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
The rash began 2 hours before his arrival and was initially pruritic, but subsequently became painful. The patient also complained of acute onset of aching pain in both hips and his left arm. [westjem.com]
In most cases, the condition causes no problems and is not painful. Very rarely, part of the affected skin may bleed or break down, which may be painful. [gosh.nhs.uk]
"Cutis Marmorata" skin symptoms after diving, most frequently in the form of an itching or painful cutaneous red-bluish discoloration are commonly regarded as a mild form of decompression sickness (DCS), and treated with oxygen inhalation without reverting [ncbi.nlm.nih.gov]
- Developmental Disorder
Read More Case Letter Cardiofaciocutaneous Syndrome and the Dermatologist’s Contribution to Diagnosis Author: Vanessa Barreto Rocha, MD Rafael de Abreu Moraes, MD Luciana Baptista Pereira, MD RASopathies, a class of developmental disorders, are caused [mdedge.com]
Happle proposed that a number of developmental disorders of skin are a result of lethal genes surviving by mosaicism. It is the mosaicism that may explain the variable and overlapping manifestations. [ijpd.in]
Based on pathogenic mechanisms, 5 main types of autosomal recessive cerebellar ataxias may be distinguished: congenital (developmental disorder), mitochondrial ataxias, ataxias associated with metabolic disorders, ataxias associated with a DNA repair [jamanetwork.com]
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]
- Failure to Thrive
[…] to thrive (FTT).  Remarkable reports include atypical CMTC with retinoblastoma.  Interestingly, association with tumor syndromes such as meningioma or leukemia have also been reported. [e-ijd.org]
In some patients moyamoya disease was associated with cutis marmorata,, but not in our patient.Nevertheless, all decompression incidents were minor, and consisted of cutaneous itching (no cutis marmorata or any other objective erythema).He also had widespread [collinsdictionary.com]
On examination, she had reticular erythema over the left superior limb (figure 1) and hypotrophy of the same limb (figure 2). The circumferences of her left upper arm and right arm were 13.5 and 15.5 cm, respectively. [casereports.bmj.com]
A larger proportion of patients (66.8%) had localised CMTC, and 7.1% of these had CMTC erythema involving the face. [ojrd.biomedcentral.com]
Minor criteria consist of ulceration, atrophy, fading of erythema within two years, a port-wine stain outside of the area affected by CMTC, and telangiectasia. [jaad.org]
The annular lesions can be confused with those of erythema annulare centrifugum, familial annular erythema, erythema multiforme, Pityrosporum infections, annular erythema of infancy, and erythema gyratum atrophicans transiens. [scielo.br]
Lymphedema 258 RadiationInduced Cutaneous Angiosarcoma 262 Epithelioid Angiosarcoma 268 Malignant Glomus Tumor Glomangiosarcoma 273 Angiofibroma 279 Angiolipoma 287 Cutaneous Angiomyxoma 293 Disorders Erroneously Considered 299 Acral Pseudolymphomatous Angiokeratoma [books.google.com]
Congenita 62 Tamburro J...Patel MS 35679444 2022 25 Cutis marmorata telangiectatica congenita being caused by postzygotic GNA11 mutations. 62 Schuart C...Happle R 35351629 2022 26 Cutis marmorata telangiectatica congenita with isolated lower limb defect and angiokeratoma [malacards.org]
[…] secondary to glaucoma tonometry should be performed if there are any facial lesions or a high index of suspicion.   Rarely, acral cyanosis and neonatal ascites have also been reported.  Associated vascular anomalies such as port wine stains, angiokeratomas [statpearls.com]
Vascular anomalies, for example, Sturge-Weber syndrome, Klippel-Trenaunay-Weber syndrome, angiokeratomas, hemangiomas, and Mongolian spots have been associated with CMTC. The baby reported in this article had no such vascular abnormality. [journals.lww.com]
Initially, there is erythema accompanied by pruritus, and then the rash spreads irregularly and deepens in color. It develops a mottled appearance, with areas of pallor surrounded by cyanotic patches. During recompression, the rash resolves. [nejm.org]
[…] diving medicine has shown that patients initially presented with only this symptom have a high likelihood of progression to neurological, Type II, DCS without prompt treatment. The marbling does not resolve until few days after treatment, but any pruritus [en.wikipedia.org]
Khambati N...Dutta A 32631847 2021 30 Born in the Purple: An Exceptional Case of Cutis Marmorata Telangiectatica Congenita. 62 Kyriakou G...Georgiou S 33835001 2020 31 Early cutis marmorata telangiectatica congenita masquerading as ulcerated retiform purpura [malacards.org]
Early cutis marmorata telangiectatica congenita masquerading as ulcerated retiform purpura: A Diagnostic trap. Pediatr Dermatol. 2020;37:979-80. [CrossRef] [PubMed] [Google Scholar] Pernet C, Guillot B, Bigorre M, Bessis D. [cosmoderma.org]
Early cutis marmorata telangiectatica congenita masquerading as ulcerated retiform purpura: a diagnostic trap. Pediatr Dermatol. 2020;37:979–80. [PubMed: 32749028] Mazereeuw-Hautier J, Carel-Caneppele S, Bonafé JL. [ncbi.nlm.nih.gov]
We performed an autologous serum skin test (ASST), which resulted in a positive, suggesting an autoimmune basis of the condition. [ncbi.nlm.nih.gov]
Furthermore, we suggest reconsideration of the major criterium "absence of venectasia" from the proposed diagnostic criteria, and instead include body asymmetry. [portal.findresearcher.sdu.dk]
This suggests that children with CMTC affecting the lower extremities should be monitored for leg length discrepancy during childhood. [ojrd.biomedcentral.com]
CONCLUSION: Cutis marmorata is not uncommon in our ischemic stroke patient population, and is characterized by uncoupling of protein C and antithrombin III with altered thrombin hemostasis. [ncbi.nlm.nih.gov]
Two other studies have reported autosomal recessive inherited homozygous mutations in the ARL6IP6 gene in patients with CMTC and stroke [38, 63]. [ojrd.biomedcentral.com]
Congenital livedo reticularis and recurrent strokes in two unrelated young children. Clin Pediatr (Phila). 2006;45(4):367-372. 3. Kraemer M, Linden D, Berlit P. [consultant360.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.
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.
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.
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.
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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- 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.
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