A 71-year-old man was admitted to the hospital complaining of productive cough and weight loss. Physical examination showed fine bilateral basal crackles. Laboratory findings showed elevated liver enzymes. Tuberculin skin test and sputum smear for acid-fast bacilli were negative. On the fifth day of admission, he deteriorated and developed severe ...

Cutaneous sebaceous tumors, as well as keratoacanthomas, are associated with Muir-Torre syndrome (MTS). Visceral neoplasias are a feature of this syndrome; thus, early detection using a cutaneous biopsy is very important in dermatopathology. A dermatopathologist can apply different techniques in such cases, including immunohistochemistry for several mismatch repair proteins or ...

Background:  Blue Rubber Bleb Nevus Syndrome (BRBNS) is a rare mucocutaneous disorder which is characterized by multiple venous malformations in the skin and the gastrointestinal tract. Objective:  We present a case of an 18 year old patient who presented with mucocutaneous as well as gastrointestinal lesions. We firstly describe the ...

Epidermal nevus syndrome is the term for the association of an epidermal nevus and extracutaneous anomalies, including neurologic, ophthalmic, and skeletal defects. Epidermal nevus syndromes include different disorders that share the feature of mosaicism. Phacomatosis pigmentokeratotica (PPK) is a distinctive new epidermal nevus syndrome first described in 1996 characterized by ...

BACKGROUND: Mutations in the dedicator of cytokinesis 8 gene (DOCK8) cause a combined primary immunodeficiency syndrome that is characterized by elevated serum IgE levels, depressed IgM levels, eosinophilia, sinopulmonary infections, cutaneous viral infections, and lymphopenia. Many patients with DOCK8 deficiency were previously thought to have a variant of Job's syndrome. ...

Oral lichen planus (OLP) is a relatively common mucosal disease that can present isolated or associated with cutaneous lichen planus. Contrarily to its cutaneous counterpart, though, OLP tends to be chronic, relapsing, and difficult to treat. Severe morbidity is related to erosive forms, and more aggressive presentations have been described, ...

In order to describe the clinical and serologic features of a cutaneous vasculitis due to cocaine contaminated with the adulterant levamisole, we report four new cases of this syndrome along with 12 previously reported cases identified through a PubMed Literature search (1964 to March 2011). Of the 16 patients described, ...

Amyloidosis cutis dyschromica is a rare form of cutaneous amyloidosis in which there is deposition of keratinocyte-derived amyloid with involvement of almost the entire integument, leading to diffuse dyschromia without associated systemic abnormalities. We report the case of a 40-year-old female who presented with the onset of diffuse hyperpigmentation shortly ...

Epidermal nevus syndrome is a multi-system disease with a wide spectrum of clinical presentation. Numerous specialists may be required to address its extra cutaneous manifestations. We report a severe case of epidermal nevus syndrome involving the oral cavity, pharynx, and central nervous system in addition to disfiguring skin lesions. Dermatologists ...

Gardner syndrome, a variant of familial adenomatous polyposis, is an autosomal dominant genetic disease characterized by the combined presence of multiple intestinal polyps and extraintestinal manifestations. The extraintestinal manifestations include multiple osteomas, connective tissue tumors, thyroid carcinomas, and hypertrophy of the pigmented epithelium of the retina. Osteoma is a benign ...

To establish the zebrafish platinum mutant as a model for studying vision defects caused by syndromic albinism diseases such as Chediak-Higashi syndrome, Griscelli syndrome, and Hermansky-Pudlak syndrome (HPS). Bulked segregant analysis and candidate gene sequencing revealed that the zebrafish platinum mutation is a single-nucleotide insertion in the vps11 (vacuolar protein ...

Purpose: To describe the retinal imaging findings in the index patient with Heimler syndrome (OMIM #234580). Design: Non-interventional case report. Methods: A 29-year-old woman with Heimler syndrome developed bilateral vision loss. Fluorescein angiography (FA), fundus autofluorescence (FAF), spectral domain optical coherence tomography (SD-OCT) and electroretinography (ERG) were performed to assess ...

A 35-year-old female presented with scaly annular and pigmented lesions all over the body of 2 years duration. Her clinical features, histopathology, immunofluorescence findings and positive ANA and anti-Ro antibodies were suggestive of subacute cutaneous lupus erythematosus-lichen planus. We report this case because of its clinical rarity.

