Frontotemporal dementia (FTD) describes a group of clinical syndromes united by underlying frontotemporal lobar degeneration (FTLD) pathology. The clinical syndromes associated with FTLD are heterogeneous and are based on whether the patients present with behavioral, language, or motor impairments. FTLD is at the center of a paradigm shift in neurodegenerative ...

Local translation of dendritic mRNAs is a key aspect of dendrite and spine morphogenesis and synaptic plasticity, two phenomena generally compromised in intellectual disability disorders. Mammalian target of rapamycin (mTOR) is a protein kinase involved in a plethora of functions including dendritogenesis, plasticity and the regulation of local translation. Hence, ...

Echocardiography is critical in the assessment of patients with hypoplastic left heart syndrome. Fundamental techniques and standardised approaches are useful when evaluating patients with hypoplastic left heart syndrome prenatally, after birth, and before the Norwood operation (Stage 1); after the Norwood operation, before and after the superior cavopulmonary anastomosis (Stage ...

Background  Cowden's syndrome is a rare, autosomal dominant condition characterized by hamartomas of the gastrointestinal tract and cancer of the breast and thyroid. This study describes the clinical, immunological, and histopathological status of four Cowden's syndrome cases from two different families. Methods  Biopsies were taken from different skin, mucous membrane, ...

A 60-year-old man presented with diarrhea and weight loss. Colonoscopy revealed multiple reddish polypoid lesions throughout the gastrointestinal tract and was diagnosed as Cronkhite-Canada syndrome (CCS). Prednisolone therapy caused regression of polyps. Some of them were suspected to be early colon cancers and adenomas. We endoscopically performed mucosal resection for ...

Proteins belonging to the RAS/mitogen activated protein kinase (MAPK) pathway play key roles in cell proliferation, differentiation, survival, and death. For more than 30years now we have known that 30% of human cancers carry somatic mutations in genes encoding proteins from this pathway. Whereas somatic mutations have a high malignant ...

We report on a case of cervical cutaneomeningospinal angiomatosis (Cobb's syndrome), a rare somatic disorder, characterized by vascular abnormalities of the spinal cord, with a triad of associated vascular skin, muscle, bone, and dura involvement at the same somite. This case follows an 18-year-old male patient presenting with left extremity ...

A 65-year-old man suffering from esophageal cancer presented with postoperative alcohol withdrawal syndrome. Diazepam was used intravenously, but his condition did not improve. With inhalation of alcohol vapor driven by oxygen, the abnormal symptoms subsided and vital signs began to return to normal rapidly. This method is also beneficial for ...

This report describes a case of Brown-Sequard syndrome in a man who presented to the ED after a stabbing to the left scapula region. The incidental finding of pneumocephalus found on CT scan during workup lead to cervical MRI that revealed the spinal cord pathology associated with Brown-Sequard syndrome.

Reports about the Marden-Walker syndrome mainly consist of sporadic cases. We describe a 14-year-old girl with the Marden-Walker syndrome who presented with a huge scalp hematoma. The case and the corresponding images demonstrate an association with a defective hemostasis, skin hyperlaxity, and impaired wound healing.

Frank-Ter Haar Syndrome (FTHS) is a rare hereditary inherited disorder with many abnormalities. The main clinical features are brachycephaly, wide fontanels, prominent forehead, hypertelorism, prominent eyes, macrocornea with or without glaucoma, full cheeks, small chin, congenital heart defects, kyphoscoliosis, skeletal dysplasia, developmental delay, coccygeal skin folds and flexion deformity of ...

We present the case of a 71-year-old Japanese woman with Sjögren syndrome complicated with pulmonary amyloidosis who developed microscopic polyangiitis. She was admitted because of fever, weight loss, and paresthesia of the plantae and fingers. Chest computed tomography revealed bilateral multiple nodules with calcification in the lung. Transbronchial lung biopsy ...

Susac's syndrome (SS) is a rare microangiopathy affecting the precapillary arterioles of the brain, retina and inner ear, presumably resulting from an autoimmune endotheliopathy. We report the first case of SS with histologically proven skin involvement, in a 24-year-old male who presented a subacute encephalopathy, branch retinal artery occlusions and ...

