Macular Amyloidosis and Epstein-Barr Virus

Background. Amyloidosis is extracellular precipitation of eosinophilic hyaline material of self-origin with special staining features and fibrillar ultrastructure. Macular amyloidosis is limited to the skin, and several factors have been proposed for its pathogenesis. Detection of Epstein-Barr virus (EBV) DNA in this lesion suggests that this virus can play a role in pathogenesis of this disease. Objective. EBV DNA detection was done on 30 skin samples with a diagnosis of macular amyloidosis and 31 healthy skin samples in the margin of removed melanocytic nevi by using PCR. Results. In patients positive for beta-globin gene in PCR, BLLF1 gene of EBV virus was positive in 23 patients (8 patients in case and 15 patients in the control group). There was no significant difference in presence of EBV DNA between macular amyloidosis (3.8%) and control (23.8%) groups (P=0.08). Conclusion. The findings of this study showed that EBV is not involved in pathogenesis of macular amyloidosis

Griscelli Syndrome: A Case Report

How to Cite This Article: Mansouri Nejad SE, Yazdan panah MJ, Tayyebi Meibodi N, Ashrafzadeh F, Akhondian J, BeiraghiToosi M, Eslamieh H. Griscelli Syndrome: A Case Report. Iran J Child Neurol. 2014 Autumn;8(4): 72-75.ObjectiveGriscelli syndrome (GS) is a rare autosomal recessive immune deficiency disorder that presents with pigmentary dilution of the skin and hair, recurrent skin and pulmonary infections, neurologic problems, hypogammaglobulinemia, and variable cellular immunodeficiency. Three mutations have been described in different phenotypes of the disease. In most of cases, GS leads to death in the first decade of life. In this article, we report a one-year-old child with type 2 GS who suffers from pigmentation disorder and hypogammaglobulinemia.ReferencesKharkar V, Pande S, Mahajan S, Dwiwedi R, Khopkar U. Griscelli syndrome: a new phenotype with circumscribed pigment loss? Dermatol Online J 2007 1;13(2):17.Sheela SR, Latha M, Susy JI. Griscelli syndrome: Rab 27a mutation. Indian Pediatrics 2004; 41:944-947.González Carretero P, Noguera Julian A, Ricart Campos S, Fortuny Guasch C, Martorell Sampol L. Griscelli-Prunieras syndrome: report of two cases. An Pediatr (Barc) 2009 ; 70(2):164-7.Szczawinska-Poplonyk A, Kycler Z, Breborowicz A, Klaudel-Dreszler M, Pac M, Zegadlo-Mylik M, et al. Pulmonary lymphomatoid granulomatosis in Griscelli syndrome type 2. Viral Immunol 2011 Dec;24(6):471-3.Durmaz A, Ozkinay F, Onay H, Tombuloglu M, Atay A, Gursel O, et al. Molecular analysis and clinical findings of Griscelli syndrome patients. J Pediatr Hematol Oncol 2012 Oct;34(7):541-4.Reddy RR, Babu BM, Venkateshwaramma B, Hymavathi Ch. Silvery hair syndrome in two cousins: Chediak-Higashi syndrome vs Griscelli syndrome, with rare associations. Int J Trichology 2011; 3(2):107-11.Sahana M, Sacchidanand S, Hiremagalore R, Asha G. Silvery grey hair: clue to diagnose immunodeficiency. Int J Trichology 2012;4(2):83-5.Mahalingashetti PB, Krishnappa MH, Kalyan PS, Subramanian RA, Padhy S. Griscelli syndrome: hemophagocytic lymphohistiocytosis with silvery hair. J Lab Physicians 2012 Jul;4(2):129-30.Schuster F, Stachel DK, Schmid I, Baumeister FA, Graubner UB, Weiss M, et al. Griscelli syndrome: report of the first peripheral blood stem cell transplant and the role of mutations in the RAB27A gene as an indication for BMT. Bone Marrow Transplant 2001; 28:409-12.Shamsian BS, Nikoufar M, Esfahani SA, Shamshiri AR, Arzanian MT, Alavi S, et al. A 10-year single center survey of pediatric patients with histiocytic disorders in Iran. Turk J Pediatr 2011; 53(1):34-42.

No evidence of human papilloma virus infection in basal cell carcinoma

Background: Basal cell carcinoma (BCC) is the most common skin cancer among whites, and several risk factors have been discussed in itsdevelopment and progress. Detection of human papilloma virus (HPV) deoxyribonucleic acid (DNA) BCCs in some studies suggests that the virus may play a role in the pathogenesis of this disease. Several molecular studies showed conflicting reports. Aims: The purpose of this study was to investigate the association between HPV and BCC using polymerase chain reaction (PCR). Materials and Methods: HPV DNA detection was done for 42 paraffin-embedded tissue specimens of BCC and 42 normal skin samples around the lesions by PCR using GP5+/GP6+ primers. Results: HPV DNA was not found in any of the 42 samples of BCC, and only one normal skin sample around the lesions was positive for HPV DNA by PCR. Conclusion: In this study, no statistically significant difference was seen between the presence of HPV DNA in BCC and normal skin around the lesion, and HPV is not likely to have an important role in pathogenesis of BCC

No evidence of human papillomaviruses in non-genital seborrheic keratosis

Background: Seborrheic keratosis (SK) is a benign epidermal tumor of unknown etiology. Because of its wart-like morphology, Human papillomaviruses (HPVs) have been suggested as a possible causative agent. Viral involvement, however, has not been confirmed yet despite research and the association between HPVs and seborrheic keratosis has not been studied among Iranian population by PCR. Objectives: The aim of this case-control study was to evaluate the presence of HPVs DNA in non-genital SK by PCR. Materials and Methods: Fifty biopsy specimens obtained from patients with non-genital SK and 50 controls were analyzed using polymerase chain reaction (PCR). Results: No HPVs DNA was detected by PCR within the tissue extracts from paraffin-embedded SK samples, while one of the controls was HPVs DNA positive. The age range of the patients was 20 to 82 yrs (mean = 52). Twenty-eight patients (56%) were males and 22 patients (44%) were females. The most common anatomic site was the face. Histopathologic changes due to viral infection such as koilocytosis (10%), dyskeratosis (66%), mitosis (28%), and parakeratosis (88%) were evident within the lesions. The most common histologic type was acanthotic type. Conclusion: Our results showed that there is no association between HPVs and seborrheic keratosis in investigated subjects

Infective Endocarditis Presented as a Right Atrium Mass in a Patient with Ulcerative Colitis

Involvement of the heart is infrequently seen in irritable bowel syndrome (IBD). We present a case of severe acute infective endocarditis diagnosed as ulcerative colitis in further workup

Case Report Infective Endocarditis Presented as a Right Atrium Mass in a Patient with Ulcerative Colitis

Involvement of the heart is infrequently seen in irritable bowel syndrome (IBD). We present a case of severe acute infective endocarditis diagnosed as ulcerative colitis in further workup