Segmental Dilatation of Ileum Involving Bronchogenic Cyst in a Newborn.

Objective: Congenital segmental intestinal dilatation (SID) and bronchogenic cyst in the abdomen are two uncommon and different pathologies. We report a bronchogenic cyst associated with segmental intestinal dilatation. Case: A 2-day-old 3300 g term infant developed bilious vomiting. A jejunoileal segment with a diameter of 10 cm was detected at surgery. Histologically, the wall musculature and enteric plexus of the segmentally enlarged small intestine stained normally for CD117 and negative for calretinin. A bronchogenic cyst of 3 cm in diameter was centered on the mesenteric border of the dilated intestine. Conclusion: SID has a normal staining pattern for CD117 (for interstitial cells of Cajal) and negative for calretinin. it would suggest that the innervation is defective, may be associated with a bronchogenic cyst in the newborn, causing obstruction, requiring surgery.

Aplastic Anemia as an Immune-mediated Complication of Thymoma: A Case Report.

Thymomas are the most common masses located in the anterior mediastinum, and they are often associated with autoimmune disorders including myasthenia gravis, polymyositis, and aplastic anemia (AA). Autoreactive T-cell clones generated by the thymoma may lead to autoimmune disorders. We report the case of a 14-year-old boy who was examined for AA, and the underlying cause was determined to be an immune-mediated complication of thymoma. He had no matched sibling donors. He underwent thymectomy, and 3 months later he was treated with immunosuppressive therapy (IST), consisting of antithymocyte globulin and cyclosporine A. The duration of the IST was determined to be a period of 12 months. He has recently been in complete response condition for 6 months since IST stopped. IST is a successful treatment choice for thymomas associated with AA in childhood.

LATE-ONSET SELF-HEALING LANGERHANS CELL HISTIOCYTOSIS: REPORT OF A VERY RARE ENTITY. / HISTIOCITOSE DE CÉLULAS DE LANGERHANS AUTOLIMITADA E DE INÍCIO TARDIO: RELATO DE UMA ENTIDADE RARÍSSIMA.

OBJECTIVE: To report a case of late-onset self-healing Langerhans cell histiocytosis. CASE DESCRIPTION: A 4½-month-old female patient presenting with an eythematopurpuric eruption underwent a skin biopsy for histopathology and was first diagnosed with isolated cutaneous Langerhans cell histiocytosis. Her lesions regressed within a few months and she was retrospectively diagnosed with late-onset self-healing Langerhans cell histiocytosis after being without skin or systemic involvement in a follow-up four years later. COMMENTS: Self-healing Langerhans cell histiocytosis, which is characterized by clonal proliferation of Langerhans cells and presents with cutaneous lesions, is a rare self-limited variant of histiocytosis and can only be diagnosed retrospectively, after the patient remains free from systemic involvement for several years. Although it presents at birth or during the neonatal period, only a few cases of its late-onset type regarding the age of onset have been reported. Purpuric lesions that appear after the neonatal period serve as a clue for late-onset self-healing Langerhans cell histiocytosis and the patients should be monitored regularly for systemic involvement if the diagnosis is confirmed by a cutaneous biopsy.

OBJETIVO: Relatar um caso de histiocitose de células de Langerhans autolimitada e de início tardio. DESCRIÇÃO DO CASO: Paciente com 4 meses e meio de idade do sexo feminino, apresentando uma erupção cutânea eritematosa purpúrea, foi submetida a uma biópsia de pele, sendo diagnosticada com histiocitose de células de Langerhans cutânea isolada. As lesões regrediram em poucos meses e ela foi diagnosticada, retrospectivamente, com histiocitose de células de Langerhans autolimitada e de início tardio, após não apresentar nenhum envolvimento cutâneo ou sistêmico durante um seguimento de quatro anos. COMENTÁRIOS: A histiocitose de células de Langerhans autolimitada caracteriza-se pela proliferação clonal das células de Langerhans e apresenta-se com lesões cutâneas, sendo uma variante autolimitada rara de histiocitose. A doença só pode ser diagnosticada de forma retrospectiva, após o paciente não apresentar nenhum envolvimento sistêmico durante vários anos. Embora existam casos de manifestações ao nascimento ou durante o período neonatal, apenas alguns casos de histiocitose de células de Langerhans de idade tardia foram relatados. Lesões purpúreas que aparecem após o período neonatal podem sugerir histiocitose de células de Langerhans autolimitada e de início tardio. Uma vez confirmado o diagnóstico por biópsia cutânea, tais pacientes devem ser acompanhados regularmente, pois pode haver comprometimento sistêmico.

HISTIOCITOSE DE CÉLULAS DE LANGERHANS AUTOLIMITADA E DE INÍCIO TARDIO: RELATO DE UMA ENTIDADE RARÍSSIMA / LATE-ONSET SELF-HEALING LANGERHANS CELL HISTIOCYTOSIS: REPORT OF A VERY RARE ENTITY

RESUMO Objetivo: Relatar um caso de histiocitose de células de Langerhans autolimitada e de início tardio. Descrição do caso: Paciente com 4 meses e meio de idade do sexo feminino, apresentando uma erupção cutânea eritematosa purpúrea, foi submetida a uma biópsia de pele, sendo diagnosticada com histiocitose de células de Langerhans cutânea isolada. As lesões regrediram em poucos meses e ela foi diagnosticada, retrospectivamente, com histiocitose de células de Langerhans autolimitada e de início tardio, após não apresentar nenhum envolvimento cutâneo ou sistêmico durante um seguimento de quatro anos. Comentários: A histiocitose de células de Langerhans autolimitada caracteriza-se pela proliferação clonal das células de Langerhans e apresenta-se com lesões cutâneas, sendo uma variante autolimitada rara de histiocitose. A doença só pode ser diagnosticada de forma retrospectiva, após o paciente não apresentar nenhum envolvimento sistêmico durante vários anos. Embora existam casos de manifestações ao nascimento ou durante o período neonatal, apenas alguns casos de histiocitose de células de Langerhans de idade tardia foram relatados. Lesões purpúreas que aparecem após o período neonatal podem sugerir histiocitose de células de Langerhans autolimitada e de início tardio. Uma vez confirmado o diagnóstico por biópsia cutânea, tais pacientes devem ser acompanhados regularmente, pois pode haver comprometimento sistêmico.

