Schöpf-Schulz-Passarge syndrome (SSPS) is a rare ectodermal dysplasia characterized by hypodontia, hypotrichosis, nail dystrophy, palmoplantar keratoderma, and periocular and eyelid margin apocrine hidrocystomas. Several other skin tumours have been described in association with this syndrome, in particular, multiple palmoplantar eccrine syringofibroadenoma (ESFA). We report a case of SSPS with diffuse ...

Proteus syndrome is a rare, sporadic genetic disorder characterized by overgrowth of multiple different tissues in a mosaic pattern. It is associated with connective tissue nevi, epidermal nevi, disproportionate overgrowth of multiple tissues, vascular malformations, characteristic tumors, and specific facial anomalies. Joseph Merrick, popularly known as the Elephant Man, is ...

Rosai-Dorfman syndrome is characterized by sinus histiocytosis with massive lymphadenopathy. A 25-year-old woman presented with multiple erythematous and yellowish papules on the forehead, cheeks, chin and thigh. She had massive generalized, firm, non-tender and non-matted lymphadenopathy and mild hepatomegaly. Her hemogram was normal. A skin biopsy showed collections of histiocytes ...

A high-capacity low-cost mutation scanning method based on denaturing high-performance liquid chromatography (DHPLC) has been recently introduced. We have implemented an automated and cost-effective strategy using DHPLC. To facilitate the semi-automated analysis of multiple exons, two steps were taken. The first step was the development of a PCR protocol for ...

Amyoplasia congenita is a diagnostic subgroup of children with arthrogryposis multiplex congenita (AMC). AMC is a relatively rare syndrome characterized by multiple joint contractures at birth. Amyoplasia congenita is the most common type of this syndrome with an occurrence rate of 1 in 10,000 live births, and mainly refers to ...

BACKGROUND: Use of syndromic surveillance as a tool to detect outbreaks and potential biologic or chemical terrorist attacks is increasing. Evaluating health departments' use of syndromic surveillance is necessary to determine the value of this methodology. METHODS: Syndromic surveillance signals detected by the New York City Department of Health and ...

Although a mild stooped posture is a hallmark of parkinsonism, extreme trunk forward flexion is not common. This phenomenon was described in different etiological entities and called camptocormia. Other similar presentations called Pisa syndrome and antecollis were described mainly in extrapyramidal disorders. Authors present two cases of probable multiple system ...

Birt-Hogg-Dubé syndrome (BHDS) is an uncommon autosomal dominant genodermatosis characterized by a triad of skin tumors--fibrofolliculomas, trichodiscomas, and acrochordons--together with an increased risk of renal tumors and spontaneous pneumothoraces. This report describes multiple facial angiofibromas as the predominant initial manifestation of BHDS. The patient had a total of 41 facial ...

PURPOSE: This report describes the clinical and in vivo microstructural features of the cornea in a case of Maroteaux-Lamy syndrome. METHODS: A 17-year-old female with Maroteaux-Lamy syndrome was examined by slit-lamp biomicroscopy, Orbscan II slit-scanning elevation topography, and in vivo confocal microscopy. RESULTS: Slit-lamp biomicroscopy revealed bilateral, altered corneal transparency ...

Blue rubber-bleb nevus syndrome (BRBNS), or Bean's syndrome, is a rare angiomatosis characterized by multiple cavernous hemangiomas of the skin, mucosae and frequently of other sites. A 49-year-old male patient had been affected since birth by multiple angiomas localized in the skin, lips, oral cavity, cranial theca, and central nervous ...

Neuromyelitis optica is a clinical syndrome characterised by acute transverse myelitis plus an acute or subacute optic neuritis with or without recovery. Although once believed to be a variant of multiple sclerosis, diagnostic criteria have recently been proposed for neuromyelitis optica, making it a clinically distinct syndrome. The term gluten ...

PURPOSE OF VIEW: We review recent developments in the clinical course and imaging modalities for Susac's syndrome, a clinical triad consisting of encephalopathy, branch retinal artery occlusions and sensorineural hearing loss. RECENT FINDINGS: Susac's syndrome has variable clinical presentations; recently described presentations include epileptic seizures and transient inverted vision. Advances ...

