von Recklinghausen氏病

12 一位十二歲男童因被診斷背部惡性周圍神經髓鞘瘤（malignant peripheral nerve sheath tumor）來診，經身體檢查發現有超過十處的牛奶咖啡斑（café-au-lait spot）及皮下隆起物。經詢問，父親及姊姊也同樣有牛奶咖啡斑及皮下隆起物。該男童及其父親、姊姊最可能罹患下列那一種疾病？

McCune Albright症候群 Beckwith-Wiedemann症候群

von Recklinghausen氏病 結節性硬化症（tuberous sclerosis）

i hate the taiwan board!!!!! why cant you make our life easier????? these stupid egoistic doctors! one day if i am going to discover a new disease, i will name it ahjdsfasyopt type 1 disease...... what does that mean? nothing. i just want to make your life miserable!!!!

von recklinghausen is also know as neurofibromatosis type 1:

must knows:

- long arm of chromosome 17

- pigmented spots are irregular in shape with relatively even borders, vary in size,

- brownish coffe color(caf� au lait).

They are most proeminent over the trunk, in the axilla(axillary freckles), and about the pelve.

The tumors are usually multiple and vary in size from minute lesions to large tumors. The majority are smoothly rounded or lobulated, and can sometimes be seen or felt along the course of peripheral nerves. Often they sink into the subcutaneous fat on gentle pressure. They are also more frequent over the trunk.

Plexiform neurofibromas may grow a lot, leading to grotesque overgrowth of soft tissue and bone in a limb or around the orbit. Below is shown a photo of a patient with NF1

Diagnosis

The diagnosis of NF1 is not a difficult one beeing evident on clinical grounds. In Table 1 are listed Neurofibromatosis' diagnostic criteria.

A patient meeting two or more of the following criteria can be diagnosed as suffering from NF 1
1 - Neurofibromas - Two or more, or one plexiform neurofibroma 2 - Caf�-au-lait macules - Six or more measuring 1,5 cm in their greatest dimension 3 - Freckling - In the axillary or inguinal areas 4 - Optic glioma 5 - Iris hamartomas(Lisch nodules) - Two or more 6 - Sphenoid dysplasia or thinning of the cortex of the long bones 7 - First-degree relative

Neurofibromatosis 2

Neurofibromatosis 2(NF2) is an autosomal dominant disorder localized to chromosome 22(long arm) and characterized by bilateral acoustic neurofibromas and often other intracranial tumors such as meningiomas and ependymomas.

This disease has a prevalence of 0.1 per 100.000 and family members at risk should be screene regularly with hearing tests and brain stem auditory evoked responses.