着色性干皮病中的眼眶无色素性黑色素瘤：一种罕见的关联。

Orbital amelanotic melanoma in xeroderma pigmentosum: a rare association.

作者信息

Rizvi Syed Ar, Amitava Abadan K, Mehdi Ghazala, Sharma Rajeev, Alam Mohammad S

机构信息

Institute of Ophthalmology, Jawaharlal Nehru Medical College, Aligarh, UP, India.

出版信息

Indian J Ophthalmol. 2008 Sep-Oct;56(5):421-3. doi: 10.4103/0301-4738.42423.

DOI:10.4103/0301-4738.42423

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2636150/

Abstract

Xeroderma pigmentosum (XP) is an autosomal recessive genetic disorder of DNA repair in which the body's normal ability to repair damage caused by ultraviolet light is deficient. This leads to a 1000-fold increased risk of cutaneous and ocular neoplasms. Ocular neoplasms occurring in XP in order of frequency are squamous cell carcinoma, basal cell carcinoma and melanoma. Malignant melanomas occur at an early age in patients with XP. We report a case of XP with massive orbital melanoma in an eight-year-old boy which is unique due to its amelanotic presentation confirmed histopathologically.

摘要

着色性干皮病（XP）是一种常染色体隐性DNA修复基因疾病，患者体内修复紫外线造成损伤的正常能力存在缺陷。这导致皮肤和眼部肿瘤的发病风险增加1000倍。XP患者眼部肿瘤的发病频率依次为鳞状细胞癌、基底细胞癌和黑色素瘤。XP患者的恶性黑色素瘤发病年龄较早。我们报告了一例8岁男孩患XP并伴有巨大眼眶黑色素瘤的病例，该病例因经组织病理学证实为无黑色素表现而具有独特性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cca1/2636150/81c57049bf80/IndianJOphthalmol-56-421-g001.jpg

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本文引用的文献

1

[Ophtalmologic manifestations of the xeroderma pigmentosum].

Tunis Med. 2006 Sep;84(9):542-4.

2

OCULAR MANIFESTATIONS OF XERODERMA PIGMENTOSUM.

Br J Dermatol. 1965 May;77:261-76. doi: 10.1111/j.1365-2133.1965.tb14641.x.

3

Ocular melanomas in xeroderma pigmentosum.

Br J Ophthalmol. 1993 Sep;77(9):597-8. doi: 10.1136/bjo.77.9.597.

4

Oculocutaneous manifestations in xeroderma pigmentosa.

Br J Ophthalmol. 1994 Apr;78(4):295-7. doi: 10.1136/bjo.78.4.295.

5

Immunohistochemical demonstration of S100 protein in malignant melanoma and pigmented nevus, and its diagnostic application.

Cancer. 1982 Sep 1;50(5):912-8. doi: 10.1002/1097-0142(19820901)50:5<912::aid-cncr2820500519>3.0.co;2-u.

6

Xeroderma pigmentosum. An inherited diseases with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair.

Ann Intern Med. 1974 Feb;80(2):221-48. doi: 10.7326/0003-4819-80-2-221.

7

Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases.

Arch Dermatol. 1987 Feb;123(2):241-50. doi: 10.1001/archderm.123.2.241.

8

Malignant melanoma of the iris in xeroderma pigmentosum.

Arch Ophthalmol. 1989 Mar;107(3):402-7. doi: 10.1001/archopht.1989.01070010412036.

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