Naegeli(-Franceschetti-Jodasson) syndrome and Dermatopathia Pigmentosa Reticularis are allelic disorders, both characterized by a congenital generalized reticulate hyperpigmentation, palmoplantar hyperkeratosis and other ectodermal symptoms. The disorders differ in their primary pigmentation localization and hair and dental manifestations. They resemble Dyskeratosis Congenita and Poikiloderma Clericuzio type in many of the skin changes, ...

Hypereosinophilic syndrome (HES) encompasses a group of leukoproliferative disorders with variable involvement of the internal organs. More than half of all patients have cutaneous involvement. In a minority of the reported cases, skin involvement has been the only manifestation of HES . We report one such rare case of HES, ...

Graham Little-Piccardi-Lassueur syndrome is a type of lichen planopilaris (follicular lichen planus) characterized by the triad of patchy cicatricial alopecia of the scalp, noncicatricial alopecia of the axilla and groin, and a follicular spinous papule on the body, scalp, or both. It is four times more common in females in ...

Laugier-Hunziker syndrome is an acquired macular hyperpigmentation of the oral and genital mucosa, often associated with longitudinal melanonychia. We report a case of longitudinal melanonychia on fingernails and toenails, hutchinson's signal and lenticular pigmentation of her lips and oral mucosa. Histopathological analysis is typical and had a broad differential diagnosis. ...

Skin lesions can often be the only sign of an underlying systemic abnormality which will require further investigation. Several syndromic conditions are diagnosed after their cutaneous marker, which is in most cases a nevus. We report a neurocutaneous condition which we named "syndromic nevoid hypermelanosis" (SNH). We studied seven patients ...

A self-regulated epidemic model was developed to describe the dynamics of Salmonella Typhimurium in pig farms and predict the prevalence of different risk groups at slaughter age. The model was focused at the compartment level of the pig farms and it included two syndromes, a high and a low propagation syndrome. These ...

We report a patient with rheumatoid arthritis (RA) who developed cytomegalovirus (CMV)-induced infectious mononucleosis-like syndrome (IMLS) while being treated with methotrexate and infliximab. She suddenly developed intermittent high fever and general fatigue with liver dysfunction, remarkable lymphocytosis and laboratory data suggestive of CMV reactivation. Her clinical symptoms quickly improved after ...

This review presents studies that support an inflammation-immunological model for the pathogenesis of post-infectious irritable bowel syndrome (IBS), and highlights recent studies that support a similar disease model in non-post-infectious IBS, in particular, diarrhoea-predominant IBS, as well as in post-infectious functional dyspepsia. These recent studies are highlighted to demonstrate that ...

A growing body of literature has identified the association between neutrophilic dermatoses and multifocal, aseptic bone lesions in children, termed chronic recurrent multifocal osteomyelitis (CRMO). Classically, patients present with swelling, pain, and impaired mobility of the affected area, with skin lesions developing concurrently or in the future. Bone biopsy reveals ...

Necrotizing fasciitis of the head and neck is a rare, life-threatening, soft tissue infection rapidly involving superficial fat and fascia with necrosis of the overlying skin. If septic thrombophlebitis of the internal jugular vein complicates a parapharyngeal abscess, the clinical condition is referred to as Lemierre syndrome, also known as ...

Acute osteomyelitis in neonates, although rare, represents a diagnostic and therapeutic challenge. We herein report an extremely rare case of congenital nonsyphilitic iliac bone osteomyelitis caused by methicilline-sensitive Staphylococcus aureus and presenting with gluteal syndrome in a near-term infant. To our knowledge, this represents the second report with iliac osteomyelitis ...

We report a 34 years old gentleman who was referred to us with multiple brown spots on the palms, soles and scalp. He had those three months prior to being diagnosed with non-Hodgkin's lymphoma. His past history includes both Evan's syndrome and membranoproilferative glomerulonephritis treated by mycophenolate mofetil (MMF). On ...