PURPOSE OF REVIEW: The multiple endocrine neoplasia (MEN) syndromes present a diverse array of challenges to the anesthesiologist. The tumors and their effects are often underdiagnosed and potentially discovered only when the patient is undergoing surgery for either a component of one of the syndromes or another procedure altogether. This ...

Lethal multiple pterygium syndrome is a rare inherited disorder. Previous reports suggest that the diagnosis may be based on prenatal sonographic demonstration of severe limb flexion, absence of fetal motion, and a large cystic hygroma in the second and third trimesters. We present the sonographic features and postmortem features of ...

Maffucci's syndrome is a congenital, non-hereditary mesodermal dysplasia associated with multiple enchondromas and after some years accompanied by hemangiomas. We describe a rare case of "reverse" Maffucci's syndrome in a 42-year-old woman who has suffered from multiple hemangiomas for the last 24 years. The last two years she complained for ...

The combination of arthrogryposis multiplex congenita and osteogenesis imperfecta is extremely rare. This combination is named Bruck syndrome. A 34 week male baby weighing 1.7 kg at birth was noted to have multiple flexion contractures and pterygia at elbows, wrists and knees, in addition to right foot talipes equinovarus deformity. ...

In this report, we present two cases of familial tuberous sclerosis co-existing with the Fanconi Syndrome. Both cases presented with history of failure to thrive and mental retardation associated with hypokalemic metabolic acidosis. To our knowledge, the association between tuberous sclerosis and the Fanconi Syndrome has not been reported previously.

Guidelines issued by the Centers for Disease Control and Prevention and the World Health Organisation state that healthcare workers should wear N95 masks or higher-level protection during all contact with suspected severe acute respiratory syndrome (SARS). In areas where N95 masks are not available, multiple layers of surgical masks have ...

The olfactostriatum is a portion of the basal ganglia of snakes situated ventromedially to the nucleus accumbens proper. It receives a major vomeronasal input from the nucleus sphericus, the primary target of accessory olfactory bulb efferents. Recently, the ophidian olfactostriatum has been characterized on the basis of chemoarchitecture (distribution of ...

Neuroimaging is known to complement clinical findings in the diagnostic work up of parkinsonian syndromes. Recently, transcranial ultrasound was reported to have a high diagnostic yield in differentiating idiopathic Parkinson's disease (IPD) from atypical parkinsonian syndromes. This report summarises the sonographic findings of 102 patients with IPD, 34 patients with ...

Multiple supernumerary teeth without any associated systemic conditions or syndromes are not common. We document a case of non-syndrome multiple supplemental supernumerary teeth in mandibular premolar region of an adolescent male patient, an incidental findings during routine radiographic examination. Periodic examination is recommended to monitor the clinical behavior.

Autism is a heterogeneous disorder that can reveal a specific genetic disease. This paper describes several genetic diseases consistently associated with autism (fragile X, tuberous sclerosis, Angelman syndrome, duplication of 15q11-q13, Down syndrome, San Filippo syndrome, MECP2 related disorders, phenylketonuria, Smith-Magenis syndrome, 22q13 deletion, adenylosuccinate lyase deficiency, Cohen syndrome, and ...

Each multiple endocrine neoplasia (MEN) syndrome expresses striking features of hormone oversecretion from its own characteristic group of tissues. Additional expressions include non-hormonal tumours in each MEN syndrome and selected cancers in some syndromes. The complexity of its stereotyped features results in difficult management issues that often justify cooperation across ...

The corticosteroid-responsive encephalopathy associated with autoimmune thyroiditis (the so-called "Hashimoto's Encephalopathy") is a rare disorder with multiple symptomatology, breaking out with an acute or subacute onset and having a relapsing course, not correlated to thyroid hormone levels, with autoimmune pathogenesis, and usually associated with Hashimoto's thyroiditis. In this paper, we ...

A 35-year-old man presented with a rare case of nevoid basal cell carcinoma syndrome, or Gorlin's syndrome, associated with both medulloblastoma and meningioma, manifesting as visual field constriction due to multiple parasellar tumors. He had undergone resection of a medulloblastoma at the age of 1 year 9 months, followed by ...

