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Cutis Marmorata

Telangiectatica Congenita

Cutis marmorata telangiectatica congenita is a very rare congenital disorder that primarily affects the blood vessels and the overlying skin. On the skin, an abnormal dilation of blood vessels in the dermis is observed, leading to a blue-to-purple appearance, accompanied by phlebectasia, telangiectasia, and sometimes atrophy and ulceration of the skin. It is usually present at birth, and the diagnosis is made clinically, while treatment comprises symptomatic and supportive measures.


Presentation

This disorder is classified as a congenital condition, because the signs and symptoms develop at birth in virtually all patients, but lesions may develop later on, and initial presentation may be between 3 months to 2 years after birth. The typical presentation includes a marble or fish-like appearance of the skin, usually purple or blue in color, with dilated vessels observed through the skin [7][8]. This phenomenon may appear under physiologic conditions (cold temperatures), but it is distinguished from physiological cutis marmorata when the changes on the skin do not subside after rewarming.

Skin changes can be localized to one limb or the trunk, and when the trunk is involved, the appearance is usually restricted to one half of the body. In addition to the skin appearance, telangiectasias, as well as phlebectasias commonly appear. The overlying skin may become atrophic (because of decreased perfusion of the skin), which may lead to ulceration.

Apart from the changes in blood vessels and the overlying skin, other findings may be observed, the most common ones being limb and body asymmetry, with either hypotrophy or hypertrophy, as a result of the abnormal development of muscle and subcutaneous tissue due to malformations in the local circulatory system [9]. Other findings include the presence of glaucoma, retinal detachments, and the presence of benign vascular tumors, such as cavernous and capillary hemangiomas, as well as nevus flammeus. Findings that are somewhat rare, but still observed in this syndrome include mental and psychomotor retardation, cleft palate, congenital heart disease (including patent foramen ovale, patent ductus arteriosus, and double aortic arch), syndactyly, micrognathia, arrhythmias, and hypothyroidism. Airway obstruction may occur as a result of unilateral hypertrophy of the vocal cords, which may induce apnea and brainstem compromise.

Atrial Septal Defect
  • We reported cerebral magnetic resonance imaging (MRI) findings of a case with M-CMTC, who had giant atrial septal aneurysm and atrial septal defect.[ncbi.nlm.nih.gov]
Tall Stature
  • We describe a boy presenting with macrosomy, body asymmetry, cutis marmorata and tall stature who developed a retinoblastoma.[ncbi.nlm.nih.gov]
Pleural Effusion
  • In addition to the cutaneous involvement, the patient also had fetal ascites, pleural effusion, patent ductus arteriosus, glaucoma, retinal detachment in the left eye, and telangiectasia in the right eye.[ncbi.nlm.nih.gov]
Aspiration
  • It gives good results in relation to body contours, especially when the superficial and deep layers of the superficial fascia are aspirated.[ncbi.nlm.nih.gov]
Pharyngitis
  • Kemper and colleagues injected between 0.25 and 1 ml·kg ¹ body weight of air into the ascending pharyngeal artery (roughly equivalent to human internal carotid artery) of pigs weighing 30-40kg.[ncbi.nlm.nih.gov]
Increased Birth Weight
  • We report a male patient with increased birth weight and growth, cutis marmorata, macrocephaly, large hands and feet, thick subcutaneous tissues, postaxial polydactyly, linear skin hyperpigmentation following the lines of Blaschko, and intestinal lymphangiectasia[ncbi.nlm.nih.gov]
Genu Valgum
  • Moreover, a dysmorphic facial appearance, scoliosis, genu valgum, talipes planus and increased laxity of joints were noted.[ncbi.nlm.nih.gov]
Large Hand
  • We report a male patient with increased birth weight and growth, cutis marmorata, macrocephaly, large hands and feet, thick subcutaneous tissues, postaxial polydactyly, linear skin hyperpigmentation following the lines of Blaschko, and intestinal lymphangiectasia[ncbi.nlm.nih.gov]
High Forehead
  • Both showed macrocephaly with high forehead, overgrowth, capillary hemangiomata involving philtrum, nose, and lips, and redundant skin. In addition, the first had cutis marmorata and joint laxity.[ncbi.nlm.nih.gov]
Focal Seizure
  • Neonatal focal seizure developed and expired on the 34th day of life. The cerebral image studies suggested vascular anomalies with secondary cerebral parenchymal damage.[ncbi.nlm.nih.gov]

Workup

The diagnosis of CMTC is made primarily through clinical examination, since the symptoms are related to the skin and underlying blood vessels. Once CMTC is suspected, a thorough workup is necessary to establish the potential presence of other accompanying conditions, but also to exclude other syndromes. Detailed neurologic, ophthalmologic and orthopedic, as well as cardiologic examinations are vital in assessing the severity of the disease. Imaging techniques, such as echocardiography, magnetic resonance imaging (MRI) of the endocranium, and fundoscopy are also indicated in these patients.