The [URE3] and [PSI(+)] prions are infectious amyloid forms of Ure2p and Sup35p. Several chaperones influence prion propagation: Hsp104p overproduction destabilizes [PSI(+)], whereas [URE3] is sensitive to excess of Ssa1p or Ydj1p. Here, we show that overproduction of the chaperone, Sse1p, can efficiently cure [URE3]. Sse1p and Fes1p are nucleotide ...

Skull base osteomyelitis (SBO) arising from the sphenoidal paranasal air sinus infection without associated external otitis is rare. Initially SBO may have headache as the only symptom with cranial neuropathies occurring later. We report a 10-year-old immunocompetent girl with headache and chronic sinusitis, who developed a lateral medullary syndrome following ...

To establish a unified classification system for mandibular osteomyelitis, various diagnostic terms were critically assessed and clinicopathologic findings of the lesions were carefully reviewed. We recommend classifying mandibular osteomyelitis into bacterial osteomyelitis and osteomyelitis associated with the synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO) syndrome. Other diagnostic terms were excluded ...

Although Epstein-Barr virus (EBV) commonly causes infectious mononucleosis (IM) or IM-like syndromes, other agents can be implicated. In this study, viral and parasitic screening was performed to determine the etiological agent of pediatric IM-like syndromes in 38 children. Adenovirus was the agent most frequently detected (47.3%), followed by EBV (31.5%) ...

Necrotizing fasciitis is characterized by a rapidly progressing necrosis of subcutaneous fat and fascia, which can be life-threatening without prompt recognition, surgical intervention, and immediate antibiotic therapy. Necrotizing fasciitis has been subdivided into type 1, or polymicrobial necrotizing fasciitis, and type 2, or group A streptococcal necrotizing fasciitis. In addition, ...

OBJECTIVES: To identify and demonstrate necrotizing dermatitis in infancy; an uncommon, puzzling syndrome, in which anecdotal reporting and personal experience indicates that one third of cases may require skin grafting. Much informed discussion about the pathogenesis of this distressing syndrome centres on the role of spider envenomation; and in particular ...

Avian hepatitis E virus (HEV), a novel virus identified from chickens with hepatitis-splenomegaly (HS) syndrome, is genetically and antigenically related to human HEV. Recently, it was found that avian HEV antibody is also prevalent in healthy chickens. A prospective study was done on a known seropositive but healthy chicken farm ...

A 12-month-old boy developed a mild hemolytic uremic syndrome with no acute diarrheal prodrome. The typical clinical, hematological, and serological features of infectious mononucleosis were also noted. The clinical course of both hemolytic uremic syndrome and infectious mononucleosis was uneventful. A review of the literature disclosed that hemolytic uremic syndrome ...

OBJECTIVES: To find diagnostic points and to identify the origin of osteomyelitis in synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome. METHODS: Fifty-two patients with mandibular suppurative osteomyelitis and 25 patients with mandibular osteomyelitis in SAPHO syndrome were included in the study. Radiographic patterns of the lesion, types of periosteal ...

Salmonella osteomyelitis is rare in children and usually occurs in conjunction with haemoglobinopathies. We followed a girl with recurrent salmonella osteomyelitis of both hands from infancy until she was 19 years of age. She was not affected by sickle cell disease, which sometimes accompanies acute swelling of hands and feet, ...

The association of infectious mononucleosis and an immunocompromised host such as occurs in acute leukemia is reported. The most common cause of infectious mononucleosis is Epstein-Barr virus (EBV) and cytomegalovirus (CMV). Patients with mononucleosis syndrome caused by other agents are rare. We report a case of acute monocytic leukemia (AMoL) ...

Diffuse sclerosing osteomyelitis of the mandible is characterized by bouts of intense pain, sometimes associated with trismus and paresthesia, and leads to progressive deformity. It is of unknown etiopathology, but it is suggested to be one manifestation of the synovitis, acne, pustulosis, hyperostosis, osteomyelitis syndrome, the other features of which ...

Gianotti-Crosti syndrome (papular acrodermatitis of childhood) is considered a nonspecific cutaneous host response to a variety of infectious agents, particularly viruses. Herein we report a case of Gianotti- Crosti syndrome preceded by oral polio vaccine and followed by varicella infection. The present case may support the hypothesis of initial immunization ...

