A woman aged 56 years of age had a community-acquired left neck abscess and internal jugular vein thrombosis with septicemia due to extended-spectrum β-lactamase (ESBL)-producing Klebsiella pneumoniae. Even though she was treated with intravenous meropenem, the bacteremia persisted. She was complicated with multiple brain abscesses, seizure, and leucopenia. After a ...

A 5-year-old female with Papillon-Lefèvre syndrome presented with renal mass. A radiological diagnosis of malignancy was made; however, partial nephrectomy revealed granulomatous disease indicative of chronic infection. Although liver abscess is an emerging complication in patient with Papillon-Lefèvre syndrome, this case represents the first renal abscess described in such patients.

The prevalence of metabolic syndrome is increasing worldwide, and patients with metabolic syndrome have increased risk of developing cardiovascular disease and type 2 diabetes. Although specific criteria vary, the National Cholesterol Education Program Adult Treatment Panel III (NCEP/ATP III) criteria (2002) defined metabolic syndrome as the presence of 3 or ...

POEMS Syndrome is a rare cause of demyelinating and axonal mixed neuropathy. Plasmacytomas are usually seen in POEMS syndrome and can be osseous or extramedullary. Plasmacytomas presenting as an abscess has not been noted earlier. Our patient presented with localized hyperpigmented patch on the back and later developed progressive weakness ...

Klebsiella pneumoniae liver abscess syndrome (KLAS) is an emerging invasive infection caused by highly virulent community-acquired strains of K. pneumoniae displaying hypermucoviscosity. The salient features of this syndrome include the presence of bacteremia, primary monomicrobial liver abscess, and metastatic complications. A previously healthy Argentinean man presented with fever and found ...

The clinicopathologic features of 4 AIDS patients with cutaneous colesional Kaposi sarcoma (KS) and cryptococcosis, a rare phenomenon, are described. Biopsies from 3 patients who were highly active antiretroviral therapy (HAART)-naive demonstrated predominant KS with a conspicuous spindle cell component and small aggregates of cryptococcal yeasts in 2 biopsies and ...

Anticytokine autoantibodies are an important and emerging mechanism of disease pathogenesis. We will review the clinical and laboratory features of syndromes in which immunodeficiency is caused by or associated with neutralizing anticytokine autoantibodies. A growing number of patients have been described who demonstrate unique infectious phenotypes associated with neutralizing autoantibodies ...

Hypersensitivity in inflammatory/irritable bowel syndrome is contributed to in part by changes in the receptive properties of colorectal afferent endings, likely including mechanically insensitive afferents (MIAs; silent afferents) that have the ability to acquire mechanosensitivity. The proportion and attributes of colorectal MIAs, however, have not previously been characterized. The distal ...

The Scedosporium genus consists of filamentous fungi that inhabit soil, sewage, manure, and polluted waters, and contains two medically important species: Scedosporium apiospermum and Scedosporium prolificans. Scedosporiosis is caused by inhalation or traumatic subcutaneous implantation of the organism, and may have varied clinical presentations. A variety of pulmonary manifestations can ...

The HIV-associated immune reconstitution inflammatory syndrome usually manifests as new infections or worsening of pre-existing infections during the first few months of initiating anti-retroviral therapy. It is commonly associated with local or systemic inflammation, presumably due to rapid reconstitution of host immune system. Here we describe a unique case of ...

Acquired hemophilia is a severe hemorrhagic diathesis characterized by the emergence of anti-factor VIII inhibiting antibodies. It is rarely seen in certain types of cancers as a paraneoplastic syndrome. The case of a 73-year-old patient who developed acquired hemophilia during the course of treatment for a gastrointestinal stromal tumor is ...

BACKGROUND AND OBJECTIVE: poliosis is an inherited or acquired loss of pigment from a group of closely positioned hair follicles characterized by a patch of white hair. It is commonly seen in vitiligo, piebaldism, Waardenburg syndrome, Vogt-Koyanagi-Harada syndrome, Griscelli syndrome, and Apert syndrome. We investigated a male manifesting poliosis on ...