We present a case of nevoid basal cell carcinoma syndrome, also known as Gorlin syndrome, or basal cell nevus syndrome, which clinically follows a course more consistent with multiple hereditary infundibulocystic basal cell carcinomas or multiple hereditary trichoepitheliomas. The following article describes the case in detail and gives an overview ...

A 28-year-old man with Gardner syndrome was admitted to our Department because of multiple abdominal masses. Abdominal computed tomography revealed severe hydronephrosis of both kidneys due to ureteral compression against the pelvic bones exerted by multiple solid abdominal masses. The patient developed oligoanuria. Right percutaneous nephrostomy tube placement was followed ...

Neurofibromatosis Type 1 (NF1) is one of the most common autosomal dominant diseases affecting multiple systems including the vascular, skeletal, and central nervous system. Noonan syndrome (NS) is an autosomal dominant genetic disorder, associated with musculoskeletal and skin manifestations. Coexistence of central giant cell lesions in patients with both NS ...

Inverted follicular keratosis is characterized by a squamous epithelial expansion of the infundibular portion of the hair follicle in an exophytic and endophytic pattern. The lesion is often associated with squamous eddies similar to an irritated keratosis and may have a superficial papillomatous architecture. The lesion most often arises as ...

We describe a case of a 65-year old patient diagnosed with amyotrophic lateral sclerosis. The clinical findings, with symmetric, predominantly proximal wasting and weakness of both arms (especially of the infra-, supraspinatus and deltoideus) leading to severe functional disability and contrasting with preserved independent ambulation and sparing of bulbar muscles, ...

The Cotard syndrome is characterized by the delusion where an individual insists that he has died or part of his body has decayed. Although described classically in schizophrenia and bipolar disorder, physical disorders including migraine, tumour and trauma have also been associated with the syndrome. Two new cases are described ...

Microgeodic phalangeal syndrome is a rare condition affecting the fingers in children. Radiographically, the affected phalanges show sclerosis with multiple small areas of osteolysis. The pathogenesis of microgeodic phalangeal syndrome is considered to be a transient disturbance of the peripheral circulation caused by cold temperatures. In most cases, the symptoms ...

Blackthorn (Prunus spinosus), a member of Rosacea family is well known for causing infections and tissue reactions of synovial structures. Three interesting cases of cystic blackthorn granuloma, blackthorn synovitis with digital nerve entrapment, and multiple blackthorn syndrome are presented. Removal of foreign body fragments and surrounding reactive tissues resulted in ...

BACKGROUND: Foreign accent syndrome is a speech disorder which leads listeners to perceive the patient as having a foreign accent. It has been recognized previously after stroke, brain injury or unknown causes. CASE REPORT: A 52-year-old woman with clinically definite relapsing remitting multiple sclerosis (MS) presented with episodes of what ...

PURPOSE: To report the occurrence of recurrent multiple giant chalazia in the hyperimmunoglobulin E syndrome (hyper-IgE syndrome or Job syndrome). METHODS: Two patients with hyperimmunoglobulinemia E (>500 IU/ml) had ophthalmologic examination and surgical treatment for chalazia of the eyelids. RESULTS: The hyper-IgE syndrome is a rare immunodeficiency and multisystem disorder ...

LEOPARD syndrome, one of many cardiocutaneous syndromes, is an acronym for some of the obvious manifestations of the disease, such as lentigines or ocular hypertelorism. The synonymous name progressive cardiomyopathic lentiginosis better indicates the morbid cardiac features that patients with the syndrome have. A patient with LEOPARD syndrome is presented. ...

We report on an autopsy case of a 62-year-old Japanese woman with a 2.5-year history of axial dystonia. She presented with a form of axial dystonia reminiscent of Pisa syndrome. The pathophysiological mechanism underlying forms of axial dystonia remains to be elucidated. We report here the histopathological findings of a ...

