Low Bone Mass and Recurrent Fractures in Neurofibromatosis With Concomitant Hemoglobin SC Disease.

Bone disease and bone loss are common features in certain monogenic diseases such as RASopathies, including neurofibromatosis (NF). Similarly, bone complications are frequent in hemoglobinopathies, another group of Mendelian diseases. This paper reports a young patient with both NF and hemoglobin SC (HbSC) diseases who had multiple vertebral fractures with osteopenia. We also discuss the cellular and pathophysiological mechanisms underlying both diseases and the factors responsible for bone pain and low bone mass in NF and hemoglobinopathies such as HbSC. This case emphasizes the importance of careful evaluation and management of osteoporosis in patients with HbSC and NF1, as both are relatively common monogenic diseases in certain communities.

Pyoderma Gangrenosum as a Harbinger of Adult T-Cell Leukemia-Lymphoma.

Adult T-cell leukemia-lymphoma (ATLL) is a malignancy of mature T lymphocytes caused by chronic human T-lymphotropic virus, type I (HTLV-I) infection. Up to one third of cases of ATLL can present with skin involvement-oftentimes there may only be skin involvement. Rare cutaneous presentations can further obscure the diagnosis, create diagnostic dilemma, and delay the institution of appropriate therapy. We present a case of ATLL where the initial lesion at presentation was pyoderma gangrenosum (PG). To our knowledge, there are no reported cases of ATLL presenting as PG.

A rare case of isolated laryngotracheal amyloidosis with airway narrowing and vocal fold involvement.

Primary amyloidosis is a rare condition with 6-10 cases in a million, with focal involvement representing 9%-15% of those cases [1,2]. Isolated tracheobronchial amyloidosis is extremely rare and when present, can result in focal or diffuse thickening of the glottis, trachea and bronchi, leading to hoarseness, shortness of breath, and dysphonia. Computed tomography (CT) usually shows circumferential thickening of trachea and bronchi with or without calcifications and associated airway narrowing of affected segments. MRI demonstrates intermediate to low signal on T1, low signal on T2 and variable heterogeneous enhancement. Multiple conditions can result in thickening of the airway including but not limited to inflammatory, infectious, and neoplastic etiologies. Biopsy with histologic correlation provides a definitive diagnosis. Biopsied tissue demonstrates characteristic apple-green birefringence with Congo red stain. There is no cure for amyloidosis and the prognosis is quite variable depending on the extent of airway involvement. Current treatments are aimed at alleviating symptoms and include bronchoscopic debridement, laser therapy, and balloon dilation with adjuvant radiation therapy. Here, we present a rare case of a 47-year-old male with isolated laryngotracheal amyloidosis with marked airway narrowing and vocal fold involvement.

When the Sailor's Handshake Fails: A Case of Syphilitic Hepatitis in an HIV Patient With Nonspecific Liver Biopsy and Atypical Cutaneous Presentation.

Secondary syphilis has variable systemic manifestations, impersonating the presentation of more common pathologies, deceiving clinicians, and creating a difficult-to-diagnose patient. The case discussed combines hepatic syphilis with an uncommon syphilitic dermatologic presentation in a patient with HIV and a history of hepatitis A and B. Due to the challenge of diagnosis, the relative ease of confirming the diagnosis with serological assays, and reversibility of hepatic injury, the inclusion of syphilitic hepatitis on a differential diagnosis of hepatitis is warranted.

Primary Pulmonary Leiomyosarcoma: An Unusual Cause of Pleural Effusion.

Primary pulmonary leiomyosarcomas (PPLs) are extremely rare tumors of the lungs. They can present with non-specific symptoms or can also be asymptomatic with clues towards diagnosis being found on routine examination or radiographs. We present a case of a 54-year-old woman who presented with worsening shortness of breath and spells of dizziness. Her chest radiographs showed right-sided pleural effusion and CT revealed a large enhancing pleural mass with compression atelectasis and mediastinal shift. She underwent a thoracoscopy and right pleural biopsy. Histopathology and immunohistochemistry were most consistent with leiomyosarcoma. An extensive search for a possible primary in other sites was unrevealing, thus diagnosing the patient with PPL. She was managed with surgery and radiotherapy.

