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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?
Marina Bravin
Advanced in Circumferential Skin Creases Kunze Type
Dermatology
Advanced in Circumferential Skin Creases Kunze Type
Dermatology

Bassett Oneonta Specialty Services

1 Associate Drive, 
Oneonta, NY 
Languages Spoken:
English

. Dr. Bravin is rated as an Advanced provider by MediFind in the treatment of Circumferential Skin Creases Kunze Type. Her top areas of expertise are Actinic Keratosis, Melanoma, Warts, and Psoriasis.

Jennifer O'reilly
Experienced in Circumferential Skin Creases Kunze Type
Internal Medicine
Experienced in Circumferential Skin Creases Kunze Type
Internal Medicine

Bassett Health Center Norwich

55 Calvary Drive, 
Norwich, NY 
Languages Spoken:
English
Offers Telehealth

. Dr. O'reilly is rated as an Experienced provider by MediFind in the treatment of Circumferential Skin Creases Kunze Type. Her top areas of expertise are Ringworm, Maturity Onset Diabetes of the Young, Hypertension, and Familial Hypertension.

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

Holladay Clinic - Dermatology

6272 South Highland Drive, Suite 202, 
Murray, UT 
Experience:
23+ years
Languages Spoken:
English

Jana Parker is a Dermatologist in Murray, Utah. Dr. Parker has been practicing medicine for over 23 years and is rated as an Experienced provider by MediFind in the treatment of Circumferential Skin Creases Kunze Type. Her top areas of expertise are Sunburn, Actinic Keratosis, Melanoma, and Universal Acquired Melanosis.

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