PURPOSE: To review the distinctive and shared features of the white dot syndromes, highlighting the clinical findings, diagnostic test results, proposed etiologies, treatments, and prognosis. DESIGN: Review. METHODS: Review of the literature. RESULTS: Common white dot syndromes are reviewed, including acute posterior multifocal placoid pigment epitheliopathy, birdshot chorioretinopathy, diffuse unilateral ...

The Molar Tooth Sign (MTS) is defined by an abnormally deep interpeduncular fossa; elongated, thick, and mal-oriented superior cerebellar peduncles; and absent or hypoplastic cerebellar vermis that together give the appearance of a "molar tooth" on axial brain MRI through the junction of the midbrain and hindbrain (isthmus region). It ...

Systemic sclerosis is a multisystem disorder characterized by abundant fibrosis of the skin, blood vessels, and visceral organs. Cranial nerve involvement is an uncommon feature of this connective tissue disorder, and when it occurs it is the trigeminal nerve that is primarily affected. We report an elderly woman who presented ...

BACKGROUND: Regional enteritis may present in the setting of a variety of clinical symptoms. These symptoms range from mild to severe. METHODS: Here we describe two different presentations of regional enteritis (Crohn's disease): one in the setting of Clostridium perfringens sepsis and the second in association with hemolytic-uremic syndrome. Both ...

Adrenocortical and ureteral carcinomas were observed in a 50-year-old Japanese woman with Werner syndrome (MIM No. 27770). The syndrome is an autosomal recessive disorder characterized by premature aging and an increased risk of rare cancers, which are often multiple. This is the first reported association of adrenocortical carcinoma in Werner ...

Brooke-Spiegler syndrome is a rare, autosomally dominant disease characterized by the development of multiple cylindromas, trichoepitheliomas, and occasional spiradenomas. We report herein a case of Brooke-Spiegler syndrome in a 55-year-old woman associated with multiple cylindromas, spiradenomas, trichoepitheliomas, and syringomas that developed on her face. Her 52-year-old sister also suffered from ...

Both sexes of an ergasilid copepod, Limnoncaea diuncata Kokubo, 1914, are redescribed based on planktonic specimens collected from the type-locality in Hokkaido, Japan. Comparison of this species with Thersitina gasterostei (Pagenstecher, 1861) revealed that they are conspecific. Another ergasilid genus with two claws on the antenna, Diergasilus Do, 1981, is ...

Using the Neuropsychiatric Inventory (NPI), we studied euphoria and other behavioral changes in 75 consecutive, unselected multiple sclerosis (MS) patients and 25 healthy controls. We also assessed disease duration, clinical course, physical disability, personality, depression, insight, cognition, and caregiver distress. Factor analysis identified a cluster of symptoms--labeled euphoria/disinhibition--similar to the ...

BACKGROUND: The nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin-Goltz syndrome, is a rare dermatological disease inherited according to an autosomal dominant pattern. From the dermatological point of view, the most evident characteristic of the syndrome is the early onset of multiple basal cell carcinomas (BCCs). An ideal ...

As osteomas of the bones including the jaws may be the initial symptom or clinical finding in the Gardner's syndrome, this entity should always be included in the differential diagnosis. A 20-year-old boy was referred to our clinic from another medical center. Extra-oral examination of the patient revealed an obvious ...

Nevoid basal cell carcinoma syndrome, also referred to as Gorlin-Goltz syndrome, is a rare autosomal dominant disorder characterized by multiple basal cell carcinomas, jaw cysts, palmar or plantar pits, ectopic calcification of the falx cerebri, and various skeletal developmental abnormalities. A minority of basal cell carcinomas demonstrate aggressive behavior and ...

Matrix representation with parsimony (MRP) supertree construction has been criticized because the supertree may specify clades that are contradicted by every source tree contributing to it. Such unsupported clades may also occur using other supertree methods; however, their incidence is largely unknown. In this study, I investigated the frequency of ...

Nod2 (Card15) belongs to the family of the recently described Nod molecules, which also includes the closely related protein Nod1 (Card4). Nod proteins have been initially described as intracellular activators of the caspase and NF-kappaB signaling pathways. Recent progress has enabled research to demonstrate genetically that NOD2 (CARD15) is involved ...