Cartilage hair hypoplasia (CHH) is an autosomal recessive disorder caused by mutations in the ribonuclease mitochondrial RNA-processing (RMRP) gene. Although its most constant feature is metaphyseal dysplasia with short stature, CHH is associated with extraskeletal defects such as thin hair, anemia, immunodeficiency, and increased incidence of lymphomas. The spectrum of ...

Abstract Both acquired and congenital immunodeficiencies may be associated with increased susceptibility to invasive fungal infections (IFIs), depending on the type of immune deficit. IFIs occur with increased frequency in patients with phagocytic and cellular immune defects but are rarely observed in those with humoral or complement deficits. Among congenital ...

We describe a case of nodular oral herpes simplex virus-1-positive lesions consistent with immune reconstitution inflammatory syndrome in a patient recently commenced on treatment for tuberculosis and HIV co-infection.

The authors report here on the case of a female patient with Norwegian (crusted) scabies and acquired immunodeficiency syndrome whose compliance with antiretroviral therapy was poor. Definitive diagnosis was confirmed by direct microscopic examination, which revealed numerous Sarcoptes scabei. Dermoscopy showed pathognomonic scabetic burrows and brownish structures in the shape ...

We report a case of acquired hepatocerebral degeneration (AHCD) presenting as a pure cerebellar syndrome. Magnetic resonance imaging (MRI) showed the typical features of AHCD in conjunction with ponto-cerebellar atrophy.

Chronic acquired demyelinating polyneuropathies may be refractory to conventional therapy including corticosteroids, plasma exchange, and intravenous immunoglobulin (Ig) or require long-term immunotherapy to maintain remission. Use of alternative approaches such as Rituximab, an anti-CD20 antibody, in the treatment of demyelinating polyneuropathy, unrelated to IgM gammopathy and myelin-associated glycoprotein antibodies, has ...

Creatine deficiency syndromes, which have only recently been described, represent a group of inborn errors of creatine synthesis (L-arginine-glycine amidinotransferase deficiency and guanidinoacetate methyltransferase deficiency) and transport (creatine transporter deficiency). Patients with creatine deficiency syndromes present with mental retardation expressive speech and language delay, and epilepsy. Patients with guanidinoacetate methyltransferase ...

Cutis laxa is a rare disorder resulting from degradation and clumping of elastic fibers in dermis. Type II acquired cutis laxa, shows only cutaneous changes without any systemic involvement. We describe an infant with acquired cutis laxa type II following a generalized inflammatory dermatitis.

Acquired partial lipodystrophy (Barraquer-Simons syndrome) is a rare condition with onset in childhood, and it is characterized by progressive loss of subcutaneous fat in a cephalocaudal fashion. Although it is known that acquired partial lipodystrophy usually follows acute febrile illness, it is very rarely reported to occur in association with ...

Lemierre syndrome is usually caused by Fusobacterium necrophorum, but we recently encountered a case due to methicillin-resistant Staphylococcus aureus and complicated by sigmoid sinus thrombosis and cranial neuropathies. Therapy may be made more difficult by unusual organisms and also create the need for therapy that penetrates into the central nervous ...

Immune Reconstitution Inflammatory Syndrome (IRIS) is an inflammatory syndrome in the context of immune restoration directed at a specific infectious antigen despite resolution of infection, often associated with opportunistic infections. IRIS has been reported in 30% to 35% of HIV patients who have cryptococcosis in whom antiretroviral therapy was initiated. ...

A 46-year-old man with human immunodeficiency virus presented with a condyloma that formed during 6 months and encased his penis, scrotum, and perineum. Visible condyloma growth began when this immunocompromised patient started highly active antiretroviral therapy, and it grew rapidly as his viral load plummeted. The patient underwent resection and ...

Wider use of highly active antiretroviral treatment (HAART) for human immunodeficiency virus-1 (HIV-1)-infected patients has significantly altered the pattern of acquired immunodeficiency syndrome (AIDS)-related clinical signs and symptoms and has revolutionized the therapeutic modalities for these patients. Immune reconstitution inflammatory syndrome (IRIS) is a paradox of clinical worsening of opportunistic ...

