Von Recklinghausen' s Disease with Plexiform Neurofibroma , Giant Pigmentation , and Skeletal Abnormalities.
- Author:
Sang Min HWANG
;
Sung Ku AHN
;
Beom Joo LEE
;
Won Soo LEE
;
Eung Ho CHOI
- Publication Type:Case Report
- Keywords:
Von Recklinghausen`s Disease;
Plexiform Neurofibroma;
Giant pigmentation
- MeSH:
Cafe-au-Lait Spots;
Congenital Abnormalities;
Humans;
Hypertrichosis;
Male;
Melanosis;
Nerve Fibers;
Neurofibroma, Plexiform*;
Neurofibromatoses;
Neurofibromatosis 1;
Pigmentation*;
Scoliosis;
Spine;
Young Adult
- From:Korean Journal of Dermatology
1995;33(6):1179-1183
- CountryRepublic of Korea
- Language:Korean
-
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.