A patient with SAPHO syndrome (synovitis, acne, pustulosis, hyperostosis and osteitis) was evaluated by combined scintigraphy. (99m)Tc HMDP scintigraphy showed accumulation in the sternum and lumbar vertebrae as well as the right mandible, whereas (67)Ga citrate showed an accumulation in the right mandible, but not in the sternum or lumbar ...

Multifocal subacute necrotizing encephalomyelopathy affects Simmental and Simmental-cross cattle. First clinical signs are ataxia and hind limb paresis. The characteristic gross lesion is bilaterally symmetrical, grey, depressed to cavitated foci involving nuclei in the brainstem. The caudal olivary nucleus is consistently involved. The etiology of the syndrome remains unknown.

Papular acrodermatitis of childhood (PAC), also known as Gianotti-Crosti syndrome, is a self-limited disorder with acute onset generalized lymphadenopathy and monomorphic lentil-sized, dense, nonconfluent, symmetric, flat-topped, non-pruritic papules. We describe 2 patients, one with anicteric hepatitis, lymphocytosis, and positive hepatitis B surface antigenemia, and the other with a cytomegalovirus (CMV) ...

For 12 years, a 26-year-old man had acne conglobata and a non-suppurative diffuse sclerosing osteomyelitis of the mandible as part of a chronic recurrent multifocal osteomyelitis of the sternum, the pelvic bones, and the femoral head, and aseptic arthritis of the knee, the fibulotalar, and the sternoclavicular joints. This fulfills ...

We asked whether UDP glucuronosyltransferase (UGT) gene promoter polymorphism (Gilbert's syndrome) would increase hyperbilirubinaemia in direct Coombs' negative ABO-incompatible neonates, as seen in other combinations with this condition. 40 ABO-incompatible and 344 ABO-compatible controls had an allele frequency of 0.35 for the variant promoter gene. The incidence of hyperbilirubinaemia was ...

Diffuse sclerosing osteomyelitis may indicate the mandibular localisation of the SAPHO syndrome. Twelve patients with diffuse sclerosis of the mandible were examined for symptoms of the SAPHO syndrome. Nine patients were found to have primary chronic osteomyelitis and eight of these represented a SAPHO syndrome. Results in this series support ...

PURPOSE: To describe the clinical and laboratory features of infectious crystalline keratopathy and endophthalmitis secondary to Mycobacterium abscessus in a patient with Stevens-Johnson syndrome. METHOD: Case report. A 19-year-old man with a history of Stevens-Johnson syndrome and multiple corneal transplants developed white crystalline corneal infiltrates. RESULTS: Anterior chamber aspirate disclosed ...

Farmed pre-smolt stage Atlantic salmon developed an acute, severe haemorrhagic anaemia, termed haemorrhagic smolt syndrome. The fish were in good condition, but lethargic, and had widespread visceral and muscle petechiation and ecchymoses. The mean (sd) haematocrit of affected fish was 1.4(0.9) per cent and histopathology revealed widespread haemorrhage in all ...

Papular acrodermatitis of childhood (Gianotti-Crosti syndrome) is considered an unspecific cutaneous pattern related to an increasing number of infectious diseases. We report two cases of Gianotti-Crosti syndrome, one of which occurred in the setting of parvovirus B19 primary infection and the other followed poxvirus infection. Parvovirus B19 and poxvirus may ...

Topics covered here include the role of noninfectious and common and uncommon infectious agents in the development of nongonococcal urethritis; the relative usefulness of a variety of laboratory tests for organisms such as Chlamydia trachomatis and Neisseria gonorrhoeae; and complications including acute epididymitis, prostatitis, and Reiter's syndrome.

Twenty-five-day-old broiler chickens were inoculated intramuscularly or orally with a suspension prepared from the livers of chickens naturally affected with hydropericardium syndrome (HPS), and uninoculated chickens were kept in the same room with the inoculated birds. The mortality rates in the chickens inoculated intramuscularly or orally were 100 per cent ...

A case of necrotizing fasciitis in association with hyperimmunoglobulin E (HIE) syndrome is reported. The patient was a 17-year-old Japanese boy with a clinical history of recurrent skin and pulmonary infections and eczematoid dermatitis, markedly elevated serum levels of IgE, and coarse facies. He had a gangrenous swelling on the ...