Cutis marmorata telangiectatica congenita (CMTC) is a rare congenital vascular disorder that usually manifests in affecting the blood vessels of the skin. The condition was first recognized and described in 1922 by
Cato van Lohuizen, a Dutch pediatrician whose name was later adopted in the other common name used to describe the condition – Van Lohuizen syndrome. CMTC is also used synonymously with congenital generalized phlebectasia, nevus vascularis reticularis, congenital phlebectasia, livedo telangiectatica, congenital
livedo reticularis
Livedo reticularis is a common skin finding consisting of a mottled reticulated vascular pattern that appears as a lace-like purplish discoloration of the skin. The discoloration is caused by reduction in blood flow (ischemia) through the arter ...
and Van Lohuizen syndrome.
It should not be confused with the more general term "
cutis marmorata
Cutis marmorata (from Latin ''marmor'', "marble") is a benign skin condition which, if persistent, occurs in Cornelia de Lange syndrome, trisomy 13 and trisomy 18 syndromes. When a newborn infant is exposed to low environmental temperatures, an ...
", which refers to
livedo reticularis
Livedo reticularis is a common skin finding consisting of a mottled reticulated vascular pattern that appears as a lace-like purplish discoloration of the skin. The discoloration is caused by reduction in blood flow (ischemia) through the arter ...
caused by cold.
For a full and up-to-date description visit the CMTC webpages of the global non-profit patient organisation for people with CMTC and other vascular malformation CMTC-OVM: www.cmtc.nl/en
Signs and symptoms
People with visible marks generally feel fine (physically) and can act normally, but when it is mentioned, they may become withdrawn and self-conscious. Some children may have low self-esteem due to the condition. CMTC is an uncommon, sporadic congenital vascular malformation characterized by a generalized or localized reticulated cutaneous vascular network.
Cutaneous lesions described in patients with CMTC include
nevus flammeus
Nevus () is a nonspecific medical terminology, medical term for a visible, circumscribed, chronic (medicine), chronic lesion of the skin or mucosa. The term originates from , which is Latin for "birthmark"; however, a nevus can be either cong ...
,
hemangioma
A hemangioma or haemangioma is a usually benign vascular tumor derived from blood vessel cell types. The most common form, seen in infants, is an infantile hemangioma, known colloquially as a "strawberry mark", most commonly presenting on the sk ...
,
nevus anemicus
Nevus anemicus is a congenital disorder characterized by macules of varying size and shape that are paler than the surrounding skin and cannot be made red by trauma, cold, or heat.James, William; Berger, Timothy; Elston, Dirk (2005). ''Andrews' Dis ...
,
café-au-lait spots,
melanocytic nevus
A melanocytic nevus (also known as nevocytic nevus, nevus-cell nevus, and commonly as a mole) is usually a Malignancy, noncancerous condition of pigment-producing Human skin, skin cells. It is a type of melanocytic tumor that contains nevus cell ...
,
aplasia cutis
Aplasia cutis congenita is a rare disorder characterized by congenital absence of skin. Ilona J. Frieden classified ACC in 1986 into 9 groups on the basis of location of the lesions and associated congenital anomalies.Moss C, Shahidulla H. Naevi a ...
and
acral cyanosis.
It has a marbled bluish to deep-purple appearance. The dark skin lesions often show a palpable loss of dermal substance. The reticulated mottling frequently appears more prominent in a cold environment (physiologic cutis marmorata), but tends not to disappear with warming. Hence, the
erythema
Erythema (, ) is redness of the skin or mucous membranes, caused by hyperemia (increased blood flow) in superficial capillaries. It occurs with any skin injury, infection, or inflammation. Examples of erythema not associated with pathology inc ...
may be worsened by cooling, physical activity, or crying. CMTC frequently involves the extremities, with the lower extremities involved most commonly, followed by the upper extremities, and then the trunk and face. The lower extremities often show atrophy and seldom show
hypertrophy
Hypertrophy is the increase in the volume of an organ or tissue due to the enlargement of its component cells. It is distinguished from hyperplasia, in which the cells remain approximately the same size but increase in number. Although hypertro ...
resulting in limb circumference discrepancy.
When located on the trunk, the lesions of CMTC tend to show mosaic distribution in streaks with a sharp midline demarcation seen across the abdomen.
The lesions are primarily localized, but can be segmental or generalized, often unilateral in appearance.
Diffuse involvement of the skin is usually not observed.
Although its course is variable, the majority of lesions in mild cases fade by adolescence. Ulceration and secondary infection are complications in severe cases and can be fatal if present in the
neonatal
In common terminology, a baby is the very young offspring of adult human beings, while infant (from the Latin word ''infans'', meaning 'baby' or 'child') is a formal or specialised synonym. The terms may also be used to refer to Juvenile (orga ...
period.
Causes
Fewer than 100 cases of CMTC have been published worldwide. Petrozzi reported the first case of CMTC in the United States in 1970. CMTC is believed to be more common than suspected, as studies have shown that milder forms of the disease are not being recognized as CMTC.
The
pathophysiology
Pathophysiology (or physiopathology) is a branch of study, at the intersection of pathology and physiology, concerning disordered physiological processes that cause, result from, or are otherwise associated with a disease or injury. Pathology is ...
is still unclear, with most cases occurring sporadically, although rare cases were reported in families. Studies indicated the primary involvement of capillaries, venules and veins, and possibly also that of arterioles and lymphatics.
