Chediak-Higashi Syndrome - A Report of Two Cases with Unusual Hyperpigmentation of the Face

被引：8

作者：

Pujani, Mukta ^{[1
]}

Agarwal, Kiran ^{[1
]}

Bansal, Shashi ^{[1
]}

Ahmad, Israr ^{[1
]}

Puri, Vandana ^{[1
]}

Verma, Deepti ^{[1
]}

Pujani, Meenu ^{[1
]}

机构：

[1] Lady Hardinge Med Coll & Hosp, Dept Pathol, New Delhi, India

来源：

TURKISH JOURNAL OF PATHOLOGY | 2011年 / 27卷 / 03期

关键词：

Chediak-Higashi syndrome; Albinism;

D O I：

10.5146/tjpath.2011.01082

中图分类号：

R36 [病理学];

学科分类号：

100104 ;

摘要：

Chediak-Higashi syndrome is a rare autosomal recessive disorder due to a qualitative defect in leucocyte function characterized clinically by partial oculocutaneous albinism, recurrent bacterial infections, photophobia etc. The diagnostic feature is the presence of abnormal giant intracytoplasmic granules in neutrophils and their precursors. Here we report this syndrome in two siblings who presented with an unusual hyperpigmentation of the face and extremities.

引用

页码：246 / 248

页数：3

共 14 条

[1] Hyperpigmentation in Chediak-Higashi syndrome
Al-Khenaizan, S
[J]. JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 2003, 49 (05) : S244 - S246
[2] BARAK Y, 1987, AM J PEDIAT HEMATOL, V9, P42
[3] CHEDIAK-HIGASHI SYNDROME - STUDIES IN 4 PATIENTS AND A REVIEW OF LITERATURE
BLUME, RS
WOLFF, SM
[J]. MEDICINE, 1972, 51 (04) : 247 - +
[4] Fukai Kazuyoshi, 1993, Journal of Dermatology (Tokyo), V20, P231
[5] Chediak-Higashi syndrome
Kumar P.
Rao K.S.
Shashikala P.
Chandrashekar H.R.
Banapurmath C.R.
[J]. The Indian Journal of Pediatrics, 2000, 67 (8) : 595 - 597
[6] Prakash C, 1990, J Assoc Physicians India, V38, P505
[7] RAO C R, 1989, Indian Journal of Pediatrics, V56, P778
[8] RUBIN CM, 1985, CANCER, V56, P524, DOI 10.1002/1097-0142(19850801)56:3<524::AID-CNCR2820560320>3.0.CO
[9] 2-Z
[10] Seth P, 1982, Indian Pediatr, V19, P950

← 1 2 →