The histopathology of arthropod bite reactions is classically described as "dermal edema" with superficial and middle to deep dermal inflammation in a perivascular and wedge-shaped distribution. The composition of the infiltrate may vary, but a characteristic feature is the presence of prominent eosinophils between collagen bundles. Sweet syndrome, also known ...

Wells syndrome is an inflammatory eosinophilic dermatosis of unknown pathogenesis characterized by clinical polymorphism, a suggestive but nonspecific histopathologic traits, usually with a recurrent course and inconstant response to therapy. It seems to be an unspecific hypersensitivity reaction in response to various exogenous and endogenous stimuli, such as insect bites, ...

Capecitabine administration has been associated with various allergic reactions including acneiform skin rash, linchenoid photosensitive eruption, exudative non healing scalp, skin reactions, pyogenic granuloma, subacute cutaneous systemic lupus erythematosus, exudative hyponychia dermatitis, and hand-foot syndrome. A patient who developed ventricular fibrillation following capecitabine-induced coronary vasospasm and necessitating cardioverter-defibrillator implantation was ...

Epidemiologic studies indicate that ever larger numbers of people report having sensitive skin, for which a European prevalence of 50% is estimated. Sensitive skin is characterized by hyperreactivity, with manifestations varying in relation to many factors. The pathogenesis of this disorder is poorly understood, although studies point to a biophysical ...

In hypereosinophilic syndrome, the sustained overproduction of eosinophils leads to the dysfunction of one or more organs. Symptoms vary in accordance with which organ is affected. Cardiac involvement leads to substantial morbidity and to most of the deaths that are associated with hypereosinophilic syndrome.Herein, we present the case of a ...

We report a 57-year-old woman with concurrent tubulointerstitial nephritis and uveitis syndrome (TINU) and Fanconi's syndrome. She presented with sudden onset of bilateral ocular pain, blurred vision, acute renal failure, glucosuria and proteinuria. Slit lamp examination revealed acute bilateral anterior uveitis. Tubulointerstitial nephritis was confirmed by kidney biopsy. Laboratory examination ...

Churg-Strauss Syndrome (CSS) is rare in children. It consists of a small- and medium-sized vessel vasculitis, with skin and peripheral nerve involvement. It is characterized by eosinophilia, extravascular necrotizing granuloma, and eosinophilic infiltration of multiple organs particularly the lungs, but may also involve the gastrointestinal tract, the heart, and the ...

The aim of this article is to describe an additional clinical case of a patient with Alezzandrini syndrome. Clinically the patient presented with unilateral vitiligo on the left cheek, with partial loss of hearing and vision on the same side.

We present an update on molecular and clinical genetics of solid tumors associated with the various multiple endocrine neoplasias (MEN) syndromes. MEN type 1 (MEN1) describes the association of pituitary, parathyroid, and pancreatic islet cell tumors with a variety of many other lesions. MEN type 2 (MEN2) conditions represent at ...

The non-random association of vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheoesophageal fistula with esophageal atresia (TE), renal malformations (R), and limb defects (L) is termed VACTERL association. The aim of the present study was to identify microaberrations characterized by a loss or gain of genomic material that ...

A 73-year-old woman was admitted after the first upper gastric tract haemorrhage due to gastric variceal bleeding. A CREST syndrome associated with Hashimoto's thyroiditis, Gougerot-Sjögren syndrome, cryoglobulinaemia and complicated with severe pulmonary hypertension was diagnosed. Liver histology found precirrhotic lesions of primary biliary cirrhosis (PBC) and nodular regenerative hyperplasia (NRH). ...

We report a 13-year-old girl with Axenfeld-Rieger syndrome who was also found to have microspherophakia. She developed glaucoma in both eyes and was treated with bilateral pars plana lensectomy. To the best of our knowledge, no such association has been reported previously in the literature.

