Multiple benign circumferential skin creases on limbs

Multiple benign circumferential skin creases on limbs (MBCScl), also known as Michelin tire baby syndrome or Kunze-Riehm syndrome, is a rare congenital skin condition characterized by the presence of deep, ring-like skin folds or creases encircling the limbs, particularly the arms and legs. These creases resemble the appearance of the mascot of the Michelin tire company, giving rise to the colloquial name. The condition is present at birth and primarily affects the skin and subcutaneous tissue of the extremities, though creases may also appear on the neck and trunk in some cases. The skin creases are caused by excess folding of the skin, sometimes associated with underlying lipomatous or smooth muscle hamartomas. In many cases, the creases tend to improve or resolve spontaneously during childhood as the child grows. The condition can occur as an isolated finding or may be associated with additional features including intellectual disability, facial dysmorphism, cleft palate, and other congenital anomalies in some reported cases. Some patients have been found to have associated chromosomal abnormalities, including deletions on chromosome 11q or 7p, while other cases have been linked to mutations in the MAPRE2 gene, which plays a role in microtubule dynamics and cell division. There is no specific curative treatment for multiple benign circumferential skin creases on limbs. Management is primarily supportive and may include monitoring for associated anomalies, developmental assessment, and cosmetic or surgical intervention if the skin folds cause functional impairment. Genetic counseling is recommended for affected families. The prognosis is generally favorable when the condition occurs in isolation, as the skin creases often diminish with age.

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