37 下列何者不是第一型神經纖維瘤病（Neurofibromatosis type I）的主要臨床表徵？

黑色素斑（freckles）出現於非曝曬部位

多發且大型的café-au-lait spots

虹彩膜有lisch nodules

指甲周圍或甲下纖維瘤（periungual or subungual fibromas）

D

Neurofibromatosis type 1

Neurofibromatosis type 1 - mutation of neurofibromin chromosome 17q11.2. The diagnosis of NF1 is made if any two of the following seven criteria are met:

• Two or more neurofibromas on the skin or under the skin or one plexiform neurofibroma (a large cluster of tumors involving multiple nerves); Neurofibromas are the subcutaneous bumps that are characteristic of the disease and increase in number with age.
• Freckling of the groin or the axilla (arm pit).
• Café au lait spots (pigmented, most often a shade of brown, smooth edges(coast of California)^[2] birthmarks). Six or more measuring 5 mm in greatest diameter in prepubertal individuals and over 15 mm in greatest diameter in postpubertal individuals
• Skeletal abnormalities, such as sphenoid dysplasia or thinning of the cortex of the long bones of the body (i.e. bones of the leg, potentially resulting in bowing of the legs)
• Lisch nodules (hamartomas of iris), freckling in the iris.
• Tumors on the optic nerve, also known as an optic glioma

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ANS D IS

傳統上係指結節性硬化(tuberous sclerosis)患者，臉上特有之腫瘤，即舊稱之皮脂樣腺瘤（Adenoma sebaceum）。但相同之組織相亦見於鼻子纖維丘疹（Fibrous Papule of the Nose）、陰莖珍珠樣丘疹（Pearly Penile Papule）、指甲下及指甲旁纖維瘤（Subungual & Periungual fibroma）