Bilateral segmental neurofibromatosis.

Abstract

Some years later, Roth et al. recognized several cases A 57-year-old Japanese woman was referred to our of segmental NF that did not neatly adhere to any hospital for a complete medical evaluation after multiple deŽ nitions by Riccadi. On this basis, they decided to lentiginous lesions were found on her trunk during a further divide segmental NF into 4 possible subsets, i.e., health examination for adults conducted by a local type I, true segmental; type II, localized cases with deep medical association. From birth, this woman has had involvement; type III, hereditary segmental; and type brownish macules on her trunk, right arm, and left leg. IV, bilateral segmental (also classiŽ ed as type VIII NF At the age of 30, numerous rice-sized pigmentations by Riccadi et al.) (3). Many authors have cited Roth’s appeared on her trunk, and she noticed a soft lump on work and generally accept his subsets of segmental NF. her right  ank. The lump gradually increased in size, Our case showed features consistent with the bilateral but she did nothing about it as there was no pain or segmental NF subset, and this is extremely rare. To our itching. No other members of her family or close relatknowledge, only 19 such cases have been reported in ives exhibited a similar condition. Her past history was the English literature (4–6). Lentigines and cafe au lait unremakable, except for a duodenal ulcer and cholecysspots have been recognized together in only 4 cases of titis. Physical examinations revealed a solitary, soft, bilateral segmental NF. Our case is the Ž rst report of reddish, asymptomatic nodule measuring 2 cm in diabilateral segmental NF with cafe-au-lait spots on both meter on her right  ank. A biopsy of the nodule showed sides of the body. typical features of neuroŽ broma. Multiple small, brown Non-cutaneous manifestations of the types that occur lentigines were found on the right side of the upper in generalized NF are uncommon in bilateral segmental back, chest, abdomen, and gluteal region, and on the NF, although the development of non-cutaneous manileft side of the lower back, lower abdomen, and gluteal festations (7), hereditarity links (8), and iris Lisch region. There were 4 cafe-au-lait spots on the left lower nodules (9) has recently been reported in cases of abdomen (Fig. 1a), the right upper arm, and the left segmental NF. gluteal region (Fig. 1b), and the left post-femoral region. In any case, our patient, her family, and relatives There were no detectable abnormalities such as iris need to be followed regularly over the long term, as Lisch nodules on ophthalmological examination, and the development of non-cutaneous manifestations or there were no abnormal neurological Ž ndings. As mild diVerent forms of NF could occur through time. scoliosis was noticed (11-degree scoliosis at T8-L2), the In the pathogenesis of bilateral segmental NF, it is patient consulted the orthopedic department, but the generally accepted that somatic mutations simultanorthopedist explained that there was no remarkable eously occur in the diVerent sites of the body (10). change and no need for treatment. Cecchi et al. have postulated that this is why bilateral Laboratory Ž ndings revealed slightly elevated values segmental NF is extremely rare (11). While the causative of norepinephrine (502 pg/ml ) and alkaline phosphatase genes of NF-1 (12) and NF-2 (13 ) have been identiŽ ed, (234 IU/l ) (normal range: 90–420 pg/ml and 60–201 the roles of these genes in the formation of neuroŽ broIU/l, respectively) , but her blood pressure was within mata and cafe-au-lait spots remain unknown. To clarify