angiokeratomas

被角血管腫

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2014/06/09 10:44:05」(JST)

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Angiokeratoma
Classification and external resources
ICD-10	D23 (ILDS D23.L74)
ICD-O:	M9141/0
DiseasesDB	31444
MeSH	D000794

Angiokeratoma is a benign cutaneous lesion of capillaries, resulting in small marks of red to blue color and characterized by hyperkeratosis. Angiokeratoma corporis diffusum refers to Fabry's disease, but this is usually considered a distinct condition.

Classification

Angiokeratoma may be classified as:

• Angiokeratoma of Mibelli (also known as "Mibelli's angiokeratoma," "Telangiectatic warts") consists of 1- to 5-mm red vascular papules, the surfaces of which become hyperkeratotic in the course of time. The disease is named after Italian dermatologist Vittorio Mibelli (1860-1910).

• Angiokeratoma of Fordyce (also known as "Angiokeratoma of the scrotum and vulva," though not to be confused with Fordyce's spots) is a skin condition characterized by red to blue papules on the scrotum or vulva.

• Solitary angiokeratoma is a small, bluish-black, warty papule that occurs predominantly on the lower extremities.

• Verrucous vascular malformation (also known as "Angiokeratoma circumscriptum naeviforme") is a malformation of dermal and subcutaneous capillaries and veins, a congenital vascular malformation, which, over time, a verrucous component appears.

Signs and symptoms

Angiokeratoma of Fordyce

Presentation includes telangiectasia, acanthosis, and hyperkeratosis.

Presentation can be solitary or systemic.

Diagnosis

Due to the rarity of different types of vascular conditions, angiokeratomas may be misdiagnosed. A biopsy of the lesion can produce a more accurate diagnosis.

Pathophysiology

Histology

Angiokeratomas characteristically have large dilated blood vessels in the superficial dermis and hyperkeratosis (overlying the dilated vessels).

• Scrotal angiokeratoma; visible large dilated blood vessels and hyperkeratosis

• Scrotal angiokeratoma (Fordyce type); multiple papules made by dilatated capillaries

• Scrotal angiokeratoma (Fordyce type); dilated cavernous capillaries, acanthosis

• Scrotal angiokeratoma (Mibelli type); blood vessels close to the epidermis

• Angiokeratoma (Mibelli type)

Complications

In some instances nodular angiokeratomas can produce necrotic tissue and valleys that can harbor fungal, bacterial and viral infections. Infections can include staphylococcus. If the lesion becomes painful, begins draining fluids or pus, or begins to smell, consult a physician. In these instance a doctor may recommend excision and grafting.

Treatment

Outpatient treatments such as interventional radiology, lasers, and physical therapy are employed to reduce the severity of the vascular lesions. However, in some cases lasers have caused a reaction in the tissue causing it to expand and become exposed to infection. Excision and grafting may be necessary to remove the lesion. Recovery time on such an operation ranges from 3 to 12 weeks depending on location of the graft, healing time and the possibility of complications.

See also

• Fabry disease (i.e. angiokeratoma corporis diffusum)
• Angiokeratoma of Mibelli
• List of cutaneous conditions

References

UpToDate Contents

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• 1. 外陰部病変：形態に基づく鑑別診断 vulvar lesions differential diagnosis based on morphology
• 2. 皮膚病変のダーモスコピー評価 dermoscopic evaluation of skin lesions
• 3. 粘膜病変のダーモスコピー dermoscopy of mucosal lesions
• 4. ファブリー病の臨床的特徴および診断 clinical features and diagnosis of fabry disease
• 5. 心疾患を伴うファブリー病の臨床的特徴、診断、およびマネージメント clinical features diagnosis and management of patients with fabry disease with cardiac disease

English Journal

• Congenital and infantile skin lesions affecting the hand and upper extremity, part 1: vascular neoplasms and malformations.

• Willard KJ, Cappel MA, Kozin SH, Abzug JM.SourceDepartment of Dermatology, Mayo Clinic Florida, Jacksonville, Florida; Shriners Hospital for Children of Philadelphia, Philadelphia, Pennsylvania; and the Department of Orthopaedics, University of Maryland School of Medicine, Baltimore, Maryland.
• The Journal of hand surgery.J Hand Surg Am.2013 Nov;38(11):2271-83. doi: 10.1016/j.jhsa.2013.03.040. Epub 2013 May 23.
• Many dermatologic conditions may be present on a newborn infant's upper extremity that can evoke concern for parents and/or primary caregivers. Although the pediatrician typically remains the first care provider, often these children are referred to specialists to diagnose and treat these lesions. H
• PMID 23707594

• Enzyme replacement therapy in two Japanese siblings with Fabry disease, and its effectiveness on angiokeratoma and neuropathic pain.