Cutis laxa is a rare skin disorder characterized by wrinkled, redundant, inelastic and sagging skin due to defective synthesis of elastic fibers and other proteins of the extracellular matrix. Wrinkled, inelastic skin occurs in many cases as an acquired condition. Syndromic forms of cutis laxa, however, are caused by diverse ...

Lower extremity surgical procedures in patients with Werner's syndrome are uncommon, and for this reason they are rarely reported in the literature. In this report, we present the case of a 39-year-old man with a history of Werner's syndrome, and a malunited right hallux varus and first ray insufficiency after ...

Cowden syndrome (CS) or multiple hamartoma syndrome is a rare genetic disorder related to increased cellular proliferation of ectodermal, mesodermal, and endodermal tissues. It is characterized by multiple hamartomas and malignant neoplasms. Cancers of the breast, thyroid, endometrium, and skin are the most prevalent ones. Although close surveillance for cancer ...

Drug-induced hypersensitivity syndrome (DIHS) is caused by a limited number of specific drugs and is characterized by late onset, infectious mononucleosis-like symptoms, and herpesvirus 6 (HHV-6) reactivation. Recently, the involvement of herpes viruses other than HHV-6, such as Epstein-Barr virus and cytomegalovirus, has been reported. Many approaches have been used ...

A 59-year-old man treated with pneumococcal meningitis 4 months ago was hospitalized for acute heart failure and performed aortic valve replacement by rupture of aortic valve. The frequent association of pneumococcal meningitis and endocarditis is known as Austrian syndrome. Though Austrian syndrome is a clinically rare disease, the evolution of ...

Granulomatous dermatitis has rarely been reported as a manifestation of leukemia or myelodysplastic syndrome (MDS). We describe a case of widespread granulomatous dermatitis that preceded the diagnosis of MDS by 2 years. A 71-year-old man developed a generalized, mildly pruritic eruption that slowly progressed over a 2-year period. Punch biopsy ...

Recently, reports have suggested that chronic cannabis abuse can result in cyclical vomiting, or cannabinoid hyperemesis syndrome. With the increasing prevalence of cannabis use in the United States, this syndrome may be encountered in the emergency department. The authors describe a case of a 30-year-old man who presented to the ...

The number of patients suffering from trichloroethylene (TCE)-related severe skin disorders with liver dysfunction has been increasing in developing countries in Asia, especially since the mid-1990s. In Japan, five cases of this disease have been reported, but none since the 1990s. However, two additional cases were recently observed in Tokyo. ...

Hereditary periodic fever syndromes are characterized by recurrent episodes of fever and inflammation with no known pathogenic or autoimmune cause. In humans, several genes have been implicated in this group of diseases, but the majority of cases remain unexplained. A similar periodic fever syndrome is relatively frequent in the Chinese ...

Allopurinol hypersensitivity syndrome(AHS) is a severe form of cutaneous adverse reaction that is associated with significant morbidity and mortality. We report a case of AHS with the cutaneous manifestation of acute generalised exanthematous pustulosis(AGEP). A 47 year old gentleman, with no previous skin disease, presented with a generalized mildly pruritic ...

OBJECTIVES:: The aims of this review are to summarize the definitions, causes, and clinical course as well as the current understanding of the genetic background, mechanism of disease, and therapy of toxic epidermal necrolysis and Stevens-Johnson syndrome. DATA SOURCES:: PubMed was searched using the terms toxic epidermal necrolysis, Stevens-Johnson syndrome, ...

Entomologists estimate that more than 100,000 Americans suffer from "invisible bug" infestations, a condition known clinically as Ekbom syndrome (ES), although the psychiatric literature dubs the condition "rare." This illustrates the reluctance of ES patients to seek mental health care, as they are convinced that their problem is bugs. In ...

A 76-year-old man with rheumatoid arthritis, who had been treated with oral prednisolone and methotrexate, presented with high fever and generalized fatigability. Laboratory data demonstrated marked pancytopenia, which we first regarded as a side effect of methotrexate, and leucovorin was administered with granulocyte-colony stimulating factor and transfusions. Because no recovery ...

Yellow nail syndrome (YNS) is a rare disorder of unclear etiology. Since its original description by Samman and White, many other reports and associations have been described. Current evidence suggests that its pathologic mechanism is based on lymphatic dysfunction, which is thought to be acquired rather than congenital. However, our ...

