PURPOSE To study and compare the appearance of hairs from patients with Chédiak-Higashi and Griscelli-Prunieras syndromes under light and polarized light microscopy. METHOD Hairs from 2 Chédiak-Higashi and 2 Griscelli-Prunieras patients were obtained and examined under normal and polarized light microscopy. RESULTS Under light microscopy, hairs from Chédiak-Higashi patients presented evenly...

DOI: 10.5581/1516-8484.20110084 Chédiak-Higashi Syndrome (CHS) is a rare autosomal recessive disorder, with fewer than 500 cases published over the last 20 years.(1) The clinical features of this syndrome include partial oculocutaneous albinism, photosensitivity, grayish hair and skin,(1,2) severe recurrent bacterial infections, bleeding diathesis and neurological manifestations (central and pe...

A 5-month-old Chinese male infant was referred to the University Hospital, Kuala Lumpur for persistent fever, generalised rash and abdominal distension. Clinically he was suspected to have haemophagocytic lymphohistiocytosis. Haematological findings including the presence of several abnormal giant granules in neutrophils and single large azurophilic granules in many lymphocytes and monocytes in...

QCD-TARO Collaboration: Irina Pushkina , Philippe de Forcrand, Margarita Garcia Perez, Seyong Kim, Hideo Matsufuru, Atsushi Nakamura , Ion-Olimpiu Stamatescu, Tetsuya Takaishi and Takashi Umeda School of Biosphere Science, Hiroshima University, Higashi-Hiroshima 739-8526, Japan b Institut für Theoretische Physik, ETH-Hönggerberg, CH-8093 Zürich, Switzerland, and Theory Division, CERN, CH-1211 G...

The genetic and molecular bases of various types of congenital pigmentary disorders have been classified in the past 10 years, as follows: (1) disorders of melanoblast migration in the embryo from the neural crest to the skin: piebaldism; Waardenburg syndrome 1-4 (WS1-WS4); dyschromatosis symmetrica hereditaria. (2) Disorders of melanosome formation in the melanocyte: Hermansky-Pudlak syndrome ...