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Learn About Circumferential Skin Creases Kunze Type

What is the definition of Circumferential Skin Creases Kunze Type?
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).
What are the alternative names for Circumferential Skin Creases Kunze Type?
  • Circumferential skin creases Kunze type
  • (CSC-KT)
  • Michelin tire baby syndrome
Who are the top Circumferential Skin Creases Kunze Type Local Doctors?
Advanced in Circumferential Skin Creases Kunze Type
Dermatology
Advanced in Circumferential Skin Creases Kunze Type
Dermatology

University Hospitals Medical Group Inc

11100 Euclid Ave, 
Cleveland, OH 
Languages Spoken:
English
Accepting New Patients

Kord Honda is a Dermatologist in Cleveland, Ohio. Dr. Honda is rated as an Advanced provider by MediFind in the treatment of Circumferential Skin Creases Kunze Type. His top areas of expertise are Melanoma, Erythroderma, Nakajo-Nishimura Syndrome, and Stiff Skin Syndrome. Dr. Honda is currently accepting new patients.

Christiane S. Querfeld
Experienced in Circumferential Skin Creases Kunze Type
Experienced in Circumferential Skin Creases Kunze Type

City Of Hope Medical Foundation

1601 Avocado Ave, 
Newport Beach, CA 
Languages Spoken:
English
Offers Telehealth

Christiane Querfeld is a Dermatologist in Newport Beach, California. Dr. Querfeld is rated as an Experienced provider by MediFind in the treatment of Circumferential Skin Creases Kunze Type. Her top areas of expertise are Mycosis Fungoides, Cutaneous T-Cell Lymphoma (CTCL), T-Cell Lymphoma, and Sezary Syndrome.

 
 
 
 
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Experienced in Circumferential Skin Creases Kunze Type
Experienced in Circumferential Skin Creases Kunze Type

Forefront Dermatology Sc

801 York St, 
Manitowoc, WI 
Languages Spoken:
English
Accepting New Patients

Kelli Hutchens is a Dermatologist in Manitowoc, Wisconsin. Dr. Hutchens is rated as an Experienced provider by MediFind in the treatment of Circumferential Skin Creases Kunze Type. Her top areas of expertise are Melanoma, Actinic Keratosis, Neurocutaneous Melanosis, and Seborrheic Keratosis. Dr. Hutchens is currently accepting new patients.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center