Irregular purplish blue markings on the limbs of a newborn

Diagnosis: Cutis marmorata telangiectatica congenita

The baby had cutis marmo-rata telangiectatica congenita (CMTC), a rare disorder characterized by discolored patches of skin (livedo reticularis). CMTC is caused by dilated superficial blood vessels (telangiectases), but severe cases can affect internal organs. Named for the Dutch pediatrician who first described it in 1922, CMTC is also known as van Lohuizen syndrome. It is usually observed at birth or in early infancy and affects females more often than males.

The markings change in appearance with exacerbating circumstances, such as vigorous movements, crying, and the cold. More commonly seen on the trunk and the legs, the markings can be present anywhere on the body. The lesions are described by some as marbled, hence the Latin term cutis marmorata. Others have described the lesions as stained glasslike or resembling a fishnet. Depending on their location, the markings often lead to evaluation for other abnormalities. For example, CMTC on the face raises the patient’s risk of glaucoma.

Additional differential diagnoses include Raynaud disease and other vascular disorders, such as port-wine stains and hemangioma. With rarer cases of CMTC, patients also suffer from arterial stenosis, dental issues, and developmental delays. The presence of other abnormalities determines the workup that is needed.

The exact cause of CMTC is unknown. Some researchers believe there is a genetic component, although multiple cases within a family are extremely rare. Among the proposed etiologies are environmental factors, autosomal dominant inheritance with low or variable penetrance, and a multifactorial cause. Some researchers have suggested that CMTC might be the result of Happle’s lethal gene hypothesis, as are Klippel-Trenaunay and Sturge-Weber syndromes.

The diagnosis is established on clinical grounds. The initial diagnosis is made by an experienced clinician after close examination and observation of the skin, particularly under exacerbating circumstances. Diagnostic tests are not needed for confirmation and therefore are rarely ordered, unless other abnormalities are suspected. The ease with which CMTC can be misdiagnosed may be the reason for the limited number of reported cases worldwide. Histopathologic examination of biopsy specimens may show an increase in the number and the size of capillaries and veins but is not necessary to confirm the diagnosis.

By the time they are 1 year old, 50% of patients show improvement, as evidenced by fading of the markings that results from skin maturation. Although the fading will slow, some patients will continue to demonstrate improvement up to age 3 years. A small percentage of patients may have residual effects, such as atrophy. Even in these situations, no treatment is indicated. Because there is a possibility of other abnormalities, close follow-up is indicated for at least the first three years of life to determine whether consultation with a pediatric specialist is indicated.

In this case, the infant has been seen by a pediatric dermatologist and is being monitored every six months. Thus far, her development has been age-appropriate, and she is meeting all milestones. Fading of her lesions has been minimal. The pediatric dermatologist has suggested the possible use of laser treatments later in life to decrease lesional prominence, especially on the legs, but no decision has been made.

Ms. Smith works at a private practice in Piscataway, New Jersey.

From the November 01, 2009 Issue of Clinical Advisor