Opsoclonus-myoclonus syndrome is a rare neurologic disorder characterized by multidirectional chaotic eye movements, myoclonus in the limbs, and ataxia. We present a 9-year-old boy with opsoclonus-myoclonus syndrome associated with hepatitis C infection. To the best of our knowledge, this is the first report of opsoclonus-myoclonus syndrome associated with hepatitis C ...

Turner's syndrome is a genetic disorder of the sex chromosomes (e.g., 45,X or 45,X/46,XX) that manifests as various congenital anomalies. Despite its numerous extragonadal manifestations and frequent accompanying abnormalities in liver function tests, liver cirrhosis associated with Turner's syndrome has not been reported in Korea. Moreover, pulmonary arteriovenous malformations (PAVMs) ...

The hand-foot-syndrome (HFS, palmoplantar erythrodysesthesia, chemotherapy-associated acral erythema) is characterized by painful predominantly palmo-plantar lesions. The association with different chemotherapeutic agents has been known for over 20 years. More recently, HFS has been reported in association with regimens using targeted agents, in particular the multikinase inhibitors (MKI) sorafenib and sunitinib. ...

Phacomatosis pigmentokeratotica is characterized by the coexistence of an organoid epidermal naevus, follow-ing Blaschko's lines, and a large speckled lentiginous naevus, typically arranged in a chequerboard pattern. This entity has been isolated from the group of epidermal naevus syndromes and is frequently associated with extracutaneous anomalies. We report here the ...

Andersen-Tawil syndrome (ATS1)-associated ventricular arrhythmias are initiated by frequent, hypokalemia-exacerbated, triggered activity. Previous ex vivo studies in drug-induced Andersen-Tawil syndrome (DI-ATS1) models have proposed that arrhythmia propensity in DI-ATS1 derives from cytosolic Ca(2+) ([Ca(2+)](i)) accumulation leading to increased triggered activity. The purpose of this study was to test the hypothesis ...

Restless leg syndrome (RLS) is a common disorder associated with significant distress. We report three cases of drug induced RLS caused by olanzapine. In each case, RLS commenced after initiation of treatment with olanzapine and resolved after ceasing olanzapine. All three patients were subsequently treated with other atypical antipsychotics, risperidone, ...

Hamman's syndrome is the classical association of subcutaneous emphysema and pneumomediastinum, with or without pneumothorax. Its onset during the expulsive phase of childbirth is exceptional. We report here the first case associated with pharyngeal rupture at the level of the piriform sinus and describe the warning signs and the management ...

Little is known about the functional interaction between the Bloom's syndrome protein (BLM) and the recombinase RAD51 within cells. Using RNA interference technology, we provide the first demonstration that RAD51 acts upstream from BLM to prevent anaphase bridge formation. RAD51 downregulation was associated with an increase in the frequency of ...

We report on a five year old girl with Hallermann-Streiff syndrome and hemihypertrophy. Hemihypertrophy does not appear to have ever been associated with Hallermann-Streiff syndrome.

To describe a case of choroidal neovascularization (CNV) on the border of an inferior staphyloma associated with tilted disc syndrome treated with intravitreal ranibizumab. Observational case report. A patient with CNV on the border of an inferior staphyloma associated with tilted disc syndrome was imaged using fluorescein angiography, autofluorescence and ...

A case of bladder hemangiomas in association with Proteus syndrome (PS) is described. PS is a rare hamartomatous disorder and comprises an association of verrucous epidermal nevi, infantile hemangiomas, lipoma-like subcutaneous hamartomas and asymmetrical overgrowth of almost any part of the body. To our knowledge, this is the second case ...

PURPOSE: Goldenhar syndrome is a multiorgan involvement affecting mainly the eyes, auricle, and oral cavity. METHOD. Case report. RESULTS: A 7-month-old boy presenting with features of Goldenhar syndrome had ocular and auricular manifestations. There were no vertebral anomalies, but he had the unusual association of pre-axial polydactyly, which is not ...

Thymic carcinomas are rare neoplasms representing less than 1% of all thymic malignancies arising from thymic epithelium. Lymphoepithelioma-like thymic carcinoma is a high grade neoplasm with aggressive features and frequent metastasis. Association of lymphoepithelioma-like thymic carcinomas with Epstein-Barr virus was observed in several previously reported case reports. Paraneoplastic syndromes have ...

