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.
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 . 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 . 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.
Entire Body System
- Multiple Congenital Anomalies
Abstract A 1-year-old female with the following multiple congenital anomalies is described: large vascular plaques on the scalp with atrophy and ulcerations, cutis marmorata and dilated veins on the trunk and extremities, short toes with partially missing [ncbi.nlm.nih.gov]
Del Giudice SM, Nydorf ED: Cutis marmorata telangiectatica congenita with multiple congenital anomalies. Arch Dermatol 1986;122:1060–1061. [karger.com]
PMID: 3740886 Case Reports Cutis marmorata telangiectatica congenita with multiple congenital anomalies S M Del Giudice et al. Arch Dermatol. 1986 Sep. Abstract Cutis marmorata telangiectatica congenita (CMTC) is a rare cutaneous vascular anomaly. [pubmed.ncbi.nlm.nih.gov]
Cutis marmorata telangiectatica congenita with multiple congenital anomalies (van Lohuizen’s syndrome). Dermatologica. 1981;163(5):408-12. ↑ Vascular Lesions and Congenital Nevi in the Newborn. [wikidoc.org]
- Trisomy 21
This condition is also a common finding in babies with Down syndrome, trisomy 21. There is a more pronounced form of this disorder known as cutis marmorata telangiectatica congenita (congenital generalized phlebectasia), which is rare. [drhull.com]
While CM is a relatively benign disorder, persistent CM is associated with Down's (trisomy 21), Edward's (trisomy 18), and Cornelia de Lange syndromes. CM may also indicate poor perfusion in infants developing sepsis. [aocd.org]
She was the first female pediatrician in the Netherlands and died of scarlet fever at the age of 44 years. Incidence Unknown. Approximately 300 cases have been published worldwide. [accessanesthesiology.mhmedical.com]
- Vascular Disease
Cutis marmorata telangiectatica congenita is a rare, benign, sporadic and cutaneous vascular disease. [turkarchpediatr.org]
Some researchers suggested CMTC belongs to a group of vascular diseases (e.g., Sturge-Weber Syndrome, Klippel-Trénaunay Syndrome ) associated with other mesodermal defects occurring during embryogenesis. [accessanesthesiology.mhmedical.com]
Sturge-Weber syndrome, KTW syndrome and CMTC may be included in a spectrum of vascular diseases that are associated with other developmental defects of the mesoderm during embryonic life. [ijpd.in]
Adams-Oliver syndrome with widespread CMTC and fatal pulmonary vascular disease. Dadzie OE, Tyszczuk L, Holder SE, Teixeira F, Charakida A, Scarisbrick J, Chu A. Dadzie OE, et al. [pubmed.ncbi.nlm.nih.gov]
Macrocephaly-cutis marmorata telangiectatica congenita is a recently recognized syndrome described mainly in the genetics literature. [ncbi.nlm.nih.gov]
The disorder formerly known as macrocephaly-cutis marmoratatelangiectatica congenital (M-CMTC) is a distinct genetic disease and is now called macrocephaly-capillary malformation (M-CM/MCAP) Virtually all cases of CMTC occur randomly for no apparent reason [wa.kaiserpermanente.org]
Cutis marmorata telangiectatica congenita with gangrenous ulceration and hypovolaemic shock. Eur J Pediatr. 2005 Jul;164(7):411-3. ↑ 13.0 13.1 Melani L, Antiga E, Torchia D, et al. [wikidoc.org]
The ulcer was positioned on the upper back over the spinal bone. In addition to the anatomical location of the ulcer, the vascular ectases may have played a part in the refractory ulceration. [ncbi.nlm.nih.gov]
Clinical case: Syndrome of cutis marmorata teleangiectatica congenital with multiple ulcers in a newborn child. Int J Pregn & Chi Birth. 2018;4(3):136-137. [medcraveonline.com]
Key clinical features including cutis marmorata, telangiectases, phlebectases, atrophic ulcerated lesions, and a tendency to improve with age, are essential in making the correct diagnosis. [miami.pure.elsevier.com]
- Skin Lesion
Most patients showed a definite improvement of their mottled vascular skin lesions within 2 years. The lesions had totally disappeared, or only faded residual lesions remained. [ncbi.nlm.nih.gov]
lesions.   Enhancing Healthcare Team Outcomes CMTC usually does not require treatment of skin lesions. [statpearls.com]
- Skin Ulcer
Keywords: Cutis marmorata telangiectatica congenita, congenital vascular skin disorder, skin lesion improves How to cite this article: Chatterjee R, Dey S. Cutis marmorata telangiectatica congenita with skin ulcerations in a new born. [e-ijd.org]
CMTC usually only affects a specific area of the skin, although there have been a few cases of CMTC over the whole body. It may occasionally occur along with open sores (skin ulceration) or skin atrophy. [rarediseases.info.nih.gov]
Areas of skin ulceration are a potential entry site for infections and should be kept clean and covered. Avoid sudden increases in blood pressure in patients with known cardiovascular malformations. [accessanesthesiology.mhmedical.com]
The presence of atrophy, skin ulceration, and sharp demarcation of a localized lesion that does not disappear after warming all distinguish CMTC from physiological cutis marmorata. Congenital anomalies have been reported in 20-80% of patients with [journals.lww.com]
- Skin Atrophy
The major skin findings are persistent, fixed cutis marmorata, telangiectasia, and phlebectasia; often, there is associated skin atrophy and ulceration as well. [ncbi.nlm.nih.gov]
Cutis marmorata telangiectatica congenita, a vascular malformation associated with skin atrophy. Unlike typical cutis marmorata, it does not resolve with skin rewarming. [clinicalgate.com]
Abstract Abstract: Cutis marmorata telangiectatica congenita (CMTC) is an uncommon, sporadic, congenital cutaneous condition presenting with persistent cutis marmorata, telangiectasia, phlebectasia and possible ulceration of the involved skin, skin atrophy [onlinelibrary.wiley.com]
A 20-year-old man with mental impairment, was referred to us for evaluation of recurring idiopathic urticaria episodes, characterized by a diffuse spreading of wheals and severe itching lacking response to traditional antihistamines. [ncbi.nlm.nih.gov]
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. [wikidoc.org]
Telangiectatica Congenita polyarteritis nodosa + Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related pyoderma gangrenosum + retinal telangiectasia + Reynolds Syndrome Sneddon syndrome Takayasu's arteritis temporal arteritis + urticaria [rgd.mcw.edu]
Scabies Sclerotherapy – Treatment of Spider and Vericose Veins Sebaceous Carcinoma Seborrheic Dermatitis Seborrheic Keratoses Skin Tags Stretch Marks – Striae Sunburn Syringoma Skin Conditions T – Z Telangiectasias Tinea Versicolor Topical Steroids Urticaria [contourderm.com]
Treatment for telangiectasis involving the veins responds well to sclerotherapy, which focuses on irritating the lining of the blood vessel, causing it to swell and stick together, and the blood to clot. [humanitas.net]
Clinical signs that should cause concern are a rapidly enlarging head; acute or progressive paresis; focal neurologic signs; seizures; apnea, swallowing problems, oculomotor difficulties, and other brainstem signs; or lethargy, irritability, headache, [jamanetwork.com]
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.
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 . 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.
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.
Since its first description in 1922 , 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.
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) . 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 .
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 , are described together with cutis marmorata telangiectatica congenita, and together they present as a group of diseases that affect the vascular system.
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) . 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 , 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.
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.
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