Hypotheses that have been proposed include: environmental/external factors;
peripheral neural dysfunction; failure of the development of mesodermic vessels in an early embryonic stage; autosomal dominant inheritance with incomplete penetrance and, finally, the theory of Happle.
[ ]
Diagnosis
Differential diagnosis
During the first few weeks after birth, when the lesions are not very reticulated, CMTC may look very similar to vascular lesions such as port-wine stains. However, during follow-up, CMTC lesions become characteristic in their appearance. They must be differentiated from other causes of persistent reticulated vascular lesions, such as those in the following table:
Histology
Some patients have a few or no histopathologic abnormalities. Histological examination of a biopsy may show an increase in the number and size of capillaries and veins (rarely lymphatics), dilated capillaries located in the deeper dermis, and hyperplasia and swollen endothelial cells with occasional dilated veins and venous lakes.
Associated abnormalities
Associated abnormalities include the following:
* Body asymmetry (extremities;
macrocephaly
Macrocephaly is a condition in which circumference of the human head is abnormally large. It may be pathological or harmless, and can be a Heredity, familial genetic characteristic. People diagnosed with macrocephaly will receive further medical ...
)
*
Glaucoma
Glaucoma is a group of eye diseases that can lead to damage of the optic nerve. The optic nerve transmits visual information from the eye to the brain. Glaucoma may cause vision loss if left untreated. It has been called the "silent thief of ...
* Cutaneous atrophy
* Neurological anomalies
* Vascular anomalies (
nevus flammeus
Nevus () is a nonspecific medical terminology, medical term for a visible, circumscribed, chronic (medicine), chronic lesion of the skin or mucosa. The term originates from , which is Latin for "birthmark"; however, a nevus can be either cong ...
,
Sturge-Weber syndrome,
Klippel-Trénaunay syndrome,
Adams-Oliver syndrome)
* Psychomotor and/or
mental retardation
Intellectual disability (ID), also known as general learning disability (in the United Kingdom), and formerly mental retardation (in the United States), Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010).Archive is a generalized neurodevelopmental ...
* Chronic
ulceration
An ulcer is a discontinuity or break in a bodily membrane that impedes normal function of the affected Organ (biology), organ. According to Robbins's pathology, "ulcer is the breach of the continuity of skin, epithelium or mucous membrane caus ...
that can complicate long-term CMTC
* Chronic
urticaria
Hives, also known as urticaria, is a kind of skin rash with red or flesh-colored, raised, itchy bumps. Hives may burn or sting. The patches of rash may appear on different body parts, with variable duration from minutes to days, and typically ...
Treatment
In general, there is no treatment available for CMTC, although associated abnormalities can be treated. In the case of limb asymmetry, when no functional problems are noted, treatment is not warranted, except for an elevation device for the shorter leg.
Laser therapy has not been successful in the treatment of CMTC, possibly due to the presence of many large and deep capillaries and dilated veins. Pulsed-dye laser and long-pulsed-dye laser have not yet been evaluated in CMTC, but neither argon laser therapy nor YAG laser therapy has been helpful.
When ulcers develop secondary to the congenital disease, antibiotic treatment such as
oxacillin
Oxacillin (trade name Bactocill) is a narrow-spectrum second-generation beta-lactam antibiotic of the penicillin class developed by Beecham.
It was patented in 1960 and approved for medical use in 1962.
Medical uses
Oxacillin is a penicill ...
and
gentamicin
Gentamicin is an aminoglycoside antibiotic used to treat several types of bacterial infections. This may include bone infections, endocarditis, pelvic inflammatory disease, meningitis, pneumonia, urinary tract infections, and sepsis amo ...
administered for 10 days has been prescribed. In one study, the wound grew ''
Escherichia coli
''Escherichia coli'' ( )Wells, J. C. (2000) Longman Pronunciation Dictionary. Harlow ngland Pearson Education Ltd. is a gram-negative, facultative anaerobic, rod-shaped, coliform bacterium of the genus '' Escherichia'' that is commonly fo ...
'' while blood cultures were negative.
Prognosis
The prognosis is favorable in most patients with an isolated cutaneous abnormality. In the majority of cases, both the vivid red marking and the difference in circumference of the extremities regress spontaneously during the first year of life. It is theorized that this may be due to the normal maturation process, with thickening of the epidermis and dermis. Improvements for some patients can continue for up to 10 years, while in other cases, the marbled skin may persist for the patient's lifetime.
One study reported an improvement in lesions in 46% of patients within three years.
If CMTC persists into adulthood, it can result in complaints due to
paresthesia
Paresthesia is a sensation of the skin that may feel like numbness (''hypoesthesia''), tingling, pricking, chilling, or burning. It can be temporary or Chronic condition, chronic and has many possible underlying causes. Paresthesia is usually p ...
, increased sensitivity to cold and pain, and the formation of ulcers.
Few reports included long-term follow up of CMTC into adolescence and adulthood. While about 50% of patients seem to show definite improvement in the reticular vascular pattern,
the exact incidence and cause of persistent cases are unknown.
Epidemiology
CMTC is observed at birth or shortly thereafter in 94% of patients.
In other reports, however, patients did not develop skin lesions until three months or even two years after birth. Females are typically affected more often than males (64%).
Eponym
It is named for Dr.
Cato van Lohuizen.
References
External links
{{Medical resources
, DiseasesDB = 33782
, ICD10 = Q82.8
, ICD9 =
, ICDO =
, OMIM = 219250
, MedlinePlus = 001478
, eMedicineSubj = derm
, eMedicineTopic = 793
, MeshID =
, Orphanet = 1556
Dermal and subcutaneous growths
Rare diseases