A patient with Wiskott‐Aldrich syndrome who developed Epstein‐Barr virus‐associated haemophagocytic lymphohistiocytosis (EBV‐HLH) is described in this study. At 4 mo of age the patient developed fever associated with bicytopenia and splenomegaly. Analysis of a bone marrow specimen revealed extensive haemophagocytosis, and in situ hybridization for EBV of the bone marrow specimen using an EBV‐encoded RNA probe was positive. Diagnosis of EBV‐HLH was established and immunotherapy with HLH‐94 protocol was started. HLH has been described in patients with other well‐defined primary immunodeficiencies such as X‐linked lymphoproliferative syndrome, Chediak‐Higashi syndrome and Griscelli disease. Also, HLH was reported recently in severe combined immunodeficiency and DiGeorge syndrome. Conclusion: The possibility of an underlying primary immunodeficiency should be considered in paediatric patients who present with HLH during infancy.

A case of chronic primary adrenal insufficiency without hyperpigmentation in a 64-year-old woman is reported. Due to the absence of hyperpigmentation the diagnosis was delayed and she became critically ill. During endocrine evaluation, in order to investigate the mechanism responsible for the absence of hyperpigmentation, skin biopsy was done and hormones responsible for the skin pigmentation were measured. Absence of hyperpigmentation is explained by high degree of melanosome degradation in secondary lysosomes called "compound melanosomes", which overwhelmed increased stimulation of the skin pigmentation. Melanocyte-stimulating hormones were elevated with a strikingly high beta-LPH/ACTH ratio. To our knowledge, this is the first study of pathogenic mechanisms responsible for the absence of hyperpigmentation in white Addison's disease.

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