詳しくは ― 日本人

Cutaneous angiofibromas は体のさまざまな部位に出現することがあります。顔にできるものは線維性丘疹または皮脂腺腫としてよく知られています。陰茎にできるものは pearly penile papules と呼ばれます。爪の下にできるものは爪周囲血管線維腫（ケーネン腫瘍）と呼ばれます。口腔内にできるものは口腔線維腫と呼ばれます。顔面血管線維腫は、皮膚、腎臓、心臓、脳、肺に影響を及ぼす遺伝性疾患である tuberous sclerosis (TS) の顕著な所見です。通常、TS 患者では小児期または成人初期に顔に発生します。3 個以上の顔面血管線維腫、または 2 個以上の爪周囲血管線維腫が認められると、TS の診断に重要な手がかりとなります。さらに、multiple endocrine neoplasia type 1 (MEN-1) や Birt-Hogg-Dubé syndrome でも、複数の顔面血管線維腫がみられることがあります。pearly penile papules は陰茎の冠状縁や溝に沿って見られ、割礼を受けていない男性に多く見られる、痛みのない持続性の隆起です。
Cutaneous angiofibromas can be located on different areas of the body including the face where they are commonly called fibrous papules or adenoma sebaceum on the penis where they are called pearly penile papules, underneath the nail where they are called periungual angiofibromas or Koenen tumors, and in the mouth where they are called oral fibromas. Facial angiofibromas are considered one of the most obvious clinical presentations of tuberous sclerosis (TS), an autosomal dominant hamartomatous disorder that affects the skin, kidneys, heart, brain, and lungs. With TS, angiofibromas typically arise on the face in childhood and early adulthood. Both facial angiofibromas (greater than or equal to 3 needed) and periungual angiofibroma (greater than or equal to 2 needed) are 2 of the major criteria for TS. Multiple facial angiofibromas are also found in multiple endocrine neoplasia type 1 (MEN-1) and Birt-Hogg-Dube syndrome. Pearly penile papules are chronic, asymptomatic, papules found on the coronal margin and sulcus of the penis. They are more common in uncircumcised men.