Frantzenyoung0225
Laugier-Hunziker syndrome is a rare, acquired disorder characterized by mucocutaneous hyperpigmentation and melanonychia striata with no underlying systemic abnormalities. We report an 8-year-old boy with Laugier-Hunziker syndrome who presented with melanonychia striata affecting all the fingernails and toenails, macular pigmentation on the tongue and the lower lip, and scleral melanocytosis. Melanonychia striata rarely affect all the twenty nails, and scleral melanocytosis has rarely been reported in association with Laugier-Hunziker syndrome. Laugier-Hunziker syndrome occurs predominately in adults. Our patient is the youngest reported patient with Laugier-Hunziker syndrome. Copyright © 2020 Alexander K. C. Leung et al.Pediatric acute megakaryoblastic leukemia (AMKL) is a rare subtype of acute myeloid leukemia (AML) that may be divided into two subgroups (1) Down syndrome- (DS-) related AMKL which generally has a favorable prognosis and (2) non-DS-related AMKL which generally has a poorer outcome. We report a phenotypically normal child with AMKL with trisomy 21 (T21) and tetrasomy 21 clones. Subsequently, she was diagnosed with mosaic T21. She underwent reduced-intensity therapy with good outcome. We review the literature regarding AMKL-associated cytogenetic abnormalities and AMKL in association with DS. We suggest evaluation for mosaic T21 in phenotypically normal pediatric patients with T21-positive AML. Copyright © 2020 Eric Won et al.Pneumocystis jirovecii is recognized as an opportunistic pathogen in immunosuppressed patients. We report a case of severe Pneumocystis pneumonia (PCP) in an infant with acquired combined immunodeficiency secondary to maternal chemotherapy exposure during the second and third trimesters of pregnancy. The infant required cardiorespiratory support with veno-venous extracorporeal membrane oxygenation (VV-ECMO) for severe respiratory failure. This case highlights the potential for severe acquired immunodeficiency in this patient cohort and further postnatal surveillance is highly recommended. Copyright © 2020 Adeline Yi Ling Lim et al.Intestinal/enteric heterotopia of the vulva is an extremely rare disease with only 3 cases described in the literature. We report here an unusual case of this disease occurring in a 26-year-old patient in a context of Crohn's disease. To the best of our knowledge, such type of association has not been previously described. The potential origins of these lesions including metaplastic transformation, dysontogenetic changes, or epithelial colonic displacement/implantation are discussed. Copyright © 2020 Jean-Christophe Noël et al.Large cell calcifying Sertoli cell tumors (LCCSCTs) are extremely rare, with less than 100 tumors being described to date. Most of the tumors are benign with a few malignant cases, and aggressive behavior is infrequent. These tumors are a type of Sertoli cell tumor, and these tumors comprise less than 0.3% of all testis tumors in Saudi Arabia. They usually occur in boys and young adults and can affect one or both testicles in multifocal form causing microcalcifications. A 28-year-old male visited our hospital with left testis pain. Physical examination of the scrotum revealed that both testicles were normal sized with no palpable mass. Ultrasonography evaluation revealed grade 3 left varicocele and an incidental 9 mm calcified mass in the right testicle, which was further confirmed by MRI. read more Partial orchiectomy was performed. Clinical data, radiological studies, and morphological and immunohistochemical characteristics were analyzed. Copyright © 2020 Mahmoud Bardisi et al.Lingual osseous choristoma is a rare benign tumor consisting of normal matured bone tissue. It was first reported in 1913, and less than 100 cases of lingual osseous choristomas, mainly in their twenties and thirties, have been reported in the English literature until now. Here, we report an additional case of lingual osseous choristoma, in an elderly patient, that was incidentally removed by coughing and cured without additional interventions. An 89-year-old male patient was referred to our department for an evaluation of chronic cough. When we examined his oral cavity and pharynx, he expectorated a 10 -mm mass which was histologically diagnosed as an osseous choristoma. We confirmed the well-defined, rounded, high-density mass with a tiny pedicle on the base of the tongue in previous cervical spine CT images. No signs of recurrence were found during the 15-month follow-up examination. Our case serves as a reminder of this rare entity in the diagnosis of tongue masses of the elderly. Copyright © 2020 Tomotaka Hemmi et al.Avulsion fracture of the tibial tuberosity is an infrequent injury in adolescents and an extremely rare occurrence in adults. We describe the case of an 86-year-old gentleman presenting after a fall, sustaining injury to the left knee. Radiographs of the left knee showed avulsion fracture of the tibial tuberosity. The purpose of this study was to present a rare case of tibial tuberosity avulsion fracture in an adult, the treatment performed, and the challenges faced. The case is discussed with the review of the literature. Copyright © 2020 Emma Brown et al.Curved periacetabular osteotomy (CPO) is used for the treatment of dysplastic hips. Previous studies have reported satisfying outcomes and low rate of severe complications associated with this procedure; however, no case of postoperative sciatic nerve palsy has been reported. In this study, we describe a case of postoperative sciatic nerve palsy following CPO due to nerve strangulation by scar tissue without direct injury. A female patient had severe buttock pain and posterior leg numbness after she underwent left-side CPO. Postoperative magnetic resonance imaging showed that the sciatic nerve was strangulated by the surrounding soft tissue. There was no bone fragment, active infection, bone necrosis, tumor, or spine disease. Therefore, we diagnosed nerve palsy by soft tissue strangulation, and revision surgery was indicated. During revision surgery, the sciatic nerve was observed to be strangulated by the scarring soft tissue, and the nerve had no mobility. After detachment, the pain and numbness disappeared.