Kaposi sarcoma herpes virus (KSHV), also known as human herpesvirus-8, plays an important role in the pathogenesis of Kaposi sarcoma (KS), multicentric Castleman disease (MCD) of the plasma cell type, and primary effusion lymphoma. KSHV is rarely associated with the hemophagocytic syndrome (HPS), but when it does occur, it most ...

A considerable volume of literature has been published on the association of lacrimal outflow dysgenesis with developmental anomalies or systemic syndromes. We report three affected individuals in a consanguineous family those are associated with bilateral ptosis, upper ocular movement limitation, and absence of the lacrimal punctum. T our knowledge, this ...

BACKGROUND: Self-injurious behaviour is commonly seen in Cornelia de Lange syndrome (CdLS). However, there has been limited research into the aetiology of self-injury in CdLS and whether environmental factors influence the behaviour. METHODS: We observed the self-injury of 27 individuals with CdLS and 17 participants who did not have CdLS ...

Good syndrome, characterized by hypogammaglobulinemia and acquired immunodeficiency, is a rare condition associated with thymoma. A 67-year-old woman, who 4 months previously had a thymoma resected, presented with generalized hypogammaglobulinemia with a severely decreased B cell population as demonstrated by flow cytometry. She was diagnosed as having bacterial mediastinitis associated ...

Dapsone hypersensitivity syndrome is an idiosyncratic reaction to this drug and can present with different clinical manifestations of varying severity. We describe a patient with disseminated intravascular coagulation (DIC) as an adverse reaction to dapsone. To the best of our knowledge, this is the first time it has been described ...

Transient ischemic attack is one of the most common causes of transient neurologic deficit. Anemic hypoxia results from reduced hemoglobin content with normal arterial oxygen tension and saturation. Anemic hypoxia caused by blood loss or hemolysis has not been considered as an independent factor leading to significant neurologic problems because ...

Wegener's Granulomatosis (WG) is closely associated with antineutrophil cytoplasmic autoantibodies (ANCA), particularly those directed to proteinase 3 (PR3). ANCA directed to myeloperoxidase (MPO) are associated with microscopic polyangiitis (MPA) and the Churg Strauss syndrome. PR3-ANCA associated vasculitis differs from MPO-ANCA associated vasculitis particularly in the occurrence of granulomatous inflammation and ...

Paraneoplastic acrokeratosis of Bazex (PAB) or Bazex's syndrome is a rare, paraneoplastic syndrome that mostly affects men over 40 years old, and generally associates with squamous cell carcinoma of the upper aerodigestive tract. We describe a 57-year-old woman with the characteristic features of PAB, including violaceous erythematous, scaling eruption, palmoplantar ...

Infection-associated hemophagocytic syndrome is a life-threatening condition characterized by prolonged fever, hepatosplenomegaly, and cytopenia-most commonly, thrombocytopenia and anemia. It is characterized by proliferation and activation of benign histiocytes, causing dysfunction of various organs. Herein, we report on a 5-month-old boy whose clinical picture and laboratory findings were consistent with cytomegalovirus ...

Systemic vasculitis may, at times, be drug-induced and associated with antineutrophil cytoplasmic antibodies (ANCA). However, pantoprazole, a commonly used and well-tolerated proton pump inhibitor, has not previously been reported to cause ANCA-associated syndromes. We describe a patient who developed interstitial nephritis, cutaneous vasculitis, a perinuclear ANCA staining pattern (pANCA) on ...

We describe a case report of a 6-year-old boy with a 4-year history of recurrent vomiting with a cyclical vomiting pattern. Although initially labelled with and treated for Cyclical Vomiting Syndrome the cause was subsequently found to be an enteric duplication associated with cystic lymphangioma, an association not previously described.

