Cutis marmorata telangiectatica congenita (CMTC)
Cutis marmorata telangiectatica congenita (CMTC) is a congenital vascular malformation characterized by distinctive red to purple net-like patches on the skin, primarily affecting the trunk, extremities, or face. These patches are typically present at birth and do not fade with warmth, differentiating CMTC from other conditions like cutis marmorata. The underlying causes and prevalence of CMTC are still not well understood. In addition to the skin manifestations, infants with CMTC may experience other issues, including asymmetry of body parts, hemangiomas, varicose veins, and various vascular anomalies. Some affected individuals may face more serious complications, such as glaucoma, neurological issues, and skeletal abnormalities. While treatment is often unnecessary as many skin lesions improve with age, some cases may require medical intervention for associated conditions. Management strategies may include laser therapy, medications, or surgeries depending on the specific abnormalities present. Understanding CMTC is essential for early recognition and appropriate care in affected individuals.
Cutis marmorata telangiectatica congenita (CMTC)
Disease/Disorder
Also known as: Van Lohuizen syndrome, congenital generalized phlebectasia, nevus vascularis reticularis, congenital phlebectasia, livedo telangiectatica, congenital livedo reticularis
Anatomy or system affected: Arms, blood vessels, brain, circulatory system, eyes, legs, nervous system, skin
Definition: Congenital abnormalities of the small blood vessels in the skin that are also usually associated with other congenital abnormalities.
Key terms:
capillaries: smallest of the body’s blood vessels
hemangiomas: small, benign skin tumors that result from overgrowth of the endothelial cells that line the inside of blood vessels
nevus flammeus: a congenital malformation of that causes a pink, red or purplish spot on the skin; also known as a birthmark, port wine stain, or stork bite
phlebectasia: dilation of veins
telangiectasia: small, widened blood vessels in the skin
Causes and Symptoms
Cutis marmorata telangiectatica congenita (CMTC) is a congenital, sporadic malformation of blood vessels characterized by red to purple net-like patches on the trunk, extremities, or face. Generally, these patches are present at birth or appear soon thereafter. These net-like patches do not disappear with warming, which distinguishes CMTC from cutis marmorata, in which the patches appear in a cold environment and disappear with warming. The cause and incidence of CMTC remain unknown.
Babies with CMTC also tend to have other abnormalities: 25–43 percent CMTC babies show body asymmetry in which one limb or one side of the face is larger than the other, while 15–37 percent have red to purple skin splotches that result from abnormal collections of capillaries (nevus flammeus) or small tumor-like outgrowths of blood vessels (hemangiomas). Other CMTC babies show dilated, varicose veins (phlebectasia), and almost 20 percent have red, flat marks that result from widened small blood vessels in the skin (telangiectasia). Approximately 6 percent have atrophy of the skin, particularly in the lower extremities, which results in skin ulcers or missing patches of skin (aplasia cutis). Other rarer conditions associated with CMTM include glaucoma and retinal detachment, fusion of the digits (syndactyly), cleft palate, hip malformation, clubfoot, underdevelopment of the kidneys (renal hypoplasia), and neurological abnormalities.
Treatment and Therapy
Usually treatment of CMTC is unnecessary, since the skin lesions tend to improve with time. The net-like patches and skin ulcers tend to disappear within the first 3–5 years of life.
More permanent abnormalities may require treatment. Glaucoma and retinal detachment require ophthalmological intervention. Pulse-dye laser treatment effectively treats retinal detachments. Medicines that reduce intraocular pressure and eye surgeries that increase drainage in the eye (trabeculectomy) and subsequently reduce intraocular pressure can mitigate glaucoma. Skeletal abnormalities sometimes self-correct with time, but the more severe and persistent problems may require orthopedic surgeries for correction. Neurological abnormalities may require neurology consultations.
Bibliography
Calonje, J. Eduardo, Thomas Brenn, Alexander J. Lazar, and Phillip H. McKee. McKee's Pathology of the Skin. 4th ed. Philadelphia: Saunders, 2011.
“Cutis Marmorata Telangiectatica Congenita.” Office of Rare Diseases Research. NIH Natl. Cener for Advancing Translational Sciences, 25 May 2011. Web. 19 Mar. 2015.
Hook, Kristen P. “Cutaneous Vascular Anomalies in the Neonatal Period.” Seminars in Perinatology 37, no. 1 (2013): 40–48.
Levy, Rebecca, and Joseph M. Lam. “Cutis Marmorata Telangiectatica Congenita: A Mimicker of a Common Disorder.” Canadian Medical Association Journal 183, no. 4 (March 2011): E249-E251.
Van Steensel, Maurice A. M. “Cutis Marmorata Telangiectatica Congenita.” NORD. Natl. Org. for Rare Disorders, 15 Mar. 2012. Web. 19 Mar. 2015.