A unique case of hereditary bilateral segmental neurofibromatosis on the face

Abstract

Segmental neurofibromatosis is a rare clinical finding generally with no family history and facial involvement. There are four subtypes of segmental neurofibromatosis: true segmental, localized cases with deep involvement, hereditary segmental and bilateral segmental neurofibromatosis. Here we report three patients from the same family (father, son and granddaughter) with segmental bilateral neurofibromatosis on the face. This form hasn't noticed in the literature.

A Case of Segmental Neurofibromatosis

“…In the literature patients with neurofibromas on face and extremities have been reported. 6,7 Segmental neurofibromatosis is mostly seen in Caucasian women in twenties. 8 It is usually unilateral but some cases with bilateral lesions have been reported.…”

“…term 'segmental neurofibromatosis'. 6 In 1982, Richardi classified neurofibromatosis into eight groups and termed segmental neurofibromatosis as NF type 5. According to his classification, segmental neurofibromatosis was characterized with cafe-aulait macules and/or axillary freckling and/or neurofibromas in a single unilateral region of the body with no family history and systemic involvement.…”

“…According to his classification, segmental neurofibromatosis was characterized with cafe-aulait macules and/or axillary freckling and/or neurofibromas in a single unilateral region of the body with no family history and systemic involvement. 5,6 Then, in 1987 Roth et al divided the disease into four subtypes: true segmental type (Richardi type 5), localized type with deep involvement, hereditary type and bilateral type. 6 …”

“…5,6 Then, in 1987 Roth et al divided the disease into four subtypes: true segmental type (Richardi type 5), localized type with deep involvement, hereditary type and bilateral type. 6 …”

Bilateral Segmental Neurofibromatosis on the Face

“…The affected dermatomes were the cervical (31 patients), thoracic (33 patients), lumbar (20 patients), and sacral (5 patients) dermatomes. To date, only nine cases of segmental neurofibromatosis on the face have been reported in the English literature 3 , 4 , 5 ( Table 1 ). To our best knowledge, this is probably the first reported case in the Korean literature of segmental neurofibromatosis involving the face.…”