Disease at a Glance

Summary
Circumferential skin creases Kunze type (CSC-KT) is a rare congenital disorder that affects the skin, but can also affect other areas of the body. Babies with CSC-KT are born with excess skin that folds over to form thin rings (creases) that circle the arms and legs. CSC-KT was originally called the 'Michelin tire baby syndrome' because of the similarity of the rings on the arms and legs to the cartoon mascot of the French company. The rings on the arms and legs are usually found on both sides of the body. These skin folds do not cause any problems and typically disappear naturally as the child grows. In some cases other features are associated with CDC-KT including cleft palate, delayed growth, development delay, intellectual disability, genital abnormalities, seizures, changes in the way the brain developed (brain malformations), and/or changes in the way other organs of the body developed. Some people may have unusual facial features including narrow eye openings (blepharophimosis), very small eyes (microphthalmia) wide spaced eyes (hypertelorism), skin of the upper eyelid covering the inner corner of the eye (epicanthal folds), crossed eyes (strabismus), broad nasal bridge, low-set ears, and a very small mouth. In some cases, CSC-KT is caused by changes in the TUBB gene or in the MAPRE2 gene. CSC-KT is very rare, and there are fewer than 50 cases reported in the medical journals. Diagnosis is made based on the presence of multiple rings of folded excess skin on the arms and/or legs and other common features. Inheritance is autosomal dominant. CSC-KT caused by genetic changes in the TUBB and MAPRE2 gene may be classified under the group of diseases known as tubulinopathies, because like the genetic changes causing other tubulinopathies, genetic changes in the TUBB and MAPRE2 gene affect a cell structure known as microtubule. Problems with the development of the brain (brain malformations) are common to all the tubulinopathies. Cases of CSC-KT caused by genetic changes in the MAPRE2 gene may be more specifically called congenital symmetric circumferential skin creases-2 (CSCSC2).
Estimated Number of People with this Disease

This section is currently in development.

What Information Does GARD Have For This Disease?

Many rare diseases have limited information. Currently GARD is able to provide the following information for this disease:

*Data may be currently unavailable to GARD at this time.
When do symptoms of this disease begin?
The most common ages for symptoms of a disease to begin is called age of onset. Age of onset can vary for different diseases and may be used by a doctor to determine the diagnosis. For some diseases, symptoms may begin in a single age range or several age ranges. For other diseases, symptoms may begin any time during a person's life.
Prenatal
Before Birth
Newborn Selected
Birth-4 weeks
Infant Selected
1-23 months
Child
2-11 years
Adolescent
12-18 years
Adult
19-65 years
Older Adult
65+ years
The common ages for symptoms to begin in this disease are shown above by the colored icon(s).

Symptoms

These symptoms may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom.
This disease might cause these symptoms:

29 Symptoms

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Causes

Genetic Disease

Circumferential skin creases Kunze type is a genetic disease, which means that it is caused by one or more genes not working correctly.

The following gene(s) are known to be associated with this disease: MAPRE2, TUBB

Questions:

Inheritance

All individuals inherit two copies of most genes. The number of copies of a gene that need to have a disease-causing variant affects the way a disease is inherited. This disease is inherited in the following pattern(s):

Questions:

Next Steps

Talking with the Medical Team

Good communication between the patient, family, and medical team can lead to an accurate diagnosis. In addition, health care decisions can be made together which improves the patient’s well-being and quality of life.

Describing Symptoms

Describe details about the symptoms. Because there may be many different causes for a single symptom, it is best not to make a conclusion about the diagnosis. The detailed descriptions help the medical provider determine the correct diagnosis.

To help describe a symptom:

  • Use a smartphone or a notebook to record each symptom before the appointment
  • Describe each symptom by answering the following questions:
    • When did the symptom start?
    • How often does it happen?
    • Does anything make it better or worse?
  • Tell the medical team whether any symptoms affect daily activities

Preparing for the First Visit

Working with a medical team to find a diagnosis can be a long process that will require more than one appointment. Make better health decisions by being prepared for the first visit with each member of the medical team.

    Make informed decisions about health care: 
    • Prepare a list of questions and concerns before the appointment
    • List the most important questions first, not all questions may be answered in the first visit
    • Ask questions about symptoms, possible diagnoses, tests, and treatment options
    For future appointments:
    • Discuss what was not addressed at the last visit
    • Discuss changes in the quality of life for the patient, family, and caregivers
    • Discuss health goals and other issues in the patient’s and family’s life that may affect the health care decisions
    Take notes during the appointments to help remember what was discussed.

    Last Updated: Nov. 8, 2021