What is a CMTC diagnosis?
Description of CMTC
Cutis: the true skin, consisting of the dermis and the epidermis.
Marmorata: refers to conditions presenting with a marbled appearance.
Telangiectatica/Telangiectasis: chronic dilatation of the capillaries and other small blood vessels.
Congenita: of or pertaining to a condition present at birth.
Cutis marmorata telangiectatica congenita (CMTC) is a rare condition that mainly affects the blood vessels of the skin, and is visible at birth or soon after.
The marble-like or fishnet-like pattern on the surface of the skin is called mottling.
This purplish pattern is similar to the appearance of an infant when he/she is cold. However, CMTC patients have the marbling pattern more severely, is always present, and can fade as the child ages.
Classic CMTC may or may not involve atrophy of a limb. Overgrowth generally involves an overlapping diagnosis.
The pathogenesis of cutis marmorata telangiectatica congenita (CMTC) remains unclear. Its cause may be multifactorial. Most cases occur sporadically, although rare cases occur in families.
The frequency of this disorder is not known. It may be more common than reported, because it is usually a benign disorder, and most cases that are reported have an associated malformation. In 1970, Petrozzi et al reported the first case of cutis marmorata telangiectatica congenita in the United States. Since then, many cases associated with a wide variety of abnormalities have been described.
Cutis marmorata telangiectatica congenita is a rarely reported skin disorder. However, after its first description by Van Lohuizen in 1922, more than 100 cases have been published worldwide.
Found equally in males and females
- Legs and trunk in 75%
- Arms in 33%
- Face in 15%
- Skin atrophy and/or ulcerations common
Lesions improve in over 50%
Associated anomalies in over 50%
- If no other features = isolated CMTC
- If limb undergrowth only = Classic CMTC
- If other birth defects, etc. = CMTC Plus
Covers 3% to 90% of body
What to do?
Rule out other blood vessel problems. It is important to consider where the markings are located, and perform associated assessments.
- Vascular anomalies or dermatology clinic
- Head imaging – anomalies of the brain
- Echo of heart
- Abdominal ultrasound – assess organs
- Ophthalmology – possible glaucoma
- Orthopedics – asymmetry
A review of the literature reveals controversy regarding the possibility of a sex-related predominance in cutis marmorata telangiectatica congenita. Several series reveal that the disorder affects more female patients than male patients. However, the numbers are small, and the differences are not statistically significant. Reports suggest that male patients may tend to have localized disease.
Cutis marmorata telangiectatica congenita is regarded to be a congenital disorder because the lesions are generally present at birth or shortly thereafter in most cases.
Other possible conditions associated with CMTC includes:
Overgrowth (hypertrophy) or undergrowth (hypotrophy or atrophy) of extremities and/or skin
Problems with teeth
Glaucoma (increased pressure of the fluid within the eye)
Macrocephaly (enlarged head size)
Most commonly mistaken for CMTC variants are Klippel-Trenaunay syndrome, Cowden’s disease and M-CM. Rarely, Adams-Oliver and Proteus(-like) syndromes underlie the vascular abnormalities.
Conditions with CMTC:
Associated Health Concerns:
Central nervous system