Delayed Diagnosis of Chronic Necrotizing Granulomatous Skin Lesions due to TAP2 Deficiency.

Major histocompatibility complex class I (MHC-I) deficiency, also known as bare lymphocyte syndrome type 1 (BLS-1), is a rare autosomal recessively inherited immunodeficiency disorder with remarkable clinical and biological heterogeneity. Transporter associated with antigen processing (TAP) is a member of the ATP-binding cassette superfamily of transporters and consists of two subunits, TAP1 or TAP2. Any defect resulting from a mutation or deletion of these two subunits may adversely affect the peptide translocation in the endoplasmic reticulum, which is an important process for properly assembling MHC-I molecules. To date, only 12 TAP2-deficient patients were reported in the literature. Herein, we described two Iranian cases with 2 and 3 decades of delayed diagnosis of chronic necrotizing granulomatous skin lesions due to TAP2 deficiency without pulmonary involvement. Segregation analysis in family members identified 3 additional homozygous asymptomatic carriers. In both asymptomatic and symptomatic carriers, HLA-I expression was only 4-15% of the one observed in healthy controls. We performed the first deep immunophenotyping in TAP2-deficient patients. While total CD8 T cell counts were normal as previously reported, the patients showed strongly impaired naïve CD8 T cell counts. Mucosal-associated invariant T (MAIT) cells and invariant natural killer T (iNKT) cell counts were increased.

Pyodermatitis-pyostomatitis vegetans: a case report and review of literature.

Pyodermatitis-pyostomatitis vegetans is a rare inflammatory dermatosis. There is a strong association between pyodermatitis-pyostomatitis vegetans and inflammatory bowel disease, particularly ulcerative colitis. Herein, we report a case of pyodermatitis-pyostomatitis vegetans with positive direct immunofluorescence staining findings and review the literature for the past 18 years to characterize the disease, its epidemiologic characteristics, its associations, and the pathology and direct and indirect immunofluorescence findings. The total number of cases was 38, including 22 men and 16 women, with an average age of forty. Direct immunofluorescence staining had been performed for 32 patients, of which 12 had positive findings. Of those with positive direct immunofluorescence, 6 patients showed IgA cell surface staining. A recent approach suggests that these immunological findings may not be accidental and indicates a possible overlap with autoimmune bullous diseases discussed in this review.

Garcin syndrome in a case of acquired immunodeficiency syndrome.

In this study, we report a parapharyngeal diffuse large B-cell lymphoma in a human immunodeficiency virus (HIV) infected patient which had caused the patient to suffer from Garcin syndrome.

Meningothelial meningioma of the oculomotor nerve: A case report and review of the literature.

BACKGROUND: The origin of meningioma tumors is known as the meningothelial or arachnoid cap cells. The arachnoid granulations or villi are concentrated along with the dural venous sinuses in the cerebral convexity, parasagittally, and sphenoid wing regions. The majority of meningiomas are found in these locations with dural attachment. Infrequently, meningiomas develop without dural attachment but in dural adjacent. There are numerous reports of patients with cranial nerve involvement as a result of the compressive effect of the sinus cavernous or adjacent structures meningioma tumor on the cranial nerve. CASE DESCRIPTION: In this study, we reviewed all reports of patients with third nerve involvement as a result of meningioma tumors in addition to the introduction of a new case. We present a 47-year-old woman presented with headache, diplopia, and ptosis. A gadolinium-enhanced mass on anterolateral of the left cerebral peduncle with no dural attachment was suggesting for Schwannoma at preoperative imaging. An adhesive 10 × 5 × 4 mm meningothelial meningioma arising from the oculomotor nerve was resected. CONCLUSION: The findings of this review suggest that there may be other mechanisms as the origin of meningiomas tumors. It is crucial to take into account origination mechanisms of meningioma using ectopic meningiomas due to the increasing prevalence of meningioma.

Pineal Region Tuberculoma Caused by Mycobacterium bovis as a Complication of Bacille Calmette-Guérin Vaccine: Case Report and Review of the Literature.

