Associated Disorders of Chiari Type I Malformations

A Review

Marios Loukas, M.D., Ph.D.; Brian J. Shayota, B.S.; Kim Oelhafen, B.S.; Joseph H. Mill er, M.D.; Joshua J. Chern, M.D., Ph.D.; R. Shane Tubbs, M.S., P.A.-C., Ph.D.; W. Jerry Oakes, M.D.


Neurosurg Focus. 2011;31(3):e3 

In This Article

Cutaneous Disorders

Although it may not be considered a traditional association, cutaneous disorders are frequently reported to occur in conjunction with CM-I. One such disorder is neurofibromatosis Type I, in which a relationship as high as 8% has been reported.[71] Some investigators have hypothesized that mesodermal deficiency arrests posterior cranial fossa development, which is also proposed to occur in cutaneous disorders such as neurofibromatosis Type I.[36]

Equally mysterious is the association of CM-I with macrocephaly-cutis marmorata telangiectatica congenita,[73] which is characterized by benign spider nevuslike telangiectasias and superficial ulcerations, but little is known about the pathology. Hence, no mechanism has been suggested for the association.

Several other cutaneous disorders have been suggested as having an association with CM-I, including LEOPARD syndrome,[1] blue rubber bleb nevus syndrome,[27] giant congenital melanocytic nevi,[14] phacomatosis pigmentovascularis Type II,[11] acanthosis nigricans,[33] and Waardenburg syndrome variants.[41] These associations are all based on rare case reports and thus may have occurred coincidentally with CM-I.