An Exceptional Case of Diplopia and Ptosis: Extramedullary Plasmacytoma of the Clivus With Multiple Myeloma.

Intracranial plasmacytoma is an exceedingly rare presentation of plasma cell neoplasms. Usually presenting late in the course of the disease, progression from the presentation can be abrupt. Hence, a low threshold to biopsy the lesion should be maintained during diagnostic evaluation. Multiple myeloma workup should also be sent and treated concomitantly along with local treatment. Here, we present a case of extramedullary plasmacytoma of the clivus leading to progressive visual deficits with undiagnosed multiple myeloma requiring pulse steroids, intracranial irradiation, and high-dose chemotherapy with improvement in symptoms.

A Perplexing Case of Recurrent Abscess-Like Lesions: Insights Into Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type.

Primary cutaneous diffuse large B-cell lymphoma, leg type (PCDLBCL-LT) is one of the rarest forms of primary cutaneous lymphomas (PCLs) and it confers a poor prognosis. Diagnosis of PCDLBCL-LT can be challenging and complex as it can manifest with a myriad of dermatological presentations. However, early treatment with chemo-radiation leads to an appropriate response. We present the case of a 66-year-old female with a history of polymyositis and interstitial lung disease on immunosuppression who presented to our institution with recurrent abscess-like lesions localized to buttocks that were later biopsied and diagnosed as the leg-type variant of PCL. She received chemotherapy with the rituximab plus cyclophosphamide, doxorubicin, vincristine, and prednisone (R-CHOP) regimen and subsequent involved-site radiation therapy (ISRT), which resulted in complete remission. The patient was later followed up and remained in remission for years.

Advanced Squamous Cell Carcinoma of Gall Bladder Masquerading as Liver Abscess With Review of Literature Review on Advanced Biliary Tract Cancer.

Advanced biliary tract carcinoma (ABC) tends to have a poor prognosis, with trials done having limited data from oncologists' perspectives. Squamous cell variant of gallbladder cancer (GBC) is one of the rarest forms of cancer known in the literature, with a very aggressive course and dismal prospects. Herein, we present a case of a 67-year-old man who got diagnosed with squamous cell carcinoma, which initially masqueraded as liver abscess and was associated with severe hypercalcemia, pyrexia, jaundice, and submassive pulmonary embolism.

Ramadan fast in patients with coronary artery disease.

BACKGROUND: Fasting during the month of Ramadan is of vital significance amongst Muslims; however, little is known about the effects of this kind of fasting on patients with coronary artery disease (CAD). OBJECTIVES: This nonrandomized prospective observational pilot study was designed to investigate the effects of Ramadan fast on the symptoms of CAD. PATIENTS AND METHODS: Patients with documented CAD were consecutively (nonrandomized) included in the study, and those with heart failure (ejection fraction < 50%), renal failure, gout, and insulin-treated diabetes were excluded. Patients had the choice of fasting during Ramadan if they so wished and to break their fast as soon as symptoms such as dyspnea and chest pain occurred (fasting group) or not fasting (control group). RESULTS: A total of 148 patients completed the study. Mean (mean ± SD) age of the patients was 61.5 ± 11.7 years and 50% were male. Finally, 66 patients (44.6%) accomplished Ramadan fast with an average of 22.27 ± 10.46 days of fasting. Occurrence of chest pain was not significantly different between the fasting and non-fasting groups (4 out of 66 [6.1%] vs. 8 out of 82 [9.8%] respectively; P = 0.42). In addition, patients who fasted during Ramadan did not experience a higher frequency of a combined endpoint of chest pain and dyspnea (4 out of 66 cases in the fasting group [6.1%] vs. 11 out of 82 in non-fasting group [13.4%]; P = 0.14). CONCLUSIONS: In the present study, the patients with CAD were able to observe Ramadan fast safely and their combined endpoint of chest pain and dyspnea was not significantly different from that of the non-fasting ones. We would suggest that patients with CAD and normal left ventricular function could fast during Ramadan.