BACKGROUND: Brain tuberculoma is a rare manifestation of tuberculosis especially in immunosuppressed patients. The definitive diagnosis may be difficult owing to mimicking brain tumors and the absence of the common presentation. Bacille Calmette-Guérin (BCG) vaccine is used for protection against tuberculous meningitis and miliary disease, more so in children, and also for the treatment of bladder cancer. CASE DESCRIPTION: The following case of brain tuberculoma is a boy aged 6 months who was presented to our hospital with poor feeding, nausea and vomiting, and confusion lasting 1 month. A brain magnetic resonance imaging scan showed a large mass lesion in the pineal region with generalized hydrocephaly in which polymerase chain reaction assays of the tissue was positive for Mycobacterium bovis and had a good response to antituberculosis drugs and surgery. CONCLUSIONS: We present a case of brain tuberculoma as the complication of BCG vaccine. To our knowledge, this case is the first case of brain tuberculoma after BCG vaccination. We should consider brain tuberculoma that presents with a similar presentation in any infants with a history of BCG vaccination.

A Case Report of Calcifying Pseudoneoplasm of the Neuraxis: An Incidental Finding After a Car Accident.

Calcifying pseudoneoplasms of the neuraxis are rare, poorly understood lesions that can occur anywhere in the central nervous system without any age or sex predilection. Their pathogenesis is still controversial. Patients can present with various symptoms due to lesion location and only few cases have been discovered incidentally. We present a 25-year-old male referred to our hospital after a car accident. Computed tomography scan and magnetic resonance imaging was done because of the patient's head trauma and a calcified intracranial lesion was found and excised surgically. Pathologic evaluation of the specimen was consistent with the diagnosis of calcifying pseudoneoplasm of the neuraxis.

Plexiform Schwannoma of the Finger: A Case Report and Literature Review.

A 49-year-old woman with a long history of a subcutaneous mass on the dorsal side of her 4th finger of the right hand visited a dermatologist because of slight enlargement of the mass. Her past medical history was notable only for a mitral valvuloplasty performed 20 years earlier. Physical examination revealed a small, round, firm subcutaneous mass on the dorsal side of her proximal interphalangeal joint of the right 4th finger. The mass was immobile and nontender and its overlying skin was intact. An excisional biopsy was done for the patient and the specimen was sent for pathologic evaluation. On microscopic examination, the final diagnosis of plexiform schwannoma was made for the lesion. The aim of this publication is to report a rare case of plexiform schwannoma of the soft tissue and a literature review to provide a better understanding about its characteristics including epidemiologic factors and pathologic evaluation.

Demographic study of pituitary adenomas undergone trans-sphenoidal surgery in Loghman Hakim Hospital, Tehran, Iran 2001-2013.

BACKGROUND: Pituitary adenomas (PAs) are abnormal benign tumors that develop in the pituitary gland. This study aimed to assess the prevalence of different types of PAs with an indication for trans-sphenoidal surgery in a well-defined population referred to Loghman Hakim Hospital during 2001-2013. SUBJECTS AND METHODS: In this retrospective study, the prevalence rate and symptoms associated with pituitary mass and hormone excess in operated patients were investigated. The diagnosis was verified after retrieval of clinical, hormonal, radiological, and pathological data. Demographic data were collected in all cases. Descriptive analysis, t-test, one-way analysis of variance and Fischer exacts test were used. RESULTS: A total of 278 patients with PAs who underwent surgical interventions were evaluated. Most of the patients were aged 40-50 years with an average of 41 ± 14. The most prominent complaint was pressure effect, which was detected in 153 cases (55.2%). At the second place, hormonal disorders were observed in 125 cases (44.8%). Type of pituitary tumors were: Prolactinomas (29.1%), growth hormone (GH)-producing tumors (25%), nonfunctioning PAs (28.4%), adrenocorticotropic hormone (ACTH)-producing tumors (2.1%), thyroid stimulating hormone (TSH)-producing tumors (0.7%), GH/prolactin (13.6%), GH/ACTH (0.3%), and TSH/ACTH (0.3%). Fifty-seven patients presented with recurrent adenomas. Pituitary apoplexy was found in 11 patients. One case of Sheehan syndrome was recorded among these. The correlations between clinical symptoms and patients, age and sex were not significant. CONCLUSION: The overview of demographic characteristics in Iranian patients with PAs with surgical indication has been discussed in the present investigation. The prevalence of different types of PAs and the most common clinical symptoms have been demonstrated.