ABSTRACT
Hemophagocytic lymphocytosis (HLH) is a rare clinical and biological entity that can be life-threatening. Early diagnosis can improve the overall prognosis of HLH. OBJECTIVES: The aims of this study are to evaluate the performances of HLH-2004-score and H-score in identifying patients with secondary HLH and to determine an optimal H-score cut-off for our population. METHODS: A retrospective study that involved all patients, with images of hemophagocytosis in myelograms analyzed at the laboratory of hematology, followed at these departments: clinical-hematology, internal-medicine, infectious-diseases and gastroenterology, University-Hospital "Hédi-Chaker", Sfax-Tunisia, (June2017-May2021). We identified two groups of patients: "HLH" and "Not-HLH". Then, for each patient, we calculated the HLH-2004-score and the H-score. RESULTS: Forty-two patients were included in this study. Twenty-five (60 %) belonging to group "HLH" and seventeen (40 %) to group "Not-HLH" with a mean age (38.72 vs. 39.82 years, p = 0.846) respectively. The study of the performances demonstrated that H-score had better performances. The best cut-off value of H-score for our population was 158.5, allowing a gain in sensitivity (from 92 % to 96 %) compared to the original study cut-off of 169. CONCLUSION: Both H-score and HLH-2004-score showed excellent discriminative powers with better performances for H-score. The new H-score cut-off at 158.5 can be applied to our population.
Subject(s)
Lymphohistiocytosis, Hemophagocytic , Humans , Lymphohistiocytosis, Hemophagocytic/diagnosis , Lymphohistiocytosis, Hemophagocytic/complications , Male , Female , Retrospective Studies , Adult , Middle Aged , Prognosis , Aged , Young Adult , Adolescent , Tunisia/epidemiology , Early DiagnosisABSTRACT
Renal amyloidosis is a rare complication of adult onset Still's disease. We here report three cases of renal amyloidosis in a series of 33 cases of adult onset Still's disease. The three patients enrolled had an average age of 43 years (with a range from 33 to 58 years). The diagnosis of Still's disease was retained on the basis of febrile polyarthritis (3 cases) associated with fleeting rush (1 case), biologic inflammatory syndrome in the absence of any infectious, inflammatory or neoplastic causes. All patients were treated with corticosteroids secondarily associated with methotrexate due to destructive polyarthritis (2 cases) and to a recurrence (1 case). Renal amyloidosis had occurred 4.9 years after Still's disease (with a range from 33 months to 7 years). Amyloidosis was revealed by nephrotic syndrome (3 cases) associated with renal failure (1 case). Diagnosis was based on renal puncture biopsy (3 cases) which showed AA amyloidosis (2 cases) and untyped amyloidosis (1 case). All patients received colchicine. Outcome was favorable in a female patient while in the other two patients the disease progressed to chronic renal failure. Renal amyloidosis uncommonly results from adult onset Still's disease. Once the disease gets established it can be life-threatening.
Subject(s)
Amyloidosis/etiology , Nephrotic Syndrome/etiology , Still's Disease, Adult-Onset/complications , Adrenal Cortex Hormones/administration & dosage , Adult , Amyloidosis/diagnosis , Amyloidosis/drug therapy , Biopsy, Needle , Colchicine/administration & dosage , Disease Progression , Female , Humans , Kidney Failure, Chronic/etiology , Methotrexate/administration & dosage , Middle Aged , Renal Insufficiency/etiology , Still's Disease, Adult-Onset/diagnosis , Still's Disease, Adult-Onset/drug therapyABSTRACT
BACKGROUND: Cowden syndrome is a rare genodermatosis charactarized by presence of multiple hamartomas. The aim of the study was to specify the clinical, therapeutic and prognostic aspects of Cowden syndrome. CASES REPORT: Our study included 4 patients with Cowden syndrome, 2 males and 2 females between 14 and 46 years old. Clinical examination of the skin revealed facials papules (4 cases), acral keratosis (1 case), translucent keratotic papules (2 cases). Oral examination revealed papules (4 cases), papillomatosis (4 cases), gingival hypertrophy (4 cases) and scrotal tongue (2 cases). Investigations revealed thyroid lesions (2 cases), fibrocystic disease and lipoma of the breast in 1 case, "glycogenic acanthosis" (1 case), macrocephaly (2 cases), dysmorphic face (1 case) and lichen nitidus (1 case). Oral etretinate and acitretine were temporary efficient in 2 patients. Topical treatment with tretinoin lotion resulted in some improvement in cutaneous, but not mucosal lesions in one patient. No cancer was revealed. CONCLUSION: The pathognomonic mucocutaneous lesions were found in all patients. However, no degenerative lesions have been revealed. A new association of Cowden syndrome with lichen nitidus was found. Treatment with oral retinoids was efficient on cutaneous lesions.
