Accelerated phase of Chediak-Higashi syndrome mimicking lymphoma: A case report.

Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43.

Key words: Chediak-higashi syndrome Hypopigmentation.

Kimball, "Defective granulocyte chemotaxis in the Chediak-Higashi syndrome," Journal of Clinical Investigation, vol.

The hematological findings of pancytopenia and hemophagocytosis suggest a possible deletion in the LYST gene in both of the presented cases, but ethnicity data and complete DNA analysis are needed to further substantiate the findings; nonetheless, both cases presented with the characteristic clinical and hematological profiles diagnostic of Chediak-Higashi syndrome. Careful examination of peripheral blood film in suspected cases can facilitate early diagnosis and further evaluation.

Light microscopy of the hair shaft can show a pattern of melanin distribution virtually pathognomonic for Chediak-Higashi syndrome, in which small clumps of melanin are evenly distributed in contrast to the irregular spread of giant and small melanin clumps in Elejalde.

Molecular genetics of the Hermansky-Pudlak and Chediak-Higashi syndromes. Platelets 1998;9:21-9.

The accelerated phase of Chediak-Higashi syndrome: an expression of the virus-associated hemophagocytic syndrome?

(a) Abnormalities of adhesion (platelet vessel wall interaction/adhesion) VWD Bernard Soulier syndrome (abnormal or absent GP Ib) Abnormalities of platelet aggregation Congenital afibrinogenemia Glanzmann thrombasthenia (abnormal GP Ilb/IIIa) Disorders of platelet release/signal transduction Storage pool disease Deficient dense bodies Hermansky-Pudlak syndrome Chediak-Higashi syndrome Wiskott-Aldrich syndrome Thrombocytopenia with absent radii Deficient [alpha] granules Gray platelet syndrome Deficiency of [alpha] granules and dense bodies Signal transduction defects Abnormal AA pathways Impaired AA release Cyclooxygenase deficiency Thromboxane synthetase deficiency Abnormalities of platelet membrane response Scott syndrome (a) From Rao (2).

She was referred to us with a pre-diagnosis of Chediak-Higashi syndrome as the cause of recurrent infection.

Hemophagocytic syndrome in children should be differentiated from familial HLH, which is characterized by early onset, a higher prevalence of parental consanguinity, and an association with immune deficiencies, such as Chediak-Higashi syndrome, Griscelli syndrome, and X-linked lymphoproliferative syndrome.

Many systemic diseases are associated with advanced alveolar bone loss that may lead to premature loss of teeth, such as hypophosphatesia, Papillon-Lefevre syndrome, histiocytosis X, agranulocytosis, leukocyte adherence deficiency, neutropenias, leukemias, diabetes mellitus, scleroderma, fibrous dysplasia, acrodynia, and Chediak-Higashi syndrome [Armitage, 1999].

Partial albinism is associated with Chediak-Higashi syndrome. It's not always patently obvious, but can show up as muted or silvery hair coloring and patchy skin pigmentation.

The storage pool deficiency in platelets from humans with the Chediak-Higashi syndrome: study of six patients.

Granulocyte function in the Chediak-Higashi syndrome of mice.