Patients with thymoma are mostly investigated for autoimmunity but a few patients may have underlying immunodeficiency that is referred to as Good's syndrome (GS). Cardiothoracic surgeons must always consider this diagnosis when undertaking thymectomy, as immunoglobulin levels can be easily measured and is readily available. The immunodeficiency in GS can ...

Immune reconstitution inflammatory syndrome (IRIS) is widely recognized and rarely involves the central nervous system (CNS). Patients with acquired immunodeficiency syndrome (AIDS) are at an increased risk for developing CNS-IRIS upon initiation of highly active antiretroviral therapy (HAART). This syndrome can be fatal and requires extreme vigilance in determining if ...

Visceral Leishmaniasis (VL) is a vector-borne zoonosis endemic in Southern Italy whose usual clinical features include fever, splenomegaly, pancytopenia and hypergammaglobulinemia. The clinical and biochemical picture may be misleading in patients with immunodeficiency diseases hampering the diagnosis. We describe a VL case in a patient whose spleen had been removed ...

A 4-month-old baby with a family history of hyper-IgE syndrome acquired Pneumocystis jirovecii pneumonia. The patient's hyper-IgE syndrome score was low, but a genetic study yielded a STAT3 mutation. P. jirovecii pneumonia can be added to the infections associated with hyper-IgE syndrome. In some cases, it may be the presenting ...

Bone marrow failure (BMF) syndromes include a broad group of diseases of varying etiologies, in which hematopoeisis is abnormal or completely arrested in one or more cell lines. BMF can be an acquired aplastic anemia (AA) or can be congenital, as part of such syndromes as Fanconi anemia (FA), Diamond ...

Moyamoya syndrome is a rare diagnosis that has been linked to a small number of hemoglobinopathies. Children with Moyamoya syndrome tend to present with transient ischemic attacks, mental deficiency, and/or neurological deficits. We describe a case of a 15-year-old Cambodian male with HbE/beta-thalassemia who was found to have left Moyamoya ...

Pseudoxanthoma Elasticum (PXE) is an autosomal recessive, multisystem disorder affecting connective tissues. We describe three cases of the acquired PXE-like syndrome that often occurs in association with hemolytic anemias, in particular the hemoglobinopathies, and review the literature on the subject. The pathogenesis of the acquired PXE-like lesions is not yet ...

One of the great advances in clinical medicine was the recognition of the pleomorphism of the immune response and the multiple afferent and efferent limbs of antigen processing and responsiveness. A significant contribution to this understanding was derived from studies of human immunodeficiency states, including both inherited and acquired syndromes. ...

The association of Down syndrome with mannose-binding lectin (MBL)-deficiency, recurrent infections and vasculitis has not been reported. We report a 30 year-old female with Down-syndrome associated with MBL-deficiency with the genotype LXA/HYD, IgG-deficiency, recurrent uro-genital infections, cutaneous vasculitis, G20.210A prothrombin mutation, deep venous thrombosis, and pulmonary embolism. MBL-deficiency in combination ...

The authors describe a case of pulmonary nocardiosis in a 37-year-old man with acquired immunodeficiency syndrome in treatment with antiretroviral drugs. Clinical symptoms were productive cough, hemoptysis and progressive weight loss. A chest x-ray showed a right upper lobe consolidation while the computed tomography demonstrated consolidation with air bronchogram and ...

A 60-year-old male patient presented with jaundice. Initial investigations showed anemia, indirect hyperbilirubinemia, raised Lactic Dehydrogenase (LDH) and increased reticulocyte count suggestive of hemolysis. Considering hemolysis low MCV and basophilic stippling on peripheral film, hemoglobin electrophoresis was done that showed Haemoglobin H (15.5%) that in the absence of family history ...

This article reviews the major syndromic immunodeficiencies with significant antibody defects, many of which may require intravenous immunogammaglobulin therapy. The authors define syndromic immunodeficiency as an illness associated with a characteristic group of phenotypic abnormalities or laboratory features that comprise a recognizable syndrome. Many are familial with a defined inheritance ...

CHARGE syndrome comprises coloboma of the eye, heart defects, choanal atresia, growth and developmental retardation, genitourinary anomalies and ear and hearing defects. The association between CHARGE syndrome and T-cell immunodeficiency is recognized, but has not been reported widely in the literature. We report four patients meeting the diagnostic criteria for ...

