Few extracutaneous anomalies in localized cutis marmorata telangiectatica congenita

Key takeaways:

• Extracutaneous manifestations were only found in 34.4% of patients with localized CMTC and commonly included asymmetry of the affected limbs.
• Generalized CMTC was associated with Adams-Oliver syndrome.

Localized manifestations of cutis marmorata telangiectatica congenita were rarely associated with extracutaneous anomalies in patients, according to a study.

Cutis marmorata telangiectatica congenita (CMTC) is characterized by rare, congenital macules or plaques that appear in reticulated, well demarcated patterns and are dark blue, red-purple or violaceous in color.

“The nosologic ambiguity of the term CMTC and the uncertainty about the risk of associated abnormalities hinders the appropriate workup of patients with CMTC and prognostic counseling for families,” Camila Downey, MD, of the department of dermatology at the Hospital de la Santa Creu i Sant Pau in Barcelona, Spain, and colleagues wrote.

The researchers performed a literature and retrospective review to more precisely define CMTC and evaluate the risks for associated anomalies.

After analyzing data from 78 pediatric patients with CMTC, they determined that 17 of the patients had generalized CMTC, which means the trunk, extremities and head of a patient were affected, whereas the remainder had localized CMTC.

Results showed that the risk for extracutaneous anomalies among patients with localized CTMC was very low, with 71% of the associations dermatologic, including 41 patients with atrophy, 10 with ulceration and a single patient with erosion.

Extracutaneous manifestations were only found in 21 patients and mainly involved the affected limb. The most common extracutaneous manifestation, which occurred in 15 patients, was an asymmetry of the affected extremities, usually making them under-grown or underdeveloped.

As a result, the authors recommend that physicians check their patients with localized CMTC for limb length discrepancies. If the difference between the limbs is less than 2 cm, physicians should perform serial clinical leg measurements with standing leg-length radiographs at age 10 years for girls and age 12 years for boys. If a discrepancy is detected, the authors recommend that physicians refer the patient to orthopedics.

Additionally, any patients with vascular birthmarks that affect the face should undergo ophthalmologic evaluations.

Fifteen of the 17 patients with generalized CMTC were also diagnosed with Adams-Oliver syndrome (AOS), “an extremely rare disease characterized by aplasia cutis, terminal transverse limb defects and internal anomalies such as congenital heart defects,” the researchers wrote.

Nevertheless, visceral anomalies were quite rare among those with CMTC, with only three of the 78 patients presenting cardiopulmonary associations and only one requiring active management.

“The very low frequency of cardiopulmonary and urologic associations reported in localized CMTC does not suggest a strong association that would justify routine evaluation in localized cases,” Downey and colleagues concluded.