Circumferential skin creases Kunze type

Alternate names

(CSC-KT); Michelin tire baby syndrome

Definition

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.

Epidemiology

CSC-KT is very rare, and there are fewer than 50 cases reported in the medical journals.

Cause

• In some cases, CSC-KT is caused by changes (mutations) in the TUBB gene or in the MAPRE2 gene.
• CSC-KT caused by mutations in the TUBB and MAPRE2 gene may be classified under the group of diseases known as tubulinopathies, because like the mutations causing other tubulinopathies, mutations 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 mutations in the MAPRE2 gene may be more specifically called congenital symmetric circumferential skin creases-2 (CSCSC2).

Inheritance

Autosomal dominant pattern, a 50/50 chance.

Inheritance is autosomal dominant.

Signs and symptoms

• 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.

Diagnosis

Diagnosis is made based on the presence of multiple rings of folded excess skin on the arms and/or legs and other common features.

Treatment

• No treatment may be needed if the rings of excess skin are the only birth defect.
• Treatment of other associated features may include early intervention, physical therapy, occupational therapy, speech therapy, anti-seizure medication, and surgery to correct birth defects such as cleft palate or genital abnormalities.

NIH genetic and rare disease info

• NIH info on Circumferential skin creases Kunze type

Circumferential skin creases Kunze type is a rare disease.