H syndrome is a systemic inherited autosomal recessive histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations and a most common genetic mutation (OMIM 612391) as SLC29A3. The term “H Syndrome” is representative of presentation with hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and, occasionally, hyperglycemia. H syndrome is new and growing entity in medicine. This syndrome is not specific to a region or a nationality. There are very few treatment experiences on H Syndrome patients and most of them are unsatisfactory apart from hypertrichosis, which is able to treat almost permanently by hair removal lasers. Latest findings suggest that there is possibility of prevention of short stature or other cutaneous or systemic complications in this syndrome with earlier diagnosis and treatment. We searched Medline, Scopus, Web of Sciences, and Google Scholar, up to now and reviewed previous published papers with emphasis on treatment methods and its effects on certain common symptoms.
Introduction Neuroendocrine tumors (NETs) are heterogeneous group of malignant neoplasms arising from neuroendocrine cells distributed throughout the body. The most common sites of NETs are the gastrointestinal tract, pancreas and lungs which account for 82% of all NET cases. Other NET sites are those arising in the parathyroid, thyroid, adrenal, and pituitary glands. Rare NET sites include biliary, prostate, breast, head, and neck. Only a few cases report have been documented in the spinal cord as primary site of origin. Here we present a neuroendocrine tumor case arising from the cervical spinal cord. Clinical Case A 60-year-old male presented with posterior cervicalgia and left side facial, neck and shoulder paresthesia. A magnetic resonance imaging (MRI) of the head and cervical spine was performed and demonstrated an heterogenous, non-enhancing mass in the lower brain stem/upper cervical cord. An intramedullary 1.2×1.3×3.4 cm mass was identified with edema surrounding the mass. An MRI of the thoracic and lumbar spine was unremarkable. A fluorodeoxyglucose (FDG)-positron emission tomography (PET)- PET/CT scan only demonstrated a hypermetabolic lesion at the upper cervical spine. A posterior craniotomy and C1 laminectomy was performed with resection of the mass. Surgical pathology revealed a Grade 2 well-differentiated NET with Ki67 proliferation rate approaching 20%. A 68Ga-DOTATATE PET/CT post-surgery only showed a small focus of uptake within the left side of the upper cervical cord, with an SUV max of 3.9. Patient was subsequently treated with 45 Gy of external beam radiation therapy in 25 fractions. Molecular profile was performed on the patient's tumor (TSO 500; TruSight Oncology, Illumina); pathogenic variants were identified in EPHA3 and Tp53, and a copy number gain was found on CCND1. No further therapy was indicated, and patient continued active surveillance. Conclusion NETs constitute approximately 2% of all cancer diagnosed in the western world. The incidence has increased sixfold in the past four decades affecting approximately 170000 patients in USA. NETs (primary/ metastatic) are a rare occurrence in the Central Nervous System (CNS), and very few case reports of this condition are described in the literature. Surgery remains the mainstay treatment modality, with the goal of complete resection of the tumor. For residual tumors, somatostatin analogs, targeted molecular therapy (mTOR inhibitors and tyrosine kinase inhibitors) and chemotherapy (capecitabine /temozolomide) are indicated. No consensus guidelines exist for the treatment of spinal NETs and majority of the tumors are treated with surgery and radiation. Further studies are warranted for the diagnosis and management of spinal NETs. Presentation: Monday, June 13, 2022 12:30 p.m. - 2:30 p.m.
One of the notable points in ESRD patients is the multiplicity of skin manifestations which can include a wide range. It can also affect the living standards of patients due to its many types and severity. Careful study, as well as intense follow-up of these manifestations, can help physicians in timely diagnosis and their control or treatment. In this study, we tried to study the common mucocutaneous manifestations that occur in these patients. All references can be searched from PubMed. Sources of this study have been studied for clinical manifestations, pathophysiology, and treatment of skin manifestations in ESRD patients. In this study, xerosis, pruritus, pigmentation disorders, half and half nails, perforating disorder, and skin infections as well as appendageal disorders (hair and nail) in ESRD patients have been studied. These can be associated with other diseases and increase by disease severity. For better results and more help to patients with this disease, it seems that more and more comprehensive studies are needed. Key words: End stage renal disease, ESRD, mucucutaneous, skin, dermatology, xerosis, pigmentation disorders, infection, perforating disorder, half and half nails
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