A 33-year-old male presented with a history of fever and cough and was diagnosed to have pulmonary tuberculosis and acquired immunodeficiency syndrome (AIDS). He was started on antituberculosis therapy (ATT) followed by highly active anti-retroviral treatment (HAART) after one week. He developed an immune reconstitution inflammatory syndrome (IRIS) leading to ...

Acquired Gitelman syndrome (GS) associated with Sjögren syndrome (SS) is rare, and the test to determine the pathophysiological state of acquired GS in patients with primary SS has not been reported previously. A 47-year-old woman with sicca complex presented to our clinic with intermittent muscle cramping and weakness involving both ...

Brown syndrome is a challenging management problem. Congenital Brown syndrome may show spontaneous resolution, and conservative management is successful in around 75% of cases. Inflammatory acquired Brown syndrome may respond to peri-trochlear injection of steroids or oral non-steroidal inflammatory agents. Post-traumatic acquired Brown syndrome is not as common as it ...

Since the histologic description of the hamartomatous polyp in 1957 by Horrilleno and colleagues, descriptions have appeared of several different syndromes with the propensity to develop these polyps in the upper and lower gastrointestinal tracts. These syndromes include juvenile polyposis, Peutz-Jeghers syndrome, hereditary mixed polyposis syndrome, and the phosphatase and ...

We examined the efficacy of liposomal amphotericin B (L-AMB) for intractable cryptococcal meningoencephalitis in a patient with acquired immunodeficiency syndrome (AIDS) and the presence of immune reconstitution syndrome (IRS) caused by the treatment. A 34-year-old patient presented with meningitis. Cryptococcal organisms were detected microscopically in the cerebrospinal fluid (CSF) with ...

The immune-reconstitution syndrome is a paradoxical inflammatory response to a preexisting or a coexisting disease, after the initiation of highly active antiretroviral therapy for the human immunodeficiency virus. Infrequently described, the radiographic and computed tomographic findings of the immune-reconstitution syndrome, which is related to the Mycobacterium avium-intracellulare infection and to ...

This article reports a female who presented with bleeding, acquired factor VIII and von Willebrand factor (aFVIII-VWF) deficiency, and central deficiency in the thyroid and adrenal axis (Sheehan's syndrome). After starting hormone replacement therapy, relief of bleeding manifestations was associated with correction of both FVIII and VWF to normal. This ...

Neurobehavioral manifestations of complete HPRT deficiency include severe action dystonia, choreathetosis, alteration of executive functions, and self-injurious behavior. Dystonic manifestations are also present in patients with partial HPRT deficiency. Pathophysiology of these manifestations is unknown. Guanidinoacetate is a neurotoxin implicated in certain dystonic syndromes. We have examined guanidinoacetate and creatine ...

Majocchi's granuloma, also known as nodular granulomatous perifolliculitis, is an uncommon fungal infection of the skin and subcutaneous tissue. It can occur in healthy and immunocompromised patients. The most common cause of Majocchi's granuloma is Trichophyton rubrum. We report a case of a Majocchi's granuloma caused by Aspergillus fumigatus in ...

Immune reconstitution inflammatory syndrome (IRIS) is an increasingly recognized phenomenon of paradoxical worsening of patients with acquired immunodeficiency syndrome (AIDS) upon initiation of highly active antiretroviral therapy (HAART). To date, there have been limited reports of IRIS in the central nervous system (CNS). Here, the authors describe a 43-year-old man ...

Vulvovaginal gingival lichen planus (VVG LP) is a distinct variant of LP frequently associated with mucocutaneous scarring and vaginal stricture formation. Good's Syndrome (thymoma with hypogammaglobulinemia) is a rare cause of immunodeficiency in adults. The clinical features, investigation findings, and challenges in the management of a patient presenting with VVG ...

Isolated plantar cerebriform collagenomas are a relatively rare type of connective tissue nevus. They have been suggested to be pathognomonic of Proteus syndrome. However, their presence is now considered to be a major criterion of Proteus syndrome, but the diagnosis of Proteus syndrome also requires the presence of other minor ...