Patient Presentation
A 9-month-old female infant of Hispanic origin was referred to the clinic for evaluation of skin lesions persisting since birth. The girl was born full term by normal spontaneous vaginal delivery to a healthy G1P1 mother following an uneventful pregnancy and prenatal history. There was no family history of inherited diseases or birthmarks. Birth weight and height were at the fiftieth percentile. At birth, the physical examination was remarkable only for reticulated blue-violet vascular markings on the left leg. At 3 months of age, a marked improvement was seen in the skin lesions, but by 9 months of age, the lesions remained unchanged, and leg asymmetry — with a left leg shorter than the right — also became evident. Physical examination revealed multiple reticulated, blue-violet, centrally atrophic skin lesions distributed mainly on the left-lower extremity. Lesions were noted to begin at the level of the umbilicus and included the patient's left labia majora. The patient’s family history was unremarkable, and the remainder of the examination, including neurological and ophthalmologic findings, was normal.
What’s Your Diagnosis?
Diagnosis: Cutis Marmorata Telangiectatica Congenita (CMTC)
First described in 1922 by Cato Van Lohuizen,1 a Dutch pediatrician, fewer than 200 cases of CMTC have been published worldwide. Petrozzi reported the first case of CMTC in the United States in 1970.2 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.3
CLINICAL FEATURES
CMTC is an uncommon, sporadic congenital vascular malformation characterized by a generalized or localized reticulated cutaneous vascular network. CMTC is frequently used synonymously with congenital generalized phlebectasia, nevus vascularis reticularis, congenital phlebectasia, livedo telangiectatica, congenital livedo reticularis and van Lohuizen syndrome.4
Usually observed at birth or shortly thereafter in 94% of patients,5 in other reports, patients did not develop skin lesions until 3 months or even 2 years after birth.6,7 Females are typically affected more often than males (64%).8
Cutaneous lesions described in patients with CMTC include nevus flammeus, hemangioma, nevus anemicus, café-au-lait spots, melanocytic nevus, aplasia cutis and acral cyanosis.3
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.3 The lesions are primarily localized, but can be segmental or generalized, often unilateral in appearance.3 Diffuse involvement of the skin is usually not observed.
Although its course is variable, the majority of lesions fade by adolescence. Ulceration and secondary infection are complications in severe cases and can be fatal if present in the neonatal period.9 Recently, Melani et al10 reported the case of a 20-year-old man with CMTC in association with chronic urticaria.
PATHOGENESIS
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;5 peripheral neural dysfunction;11 failure of the development of mesodermic vessels in an early embryonic stage; autosomal dominant inheritance with incomplete penetrance and, finally, the theory of Happle.11
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 Table 1.
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)
• Glaucoma
• Cutaneous atrophy
• Neurologic 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.10
TREATMENTS
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.12
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.9
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.5 If CMTC persists into adulthood, it can result in complaints due to paresthesia, increased sensitivity to cold and pain, and the formation of ulcers.9
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,12 the exact incidence and cause of persistent cases are unknown.
WHAT TO TELL THE PARENTS?
For many patients, CMTC is a benign condition, but a full physical examination by a pediatrician or dermatologist should always be performed. Clinically detectable abnormalities must be referred to a specialist.
In cases of a periocular vascular lesion, an ophthalmological examination should be performed to exclude glaucoma or other eye problems. Blindness is a possible risk, so it is advisable that all patients be examined.
Parents should be counseled that lesions may resolve or become less reticulated, or that they may remain unchanged; it seems that currently we are unaware of any predictive signs.
Patient Presentation
A 9-month-old female infant of Hispanic origin was referred to the clinic for evaluation of skin lesions persisting since birth. The girl was born full term by normal spontaneous vaginal delivery to a healthy G1P1 mother following an uneventful pregnancy and prenatal history. There was no family history of inherited diseases or birthmarks. Birth weight and height were at the fiftieth percentile. At birth, the physical examination was remarkable only for reticulated blue-violet vascular markings on the left leg. At 3 months of age, a marked improvement was seen in the skin lesions, but by 9 months of age, the lesions remained unchanged, and leg asymmetry — with a left leg shorter than the right — also became evident. Physical examination revealed multiple reticulated, blue-violet, centrally atrophic skin lesions distributed mainly on the left-lower extremity. Lesions were noted to begin at the level of the umbilicus and included the patient's left labia majora. The patient’s family history was unremarkable, and the remainder of the examination, including neurological and ophthalmologic findings, was normal.
What’s Your Diagnosis?
Diagnosis: Cutis Marmorata Telangiectatica Congenita (CMTC)
First described in 1922 by Cato Van Lohuizen,1 a Dutch pediatrician, fewer than 200 cases of CMTC have been published worldwide. Petrozzi reported the first case of CMTC in the United States in 1970.2 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.3
CLINICAL FEATURES
CMTC is an uncommon, sporadic congenital vascular malformation characterized by a generalized or localized reticulated cutaneous vascular network. CMTC is frequently used synonymously with congenital generalized phlebectasia, nevus vascularis reticularis, congenital phlebectasia, livedo telangiectatica, congenital livedo reticularis and van Lohuizen syndrome.4
Usually observed at birth or shortly thereafter in 94% of patients,5 in other reports, patients did not develop skin lesions until 3 months or even 2 years after birth.6,7 Females are typically affected more often than males (64%).8
Cutaneous lesions described in patients with CMTC include nevus flammeus, hemangioma, nevus anemicus, café-au-lait spots, melanocytic nevus, aplasia cutis and acral cyanosis.3
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.3 The lesions are primarily localized, but can be segmental or generalized, often unilateral in appearance.3 Diffuse involvement of the skin is usually not observed.