A number of conditions have been associated with remitting seronegative symmetrical synovitis with pitting edema (RS3PE) and the controversy of whether this should be considered a syndrome rather than a disease continues. There are few reports on the role of infectious agents in the etiology of RS3PE, and human parvovirus ...

The association of Crohn's disease (CD) and Sweet's syndrome is rare and the presence of Sjögren's syndrome in Crohn's disease is even rarer, with only three reports found in the literature. We describe two cases of Crohn's disease associated with Sweet's syndrome, one of which is the first case of ...

An association between HLA-DR13 and patients with complex regional pain syndrome (CRPS) who progressed towards multifocal or generalized tonic dystonia was recently reported. We now report on a new locus, centromeric in HLA-class I, which was significantly associated with a spontaneous development of CRPS, suggesting an interaction between trauma severity ...

The adipocytes anatomically associated with lymph nodes and omental milky spots have site-specific properties that equip them to interact locally with lymphoid cells. Paracine provisioning of peripheral immune responses improves their efficiency and emancipates activated lymphocytes from competition with other tissues for blood-borne nutrients. Prolonged disruption to such paracine interactions ...

A variety of systemic autoimmune disorders have been reported in patients with myelodysplastic and myeloproliferative syndromes. A possible association with polymyalgia rheumatica and giant cell arteritis has also been recognised. We report another case of polymyalgia rheumatica and one of giant cell arteritis associated with a myelodysplastic syndrome and the ...

Two large outbreaks of diarrheal illness associated with Cyclospora cayetanensis, a coccidian parasite, provided an opportunity to evaluate clinical syndromes associated with this enteric pathogen. Reiter syndrome, a triad of ocular inflammation, inflammatory oligoarthritis, and sterile urethritis, has been associated with enteric infections. We describe the first case of Reiter ...

Twenty-five percent to 50% of patients with polymyositis (PM) and dermatomyositis (DM) have autoantibodies that are specific for or associated with the presence of myositis. Because of a relatively low sensitivity for the diagnosis of PM or DM, these autoantibodies are inadequate as a screening test for PM or DM ...

A small number of cases of Cushing's disease (CD) associated with primary empty sella (ES) have been described in the literature. Pituitary microsurgery is the recommended treatment. An alternative is chronic treatment with ketoconazole, an inhibitor of adrenal cortisol synthesis. Cyclic Cushing's syndrome is characterized by episodic cortisol hypersecretion. CD ...

OBJECTIVE: To investigate the role of HLA class I in susceptibility to Felty's syndrome (FS) and large granular lymphocyte (LGL) syndrome. METHODS: Fifty caucasoid FS patients, and 55 patients with LGL syndrome, of whom 26 had arthritis and 29 did not, were studied. Complete HLA class I and HLA-DR typing ...

In May 1997, some white lesions evoking the white spot syndrome disease were observed in Litopenaeus stylirostris broodstock in New Caledonia. The occurrence of these lesions was neither associated with mortality, nor with histological evidence of white spot syndrome baculovirus (WSBV), The evidence suggests that these lesions result from a ...

Waugh's syndrome (WS) is the association of intussusception and intestinal malrotation. The association has not been widely reported in the literature. In the only prospective study, Brereton et al. reported a high frequency of the association, which suggests non-random association. Six patients with this association presented to our unit over ...

A case of pronator teres syndrome associated with mononeuritis multiplex in polyarteritis nodosa is reported. External neurolysis of the median nerve at the proximal forearm and prednisolone were effective for treatment of the disease.

Persistent Mullerian Duct Syndrome (PMDS) associated with transverse testicular ectopia (TTE) is rare. Ten cases have been reported in the past. Accurate diagnosis with karyotype and histological analysis is crucial. Surgical management should be geared toward preservation of fertility when possible.

Pfiesteria piscicida (Pp) is an estuarine dinoflagellate that has been associated with fish kill events in estuaries along the eastern seaboard and possibly with human health effects. CDC, in collaboration with other federal, state, and local government agencies and academic institutions, is conducting multistate surveillance, epidemiologic studies, and laboratory research ...