Figure 56.1. Cutis Marmorata Telangiectatica Congenita. Reticulated Mottling of the Lower Extremity.

Figure 56.2. Cutis Marmorata Telangiectatica Congenita. Mottling of the Lower Extremity Was Present in This Infant, with Some Areas Showing More Accentuation.

Figure 56.3. Extensive Involvement of the Buttock and Lower Extremity with Cutis Marmorata Telangiectatica Congenita, with Some Subtle Skin Atrophy Noted in Several of the Involved Areas.

Figure 56.4. Cutis Marmorata Telangiectatica Congenita Affecting the Left Lower Extremity. In Addition to Deep Purple Mottling, There is Hemiatrophy. Reproduced with Permission. Leung Akc, Lam Jm, Leong Kf. Cutis Marmorata Telangiectatica Congenita Associated with Hemiatrophy. Case Rep Pediatr. 2020:88138909.

Look-alikes

Disorder	Differentiating Features
Cutis marmorata	Disappears with rewarming. Symmetrically distributed (not limited to one extremity). Resolves rapidly over first months to 1 year after birth.
Reticulated port-wine stain	Persists indefinitely. Less mottled in appearance. When more extensive, may be associated with macrocephaly and other malformations, overgrowth, or developmental delay.
Klippel-Trénaunay syndrome	Associated venous varicosities. Limb overgrowth, instead of hypoplasia. Port-wine stains present. Concomitant lymphedema may be present.
Persistent cutis marmorata	Associated condition usually present (eg, Down syndrome, homocystinuria, Cornelia de Lange syndrome). Widespread skin involvement.
Livedo reticularis	Extremely rare in infants. Associated condition usually present (eg, hematologic disorder, coagulopathy, paraproteinemia, autoimmune disease).

▶Clinical examination usually sufficient.

▶Skin biopsy (rarely performed) reveals dilated dermal capillaries and veins.

▶Usually unnecessary.

▶Lesions fade over several years.

▶Circumferential limb hypoplasia requires no therapy.

▶Limb length discrepancy extremely rare; if present, refer to orthopedic surgeon or physiatrist.

▶The lesions of CMTC generally fade over time with no permanent sequelae.

▶Consider referral to a pediatric dermatologist for patients in whom the diagnosis is in question.

▶Consider referral to a pediatric ophthalmologist for patients with extensive or facial involvement; reported rare associations in this setting include glaucoma, retinal detachment, and retinal pigmentation.

▶Consider referral to a pediatric neurologist for patients with neurodevelopmental symptoms or concerns.

▶Consider referral to a pediatric orthopedist or physiatrist if leg length discrepancy is noted.

▶Cincinnati Children’s Hospital Medical Center: Patient information.

https://www.cincinnatichildrens.org/health/c/cmtc

▶National Organization for Rare Disorders: Cutis marmorata telangiectatica congenita.

https://rarediseases.org/rare-diseases/cutis-marmorata-telangiectatica-congenita

▶WebMD: Information for families is contained in Skin Problems and Treatments.

https://www.webmd.com/skin-problems-and-treatments/cutis-marmorata-telangiectatica-congenita

section name header

Introduction/Etiology/Epidemiology ⬇

Signs and Symptoms ⬆ ⬇

How to Make the Diagnosis ⬆ ⬇

Treatment ⬆ ⬇

Treating Associated Conditions ⬆ ⬇

Prognosis ⬆ ⬇

When to Worry or Refer ⬆ ⬇

Resources for Families ⬆