Rare Ophthalmology News

Disease Profile

Cutis marmorata telangiectatica congenita

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Neonatal

ICD-10

Q82.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

CMTC; Hereditary cutis marmorata telangiectatica congenita; Van Lohuizen syndrome

Categories

Blood Diseases; Congenital and Genetic Diseases; Skin Diseases

Summary

Cutis marmorata telangiectatica congenita (CMTC) is a birth defect involving the skin and blood vessels. It is characterized by patches of marbled-looking skin (cutis marmarota), small widened blood vessels under the skin (telangiectasia) and varicose veins (phlebectasia).[1][2] The skin findings most often occur on the legs, but may also occur on the arms and trunk. The face is only rarely involved. 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. The skin symptoms associated with CMTC generally improve with age.[3][4] 

CMTC can occur alone or along with a variety of other birth defects, particularly those involving undergrowth or overgrowth of the same arm or leg. Most cases are thought to be sporadic (noninherited), although rare cases have been observed in families.[3][4]

Symptoms

The symptoms of cutis marmorata telangiectatica congenita (CMTC) may be different from infant to infant. Some may be more severely affected than others. Not everyone with CMTC will have the same symptoms.

CMTC is generally present at birth (congenital). Infants may be born with:

Red or purple marbled looking patches of skin that don’t respond to warmth (cutis marmorata)
Clusters of blood vessels visible under the skin (telangiectasia)
Skin ulcers (open sores)
Limb size discrepancy

The skin findings are usually seen in on part of the skin on the lower limbs, but can be on upper limbs or trunk, and less often, on the face. CMTC is usually confined to one part of the skin, on one limb, or on one side of the body. In rare cases, CMTC covers the whole body. The skin symptoms of CMTC typically get better over time and there are no known long-term complications of this condition.[3][2]

CMTC can also be found associated with other birth defects or as part of other syndromes as well.[3] 

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of the upper limb
0002817
Arteriovenous malformation
0100026
Cutis marmorata
0000965
Seizure
0001250
Short lower limbs
Short legs
0006385
Skin erosion
0200041
30%-79% of people have these symptoms
Aplasia/Hypoplasia of the skin
Absent/small skin
Absent/underdeveloped skin

[ more ]

0008065
Leukocoria
0000555
Retinal detachment
Detached retina
0000541
Telangiectasia of the skin
0100585
5%-29% of people have these symptoms
Arterial stenosis
Narrowing of an artery
0100545
Ascites
Accumulation of fluid in the abdomen
0001541
Asymmetric growth
Uneven or disproportionate growth of one body part compared to another
0100555
Blue nevus
0100814
Capillary hemangioma
Strawberry birthmark
0005306
Cognitive impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment

[ more ]

0100543
Displacement of the urethral meatus
0100627
Finger syndactyly
0006101
Hypothyroidism
Underactive thyroid
0000821
Intrauterine growth retardation
Prenatal growth deficiency
Prenatal growth retardation

[ more ]

0001511
Micrognathia
Little lower jaw
Small jaw
Small lower jaw

[ more ]

0000347
Multicystic kidney dysplasia
0000003
Multiple cafe-au-lait spots
0007565
Oral cleft
Cleft of the mouth
0000202
Patent ductus arteriosus
0001643
Purpura
Red or purple spots on the skin
0000979
Reduced bone mineral density
Low solidness and mass of the bones
0004349
Scoliosis
0002650
Toe syndactyly
Fused toes
Webbed toes

[ more ]

0001770
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance
0000007
Bowing of the legs
Bowed legs
Bowed lower limbs

[ more ]

0002979
Cutis marmorata telangiectatica congenita
0025107
Glaucoma
0000501
Hypertension
0000822
Telangiectasia
0001009

Cause

The exact cause of cutis marmorata telangiectatica congenita (CMTC) is not known. It is thought that a combination of factors may contribute to the development of this condition. These factors may include diet, viral infections, and genetic factors. In a few rare cases, CMTC may occasionally run in families.[3][

Diagnosis

Cutis marmorata telangiectatica congenita (CMTC) is diagnosed based on a clinical examination of the signs and symptoms. Additional studies may be done to look for signs of other syndromes that include CMTC.[4]

Treatment

There is no specific treatment for isolated cutis marmorata telangiectatica congenita (CMTC). The skin symptoms typically fade and become less noticeable by 2 years of age, and often completely disappear by adolescence.[3][4] If treatment is necessary, it is symptom specific and supportive.

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Learn more

    These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

    Where to Start

    • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

      In-Depth Information

      • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
      • PubMed is a searchable database of medical literature and lists journal articles that discuss Cutis marmorata telangiectatica congenita. Click on the link to view a sample search on this topic.

        References

        1. Schwartz RA, Zalewska A, Erdal E, and Onder M.. Cutis Marmorata Telangiectatica Congenita. Medscape Reference. Updated May 14, 2018; https://emedicine.medscape.com/article/1086221-overview.
        2. Shareef S, Horowitz D. Cutis marmorata telangiectatica congenita. StatPearls. 2019; https://www.ncbi.nlm.nih.gov/books/NBK534799.
        3. van Steensel M. Cutis marmorata telangiectatica congenita. National Organization for Rare Disorders (NORD). May 21 2015; https://rarediseases.org/rare-diseases/cutis-marmorata-telangiectatica-congenita/.
        4. Jia D, Rajadural VS, Chandran S. Cutis marmorata telangiectatica congenita with skin ulceration: a rare benign skin vascular malformation. BMJ Case Rep. Oct. 7, 2018; 2018:https://www.ncbi.nlm.nih.gov/pubmed/30297497.
        5. Cutis marmorata telangiectatica congenita. On-line Mendelian Inheritance in Man. Updated 11/26/2018; https://www.omim.org/entry/219250.

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