Patient history is very important if patients do not present with symptoms indicative of CMTC at birth, but after several months, or after a year, and parents may provide vital information that could lead the physician toward the diagnosis.

Despite the fact that this condition affects the skin and underlying blood vessels, skin biopsy is usually not indicated, as it has been established that it yields nonspecific results. Dilation of capillaries and edema of endothelial cells are findings in microscopic evaluation of the skin, which is observed in numerous vascular conditions.

Pleural Effusion
  • In addition to the cutaneous involvement, the patient also had fetal ascites, pleural effusion, patent ductus arteriosus, glaucoma, retinal detachment in the left eye, and telangiectasia in the right eye.[ncbi.nlm.nih.gov]

Treatment

In the majority of the cases, the lesions encountered in cutis marmorata teleangiectatica congenita resolve spontaneously without treatment within the first few years of life [10]. Treatment is primarily targeted at managing other accompanying findings, such as the early development of venous insufficiency, rehabilitation of hypoplastic limbs, and the correction of accompanying anomalies (such as congenital heart disease, glaucoma, retinal detachment, etc.). There is no cure for the disease, but supportive and symptomatic therapy will effectively resolve the majority of the debilitating symptoms associated with this syndrome. It is important to recognize possibly life-threatening conditions that may accompany this disease, such as arrhythmias, congenital heart disease and venous insufficiency. For the majority of the patients, this syndrome is benign, but associated findings may provide significant morbidity, and should be treated accordingly.

Prognosis

CMTC is usually a benign disorder that spontaneously improves in the majority of the cases during the first two years of life, presumably as a result of skin maturation and development. However, the prognosis may be somewhat debilitating in patients who have associated congenital abnormalities, such as congenital heart disease, or mental retardation, and morbidity may range from mild to significant. However, cases of sudden death in infants suffering from this syndrome have been described, which is why it is imperative to closely monitor patients with CMTC, particularly if they have accompanying cardiac or neurological findings.

Etiology

The cause of CMTC is not known. Most cases appear in a sporadic fashion, without an underlying family history or predisposing conditions. Theories about its occurrence include genetic mosaicism and teratogens, although studies have not been able to strengthen these hypotheses.

Epidemiology

Since its first description in 1922 [3], more than 300 cases have been published worldwide, but the exact frequency of this disorder is not known.

Although a rather small number of cases have been documented so far, a slight predilection toward female patients has been observed.

Sex distribution
Age distribution

Pathophysiology

The pathogenesis of cutis marmorata telangiectatica congenita remains unclear, and it is suspected that several factors play a role in this syndrome. Cases of CMTC have been reported in association with fetal ascites and elevated human chorionic gonadotropin levels (beta-hCG) [4]. Although the majority of the cases occur sporadically, familial development of this syndrome has been documented and gene susceptibility locus for ischemic stroke exhibited mutations in a patient who presented with CMTC from birth [5].

Genetic mosaicism, and the ability of the gene to survive by this method, is another theory which can be supported by the distribution of the lesions, as well as its sporadic occurrence, while suspected teratogens are also implicated in the pathogenesis.

Other conditions and syndromes that primarily occur as a result of defects of the mesoderm, such as Sturge-Weber syndrome, and Klippel-Trenaunay syndrome [6], are described together with cutis marmorata telangiectatica congenita, and together they present as a group of diseases that affect the vascular system.

Prevention

Although cutis marmorata telangiectatica congenita is a very rare and relatively benign congenital disease, prevention of this syndrome is not possible, as the cause is still unknown.

Summary

Cutis marmorata telangiectatica congenita (CMTC) is a very rare congenital disorder, with about 300 cases described in literature. It includes the appearance of deep purple to blue coloration of the skin due to dilation of blood vessels in the dermis (termed cutis marmorata) [1]. Telangiectasia and phlebectasia are additional findings, and its pathogenesis remains unclear; it is presumably multifactorial. Teratogens and genetic mosaicism present as the two most prominent theories.

It is usually present at birth, while its onset may be delayed to up to 2 years of age. It usually affects one or more limbs and the trunk, but it may be generalized as well, and together with the aforementioned findings, ulcerations and atrophy of the skin may occur. Hemiatrophy, hypoplasia or hyperplasia of the limbs are also commonly encountered, while congenital heart disease and glaucoma are observed in rare cases. This disorder is benign in its nature, has a good prognosis and the diagnosis is established based on clinical findings. Other syndromes should be excluded, such as livedo reticularis, which is distinguished by its resolution to temperature changes (while cutis marmorata persists), Klippel-Trenaunay syndrome, or Cowden's disease. Biopsy examination of the skin in CMTC yields nonspecific results, and genetic testing is not available at the moment. A distinct entity including macrocephaly together with CMTC has been described in literature [2], in addition to skin and tissue changes.

