Korean J Dermatol.  1995 Dec;33(6):1179-1183.

Von Recklinghausen' s Disease with Plexiform Neurofibroma , Giant Pigmentation , and Skeletal Abnormalities

• Hwang SM
• Ahn SK
• Lee BJ
• Lee WS
• Choi EH

Abstract

Plexiform neurofibroma is considered a pathognomic of Von Recklinghousen's disease, which involves the deep and large nerve trunk. These are large irregular nerve fascicles which result from an increase in endoneural matrix within individual nerve facicles, without an increased number of nerve fibers. We experenced a case of Von Recklinghausen's disease in a 24 year-old male who had variable cutaneous skeletal, and CNS lesions. He presented multiple neurofibromas, cafe-au-lait spots, and axillary freckles as common cutaneous lesions of NF-I and giant pigmentation, sacral hypertrichosis, and plexiform neurofibroma as unusual cutaneous lesions. Also he had a scoliosis, bowing deformity of the humerous and wedging deformity of the body of the 5th cervical spine as a skeletal manifestation and cortical calcification in the occipital area as a CNS manifestation.

Keyword

Von Recklinghausen`s Disease; Plexiform Neurofibroma; Giant pigmentation

MeSH Terms

Cafe-au-Lait Spots
Congenital Abnormalities
Humans
Hypertrichosis
Male
Melanosis
Nerve Fibers
Neurofibroma, Plexiform*
Neurofibromatoses
Neurofibromatosis 1
Pigmentation*
Scoliosis
Spine
Young Adult