Michelin tire baby syndrome

Michelin tire baby syndrome
Synonyms	Circumferential skin creases Kunze type, Kunze-Riehm syndrome
Pronounce	N/A
Specialty	N/A
Symptoms	Multiple circumferential skin creases, growth retardation, developmental delay
Complications	N/A
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutation
Risks	Family history
Diagnosis	Clinical examination, genetic testing
Differential diagnosis	Cutis laxa, Ehlers-Danlos syndrome
Prevention	N/A
Treatment	Supportive care, physical therapy
Medication	N/A
Prognosis	Variable, generally good
Frequency	Rare
Deaths	N/A

Michelin Tire Baby Syndrome (MTBS) is a rare genetic disorder characterized by multiple, symmetric, ring-shaped skin creases, or folds, present at birth. The name of the condition is derived from the Michelin Tire mascot, who is depicted as a figure made of many tire-like rings.

Symptoms and Signs

The primary symptom of MTBS is the presence of multiple ring-like skin creases. These are most commonly found on the limbs, but can also be present on the palms of the hands, soles of the feet, back, and other parts of the body. Other symptoms can include facial abnormalities, growth retardation, intellectual disability, and other physical abnormalities.

Causes

MTBS is caused by mutations in the TUBB gene. This gene provides instructions for making a protein that is a key component of microtubules, which are rigid, hollow fibers that make up the cell's structural framework (cytoskeleton). Mutations in the TUBB gene disrupt the normal function of microtubules, leading to the characteristic features of MTBS.

Diagnosis

Diagnosis of MTBS is based on the characteristic physical features. Genetic testing can confirm the diagnosis by identifying a mutation in the TUBB gene.

Treatment

There is currently no cure for MTBS. Treatment is symptomatic and supportive, and may include physical therapy to improve mobility and occupational therapy to improve daily living skills.

Prognosis

The prognosis for individuals with MTBS varies. Some individuals have mild symptoms and live normal lives, while others may have severe physical and intellectual disabilities.

See Also

• Genetic Disorders
• Skin Disorders
• TUBB gene