• Furujo M, Kubo T, Kobayashi M, Ohashi T.SourceDepartment of Pediatrics, Okayama Medical Center, Okayama, Japan. Electronic address: fuhkun@okayama3.hosp.go.jp.
• Molecular genetics and metabolism.Mol Genet Metab.2013 Nov;110(3):405-10. doi: 10.1016/j.ymgme.2013.07.005. Epub 2013 Jul 14.
• Enzyme replacement therapy (ERT) for Fabry disease does not show a clear benefit in angiokeratoma. We describe two Japanese siblings with Fabry disease, who were diagnosed when angiokeratomas were found on the older sibling at the age of 13 years. Neither of the boys complained of pain, while both s
• PMID 23906479

• Angiokeratoma - When is a few too many?

• O'Mahony C, Franks A, Llewellyn R.SourceDepartment of Sexual Health & HIV, Countess of Chester Hospital, Chester, UK.
• International journal of STD & AIDS.Int J STD AIDS.2013 Oct 8. [Epub ahead of print]
• Many patients have few scattered angiokeratoma and we reassure them that this it is normal; however, if they are numerous, Fabry disease should be considered and check family history.
• PMID 24104692

Japanese Journal

• 舌に発生した被角血管腫の1例

• 星野 真,安藤 智博,中村 加奈子,丸岡 靖史,西原 昇,扇内 秀樹
• 日本口腔外科学会雑誌 48(9), 463-466, 2002-09-20
• … We review the independent occurrence of angiokeratomas in the oral cavity and discuss the clinical and histological features of this unusual lesion. …
• NAID 10010693287

• Argon laser treatment of cutaneous multiple angiokeratomas

• OCCELLA C
• Dermatol Surg 21, 170-172, 1995
• NAID 30010492809

• Fabry's Disease.

• KATO Haruka,SATO Kenichi,HATTORI Susumu,IKEMOTO Suguru,SHIMIZU Mitsuyuki,ISOGAI Yukihide
• Internal Medicine 31(5), 682-685, 1992
• … Other clinical features included severe pain of the extremities and cutaneous angiokeratomas. …
• NAID 130000770071

Related Pictures

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★リンクテーブル★

リンク元	「ファブリー病」
関連記事	「angiokeratoma」

「ファブリー病」

　　[★]

英

Fabry's disease, Fabry disease, Fabry syndrome

同

ファブリー病、Fabry病。アンダーソン・ファブリー病 Anderson-Fabry病

セラミドトリヘキソシド蓄積症 ceramide trihexoside storage disease、びまん性体部被角血管腫 angiokeratoma corporis diffusum

関

リソソーム病、スフィンゴ脂質蓄積症、難病

[show details]

ファブリ病 : 約 2,420 件
ファブリー病 : 約 23,400 件

• 図：NDE.288(皮膚症状)
• 伴性劣性遺伝
• セラミドが蓄積

トリヘキソシルセラミド－－(α-ガラクトシダーゼ A)－→ラクトシルセラミド

=セラミドトリヘキソシド

概念

• 伴性劣性遺伝するスフィンゴ脂質蓄積症。
• 腎、血管系組織に脂質が蓄積し、臓器障害を起こす。
• X染色体長腕Xq22.1にコードされたGLA遺伝子の変異により、ライソゾームの加水分解酵素の1つであるα-ガラクトシダーゼ(α-Gal)の活性低下や欠損により生じるX連鎖性遺伝性疾患である。
• 二次性心筋症の原因としては最多である。35～40歳以上の肥大型心筋症患者の0.5～1.0％にファブリー病が認められる。日本人の心肥大患者におけるファブリー病の頻度については1～3％の報告がある。

病因

• α-ガラクトシダーゼ Aの欠損

遺伝形式

• 伴性劣性遺伝

病変形成＆病理

• 皮膚、心血管系、腎などにPAS陽性物質、すなわちセラミドトリヘキソシド(Galα1→4Galβ1→4Glcβ1→セラミド)が蓄積

症状

• 発症は思春期以降
• 神経症状：発作性/持続性の手足先端の疼痛、異常感覚　←　学童期に発症
• 皮膚症状：外陰部、大腿部発疹　←　真皮小血管の拡張と角質過形成による皮疹(被角血管腫)
• 腎症状　：腎障害、腎不全　←　脂質の地区生による
• 血管障害：心筋障害、角膜の変性

peripheral neuropathy of hands/feet, angiokeratomas, cardiovascular/renal disease(first aid step 1 p.99)

診断

• 男性では血漿、白血球α-Gal活性を測定することで診断される。女性ではX連鎖性であるためにヘテロ接合体となるため、酵素活性だけでは診断ができない場合がある。その場合には家族歴や遺伝子検査などにより判断する。

予後

• 腎不全により死亡することが多い。40歳前後で。

参考

• 1.

http://www.nanbyou.or.jp/entry/325

「angiokeratoma」

　　[★] 被角血管腫、血管角化腫