Although its course is variable, the majority of lesions fade by adolescence. Ulceration and secondary infection are complications in severe cases and can be fatal if present in the neonatal period.9 Recently, Melani et al10 reported the case of a 20-year-old man with CMTC in association with chronic urticaria.
PATHOGENESIS
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;5 peripheral neural dysfunction;11 failure of the development of mesodermic vessels in an early embryonic stage; autosomal dominant inheritance with incomplete penetrance and, finally, the theory of Happle.11
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 Table 1.
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)
• Glaucoma
• Cutaneous atrophy
• Neurologic 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.10
TREATMENTS
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.12
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.9
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.5 If CMTC persists into adulthood, it can result in complaints due to paresthesia, increased sensitivity to cold and pain, and the formation of ulcers.9
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,12 the exact incidence and cause of persistent cases are unknown.
WHAT TO TELL THE PARENTS?
For many patients, CMTC is a benign condition, but a full physical examination by a pediatrician or dermatologist should always be performed. Clinically detectable abnormalities must be referred to a specialist.
In cases of a periocular vascular lesion, an ophthalmological examination should be performed to exclude glaucoma or other eye problems. Blindness is a possible risk, so it is advisable that all patients be examined.
Parents should be counseled that lesions may resolve or become less reticulated, or that they may remain unchanged; it seems that currently we are unaware of any predictive signs.
Patient Presentation
A 9-month-old female infant of Hispanic origin was referred to the clinic for evaluation of skin lesions persisting since birth. The girl was born full term by normal spontaneous vaginal delivery to a healthy G1P1 mother following an uneventful pregnancy and prenatal history. There was no family history of inherited diseases or birthmarks. Birth weight and height were at the fiftieth percentile. At birth, the physical examination was remarkable only for reticulated blue-violet vascular markings on the left leg. At 3 months of age, a marked improvement was seen in the skin lesions, but by 9 months of age, the lesions remained unchanged, and leg asymmetry — with a left leg shorter than the right — also became evident. Physical examination revealed multiple reticulated, blue-violet, centrally atrophic skin lesions distributed mainly on the left-lower extremity. Lesions were noted to begin at the level of the umbilicus and included the patient's left labia majora. The patient’s family history was unremarkable, and the remainder of the examination, including neurological and ophthalmologic findings, was normal.
What’s Your Diagnosis?
Diagnosis: Cutis Marmorata Telangiectatica Congenita (CMTC)
First described in 1922 by Cato Van Lohuizen,1 a Dutch pediatrician, fewer than 200 cases of CMTC have been published worldwide. Petrozzi reported the first case of CMTC in the United States in 1970.2 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.3
CLINICAL FEATURES
CMTC is an uncommon, sporadic congenital vascular malformation characterized by a generalized or localized reticulated cutaneous vascular network. CMTC is frequently used synonymously with congenital generalized phlebectasia, nevus vascularis reticularis, congenital phlebectasia, livedo telangiectatica, congenital livedo reticularis and van Lohuizen syndrome.4
Usually observed at birth or shortly thereafter in 94% of patients,5 in other reports, patients did not develop skin lesions until 3 months or even 2 years after birth.6,7 Females are typically affected more often than males (64%).8
Cutaneous lesions described in patients with CMTC include nevus flammeus, hemangioma, nevus anemicus, café-au-lait spots, melanocytic nevus, aplasia cutis and acral cyanosis.3
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.3 The lesions are primarily localized, but can be segmental or generalized, often unilateral in appearance.3 Diffuse involvement of the skin is usually not observed.
Although its course is variable, the majority of lesions fade by adolescence. Ulceration and secondary infection are complications in severe cases and can be fatal if present in the neonatal period.9 Recently, Melani et al10 reported the case of a 20-year-old man with CMTC in association with chronic urticaria.
PATHOGENESIS
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;5 peripheral neural dysfunction;11 failure of the development of mesodermic vessels in an early embryonic stage; autosomal dominant inheritance with incomplete penetrance and, finally, the theory of Happle.11
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 Table 1.
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)
• Glaucoma
• Cutaneous atrophy
• Neurologic 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.10
TREATMENTS
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.12
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.9
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.5 If CMTC persists into adulthood, it can result in complaints due to paresthesia, increased sensitivity to cold and pain, and the formation of ulcers.9
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,12 the exact incidence and cause of persistent cases are unknown.
WHAT TO TELL THE PARENTS?
For many patients, CMTC is a benign condition, but a full physical examination by a pediatrician or dermatologist should always be performed. Clinically detectable abnormalities must be referred to a specialist.
In cases of a periocular vascular lesion, an ophthalmological examination should be performed to exclude glaucoma or other eye problems. Blindness is a possible risk, so it is advisable that all patients be examined.
Parents should be counseled that lesions may resolve or become less reticulated, or that they may remain unchanged; it seems that currently we are unaware of any predictive signs.