ABSTRACT Objective: To report a case of late-onset self-healing Langerhans cell histiocytosis. Case description: A 4½-month-old female patient presenting with an eythematopurpuric eruption underwent a skin biopsy for histopathology and was first diagnosed with isolated cutaneous Langerhans cell histiocytosis. Her lesions regressed within a few months and she was retrospectively diagnosed with late-onset self-healing Langerhans cell histiocytosis after being without skin or systemic involvement in a follow-up four years later. Comments: Self-healing Langerhans cell histiocytosis, which is characterized by clonal proliferation of Langerhans cells and presents with cutaneous lesions, is a rare self-limited variant of histiocytosis and can only be diagnosed retrospectively, after the patient remains free from systemic involvement for several years. Although it presents at birth or during the neonatal period, only a few cases of its late-onset type regarding the age of onset have been reported. Purpuric lesions that appear after the neonatal period serve as a clue for late-onset self-healing Langerhans cell histiocytosis and the patients should be monitored regularly for systemic involvement if the diagnosis is confirmed by a cutaneous biopsy.

A child with subcorneal pustular dermatosis responded to IVIG treatment (Sneddon-Wilkinson disease).

Subcorneal pustular dermatosis (SPD) is a rare, chronic, recurrent dermatosis characterised by sterile pustules. It develops mainly in middle-aged or elder women, but is also rarely seen in children. The exact aetiology of the disease is unknown. In literature, cases associated with IgA gammopathy have been reported. In this article; we report a case of a five-year-old girl who was diagnosed as SPD by clinical features, histopathological characteristics, and direct immunofluorescence analysis results. IgA was high, and IgG-IgM and CD19+ B cell were low. We noticed that during IVIG treatment for immunodeficiency, dermatological symptoms were recovered rapidly. Clinical profile of SPD and its association with systemic diseases may provide early detection of immune dysfunction.

The experience of canakinumab in renal amyloidosis secondary to Familial Mediterranean fever.

INTRODUCTION: Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by self-limited recurrent attacks of fever and serositis. Patients may develop renal amyloidosis. Colchicine prevents attacks and renal amyloidosis. Five to 10 % of the patients with FMF are resistant or intolerant to colchicine. CASE DESCRIPTION: Herein, we reported our experience with clinical-laboratory features and treatment responses of a pediatric FMF patient with amyloidosis treated with canakinumab. We observed a significant decrease in proteinuria and increase growth in the patient. DISCUSSION AND EVALUATION: The most serious complication of FMF is the development of AA type amyloidosis which is characterized by proteinuria. Colchicine is the prototype drug that decreases production of amyloidogenic precursor protein. Occasionally, colchicine inadequate patient is observed, as in our case. Canakinumab is a human anti-IL-1ß monoclonal antibody. Previously, canakinumab efficacy were shown in a limited number of studies. CONCLUSIONS: Our data, though limited to only one patient, emphasize that therapeutic intervention with canakinumab seems to be improve kidney function in colchicine-resistant FMF with renal amyloidosis.

A new variation of urethral duplication.

Urethral duplication is a rare congenital anomaly. This case study intends to define a new anatomic variation of an accessory urethra. The case is a 5-year-old boy who presented with dorsal chordee requiring operative intervention. At surgery, an accessory urethra on the dorsum of the penis was detected. It was observed that the distal part of the accessory urethra had no external opening and the proximal part had no connection with the native urethra. The accessory urethra was completely excised without complication. To our knowledge, this type of accessory urethra is the first reported case in the English literature.

Alternative prognostic factors in pediatric embryonal rhabdomyosarcoma: Nm23 expression, proliferative activity and angiogenesis.

Possible clinical relevance of Nm23 expression, angiogenesis and proliferative activity were evaluated as prognostic parameters in childhood embryonal rhabdomyosarcoma (RMS). Specimens of 25 RMS cases were studied for Nm23 antigen immunohistochemically. Vascular surface density (VSD) and number of vessels per stroma (NVES) calculated by stereologic methods on labeling sections with CD34 antibody. For evaluation of proliferative activity of tumors, mitotic figures and Ki67 positive cells were investigated. All findings were searched statistically. Five patients were stage 1 (20%), two were stage 2 (8%), 15 were stage 3 (60%) and three were stage 4 (12%). The mean event free survival (EFS) was 20.8 and the mean overall survival (OS) was 25.9 months. Sixteen patients (64%) were alive and without disease. The percentage of Nm23 positivity was 52%. Log rank analysis showed Nm23 as a predictor for survival (p=0.0313). In Pearson correlation analysis, there was statistical significance between OS and presence of Nm23 expression (p=0.044). VSD was also positively related with EFS (p=0.040). Despite the present parameters in use, there is a need for new prognostic markers, especially to predict the outcome of patients. These findings suggested that Nm23 expression and VSD might be useful for follow-up in RMS.