Hermansky–Pudlak/Chediak–Higashi syndromes

Validation of a method of blood pressure measurement for a study of hypertension in a black African population. Cahiers d'études recherches francophones/santé vasculaire chez l'adulte en milieu rural à Thiadiaye. The prevalence of hyperten-sion and its relationship with obesity: results from a national blood pressure survey in Eritrea. Faciès de l'hypertension artérielle en milieu professionnel au port autonome d'Abidjan. Etude prospective à propos de 220 cas. The common denominator in both of these conditions is albinism. Hermansky–Pudlak syndrome affects the platelets and patients have a tendency to bleed. 1 Chediak–Higashi syndrome affects the leukocytes, results in immune disorders and causes intracytoplasmic inclusions. These latter patients are prone to malignant lymphomas as the immune system is involved. Hermansky–Pudlak symptoms occur due to defects in the melanosomes and the disease affects the lysosomal organelles in the cells, especially the platelet-dense granules. For this reason these patients have a haemorrhagic tendency. Patients with Chediak–Higashi syndrome usually die at an early age. The disease also affects the lysosomal organelles. 2 Chediak–Higashi syndrome is an autosomal recessive disorder, as is Hermansky–Pudlak syndrome. 3 Subtypes of Hermansky–Pudlak disease exist. Chromosomes 3, 5 and 10 are involved. Hermansky–Pudlak is seen predominantly in Puerto Ricans but is also found in the Swiss Alps. In Chediak–Higashi disease, eight known gene allele defects are found, natural killer cells are deficient and the immune system is involved, predisposing patients to lymphomas. In both disorders hair, skin and eye colour are deficient, making albinism the common factor. 3 It can therefore be concluded that both Hermansky–Pudlak and Chediak–Higashi syndromes affect the platelets and white cells, namely the haematological system. A human pigmentary dilution based on a heritable subcellular structural defect – the Chediak–Higashi syndrome.