Cutis marmorata telangiectatica congenita
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Cutis marmorata
telangiectatica congenita or CMTC is a rare congenital vascular disorder that usually manifests in affecting the blood vessels of the skin. The condition was first recognised 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 and Van Lohuizen syndrome.
It should not be confused with the more general term "cutis marmorata
", which refers to livedo reticularis caused by cold.
The pathophysiology
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.
Usually observed at birth or shortly thereafter in 94% of patients, in other reports, patients did not develop skin lesions until 3 months or even 2 years after birth. Females are typically affected more often than males (64%).
Cutaneous lesions described in patients with CMTC include nevus flammeus, hemangioma
, nevus anemicus
, café-au-lait spots, melanocytic nevus
, aplasia cutis 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
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
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 period. Recently, Melani et al. reported the case of a 20-year-old man with CMTC in association with chronic urticaria
.
• Body asymmetry (extremities; macrocephaly
)
• Glaucoma
• Cutaneous atrophy
• Neurological anomalies
• Vascular anomalies (nevus flammeus /Sturge-Weber/Klippel-Trénauna Adams Oliver syndrome)
• Psychomotor and/or mental retardation
• Chronic ulceration that can complicate long-term CMTC
• Chronic urticaria.
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
and gentamicin
administered for 10 days has been prescribed. In one study, the wound grew Escherichia coli
while blood cultures were negative.
One study reported an improvement in lesions in 46% of patients within 3 years. If CMTC persists into adulthood, it can result in complaints due to paresthesia
, 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.
Cutis marmorata
When a newborn infant is exposed to low environmental temperatures, an evanescent, lacy, reticulated red and/or blue cutaneous vascular pattern appears over most of the body surface...
telangiectatica congenita or CMTC is a rare congenital vascular disorder that usually manifests in affecting the blood vessels of the skin. The condition was first recognised 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 and Van Lohuizen syndrome.
It should not be confused with the more general term "cutis marmorata
Cutis marmorata
When a newborn infant is exposed to low environmental temperatures, an evanescent, lacy, reticulated red and/or blue cutaneous vascular pattern appears over most of the body surface...
", which refers to livedo reticularis caused by cold.
Etiology & causes
Fewer than 200 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
Pathophysiology is the study of the changes of normal mechanical, physical, and biochemical functions, either caused by a disease, or resulting from an abnormal syndrome...
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.
Symptoms & Diagnosis
CMTC is an uncommon, sporadic congenital vascular malformation characterized by a generalized or localized reticulated cutaneous vascular network.Usually observed at birth or shortly thereafter in 94% of patients, in other reports, patients did not develop skin lesions until 3 months or even 2 years after birth. Females are typically affected more often than males (64%).
Cutaneous lesions described in patients with CMTC include nevus flammeus, hemangioma
Hemangioma
A hemangioma of infancy is a benign self-involuting tumor of endothelial cells, the cells that line blood vessels. It usually appears during the first weeks of life and sometimes resolves by age 10. In more severe case hemangioma may have permanency, if not treated by a physician...
, nevus anemicus
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...
, café-au-lait spots, melanocytic nevus
Melanocytic nevus
A melanocytic nevus is a type of lesion that contains nevus cells .Some sources equate the term mole with "melanocytic nevus". Other sources reserve the term "mole" for other purposes....
, aplasia cutis 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
Erythema is redness of the skin, caused by hyperemia of the capillaries in the lower layers of the skin. It occurs with any skin injury, infection, or inflammation...
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
Hypertrophy is the increase in the volume of an organ or tissue due to the enlargement of its component cells. It should be distinguished from hyperplasia, in which the cells remain approximately the same size but increase in number...
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 period. Recently, Melani et al. reported the case of a 20-year-old man with CMTC in association with chronic urticaria
Urticaria
Urticaria is a kind of skin rash notable for pale red, raised, itchy bumps. Hives is frequently caused by allergic reactions; however, there are many non-allergic causes...
.
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:| Diseases | Characteristics |
|---|---|
| Diffuse phlebectasia | rare progressive harmartomatous malformation involving the deeper veins |
| Livedo reticularis associated with collagen-vascular disease | lace pattern of cyanotic skin discoloration secondary to dilation of subpapillary veinous plexi and occlusion of small vessels feeding the upper cutis |
| Neonatal lupus erythematosus | well-demarcated erythematous, mild-scaling plaque that is often annular and appears predominantly on the scalp, neck, or face |
| Nevus anemicus | congenital single patch manifested by skin pallor, most commonly seen on the trunk |
| Nevus flammeus (port-wine stain) | pale pink to red-purple, usually unilateral macules of the face or extremities |
| Physiologic cutis marmorata | reticulated mottling appearance of the skin that physiologically responds to cold environments |
| Primary antiphospholipid syndrome (APS) | increased tendency to form venous and/or arterial thromboses, often accompanied by thrombocytopenia in the presence of the antiphospholipid antibodies |
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
Macrocephaly , occurs when the head is abnormally large; this includes the scalp, the cranial bone, and the contents of the cranium.-Causes:...
)
• Glaucoma
Glaucoma
Glaucoma is an eye disorder in which the optic nerve suffers damage, permanently damaging vision in the affected eye and progressing to complete blindness if untreated. It is often, but not always, associated with increased pressure of the fluid in the eye...
• Cutaneous atrophy
• Neurological anomalies
• Vascular anomalies (nevus flammeus /Sturge-Weber/Klippel-Trénauna Adams Oliver syndrome)
• Psychomotor and/or mental retardation
Mental retardation
Mental retardation is a generalized disorder appearing before adulthood, characterized by significantly impaired cognitive functioning and deficits in two or more adaptive behaviors...
• Chronic ulceration that can complicate long-term CMTC
• Chronic urticaria.
Treatment & complications
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
Oxacillin sodium is a narrow spectrum beta-lactam antibiotic of the penicillin class.It was developed by Beecham.-Uses:...
and gentamicin
Gentamicin
Gentamicin is an aminoglycoside antibiotic, used to treat many types of bacterial infections, particularly those caused by Gram-negative organisms. However, gentamicin is not used for Neisseria gonorrhoeae, Neisseria meningitidis or Legionella pneumophila...
administered for 10 days has been prescribed. In one study, the wound grew Escherichia coli
Escherichia coli
Escherichia coli is a Gram-negative, rod-shaped bacterium that is commonly found in the lower intestine of warm-blooded organisms . Most E. coli strains are harmless, but some serotypes can cause serious food poisoning in humans, and are occasionally responsible for product recalls...
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 3 years. If CMTC persists into adulthood, it can result in complaints due to paresthesia
Paresthesia
Paresthesia , spelled "paraesthesia" in British English, is a sensation of tingling, burning, pricking, or numbness of a person's skin with no apparent long-term physical effect. It is more generally known as the feeling of "pins and needles" or of a limb "falling asleep"...
, 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.