Treatment of cutis marmorata telangiectatica congenita is usually not necessary, since this condition is relatively benign and spontaneously resolves during the first few years of life. However, when associated with other syndromes and conditions, including retinal detachment and arrhythmias, therapy is aimed at supportive and symptomatic measures; cases have been described in which sudden death occurred, implying that patients should be closely monitored, especially during the first several months of their life.

Patient Information

Cutis marmorata telangiectatica congenita (CMTC) is a very rare condition that primarily affects the skin and the underlying blood vessels. The name of the disease denotes the development of marble-like or fishnet-like appearance of the skin that is usually purple or dark blue-colored, with visible dilated blood vessels (medically termed cutis marmorata), together with the appearance of dilated capillaries in spider web-like fashion (known as telangiectasia). This syndrome is considered to be congenital, as these signs appear at birth in the majority of patients, but they may appear after a few months and up to two years of age.

The cause of this syndrome is unknown, and the disorder occurs sporadically in the majority of the cases, meaning that hereditary transmission is not likely, and that some other genetic or environmental factors are involved in the development of this syndrome.

Up to now, about 300 cases have been described in literature, but the actual number of cases is presumed to be higher, because of the relatively benign nature of the disease, and possibly because it can mimic some other syndromes.

The typical manifestations extend to one side of the body, most commonly affecting the limbs or the trunk, but it may be present over the entire body. Together with the presentation on skin and underlying blood vessels, other manifestations may be present, with the most common ones being limb asymmetry and atrophy, as a result of impaired perfusion of the muscle and connective tissue. Eye problems, such as glaucoma and retinal detachment, as well as mental and psychomotor retardation, congenital heart disease and arrhythmia, may be present.

The diagnosis of CMTC is made clinically, during the physical examination, and workup involves the determination of the presence of other conditions. Treatment is directed at correcting those findings, with symptomatic and supportive therapy. Most cases resolve spontaneously within the first few years of life, and rehabilitation therapy can aid in resolving limb problems such as atrophy or hypotrophy. Prevention strategies for this disease currently do not exist, as the cause is still not known.

References

Article

  1. Morelli JG. Diseases of the neonate. In: Kliegman RM, Stanton BF, St. Geme JW III, Schor NF, Behrman RE. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Elsevier Saunders. 2011;2218-2220.
  2. Canham NL, Holder SE. Macrocephaly-cutis marmorata telangiectatica congenita: a report on the natural history of a mild case. Clin Dysmorphol. 2008;17(4):279-81.
  3. Petrozzi JW, Rahn EK, Mofenson H, et al. Cutis marmorata telangiectatica congenita. Arch Dermatol. 1970;101(1):74-7.
  4. Chen CP, Chen HC, Liu FF, et al. Cutis marmorata telangiectatica congenita associated with an elevated maternal serum human chorionic gonadotrophin level and transitory isolated fetal ascites. Br J Dermatol. 1997;136(2):267-71.
  5. Abumansour IS, Hijazi H, Alazmi A, et al. ARL6IP6, a susceptibility locus for ischemic stroke, is mutated in a patient with syndromic Cutis Marmorata Telangiectatica Congenita. Hum Genet. 2015;134(8):815-822.
  6. Redondo P, Aguado L, Martínez-Cuesta A. Diagnosis and management of extensive vascular malformations of the lower limb: part II. Systemic repercussions [corrected], diagnosis, and treatment. J Am Acad Dermatol. 2011;65(5):909-23.
  7. Chatterjee R, Dey S. Cutis marmorata telangiectatica congenita with skin ulcerations in a new born. Indian J Dermatol. 2009;54(4):375-7.
  8. Ponnurangam VN, Paramasivam V. Cutis marmorata telangiectatica congenita. Indian Dermatol Online J. 2014;5(1):80-2.
  9. Morgan JM, Naisby GP, Carmichael AJ. Cutis marmorata telangiectatica congenita with hypoplasia of the right iliac and femoral veins. Br J Dermatol. 1997;137(1):119-22.
  10. Kienast AK, Hoeger PH. Cutis marmorata telangiectatica congenita: a prospective study of 27 cases and review of the literature with proposal of diagnostic criteria. Clin Exp Dermatol. 2009;34(3):319-23.

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Last updated: 2019-07-11 21:55