Acute febrile neutrophilic dermatosis (Sweet's syndrome) is a clinical condition that is histopathologically characterized by infiltration of the dermis with mature neutrophils with or without vessel wall destruction. Frequently, an extracutaneous systemic disease can be seen. We report magnetic resonance imaging (MRI) findings of neutrophilic fasciitis in a 62-year-old man ...

More than one-third of women with deep venous thrombosis (DVT) will develop the postthrombotic syndrome (PTS), and 5-10% develop severe PTS, which can manifest as venous ulcers. Typical features of PTS include chronic pain, swelling, heaviness, edema and skin changes in the affected limb. The main risk factors for PTS ...

We present a case of a 48-year-old man who was initially thought to have had a brainstem stroke and was clinically 'locked-in'. Upon investigation, a petrous apex dural atriovenous fistula was identified causing profound brainstem venous hypertension. Surgical clipping lead to complete neurological recovery.

Huntchinson-Gilford Syndrome (Progeria) is a rare autosomal dominant disease characterized by premature aging. It is reported the case of child whose alopecia started at the age of 6 months on the occipital region. The child also presented scleroderma plaques on the abdomen. This syndrome presents alterations in many organs and ...

We report the case of a 36-year-old patient admitted for Macrophage Activation Syndrome (MAS), revealed by inflammatory dermo-hypodermal lesions, tumor syndrome, pancytopenia, biological cholestasis, increased lactate dehydrogenase rates and hemophagocytosis in skin biopsies. The patient also exhibited an exponential increase in triglycerides serum levels that reached 22 g/L. The patient died ...

The case of a 53 year-old, ASA physical status III man who underwent laparoscopy-assisted cystoprostatectomy, then subsequently developed three-limb compartment syndrome and rhabdomyolysis, is presented. He recovered baseline renal function and the use of his limbs. Well-limb compartment syndrome (WLCS) has a multifactorial etiology and is prevented and managed by ...

We present in this paper the case of a 12-year-old girl who had the clinical features of 2 different disorders: neurofibromatosis 1 (NF1) and 3 hemangiomas located in the skin, liver and mediastinum. The patient did not receive any specific treatment and showed a normal progressive evolution that lasted 1 ...

Bowel bypass syndrome, also known as bowel-associated dermatitis arthritis syndrome, has been described after a range of intestinal bypass procedures. With the increasing trend in laparoscopic gastric bypass surgery, we report an interesting case of bowel-associated dermatitis arthritis syndrome that developed 12 months following this procedure. A 49-year-old woman presented with ...

Milk-alkali syndrome was once considered to be of historic interest and a rare cause of hypercalcemia. Currently, it should be an important consideration in the differential diagnosis of hypercalcemia, after malignancies and primary hyperparathyroidism. The resurgence is in part due to the easy availability of over the counter (OTC) calcium ...

Patients with polyneuropathy, organomegaly, endocrinopathy, M protein and skin changes (POEMS) syndrome caused by underlying plasma cell dyscrasias, although rare, may present with peripheral neuropathy. In this retrospective study we describe the clinical, electrophysiological and pathological profile of 29 patients (27 males and two females, with a mean age of ...

Congenital symmetrical circumferential skin creases are a rare feature, often described as the "Michelin Tire Baby" syndrome and in general having a good prognosis. In some patients however, the circumferential skin creases are associated with other congenital malformations. We describe 2 unrelated patients presenting with multiple circumferential skin creases, growth ...

Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome (OMIM 308205) is an extremely rare X-linked oculocutaneous genetic disorder characterized by follicular keratotic papules, total to subtotal alopecia, and photophobia. Previous reports depicted the histopathological features of affected skin lesions, represented by marked follicular plugging and hypoplastic pilosebaceous structures. However, past studies ...

POEMS syndrome is a rare plasma cell dyscrasia characterized by polyneuropathy, organomegaly, endocrinopathy, M protein, and skin changes. This study reviewed the clinical characteristics and long-term outcome of 99 consecutive Chinese patients with newly diagnosed POEMS syndrome in a single institute. The median age of 99 patients was 45 years, and ...

Leukemia cutis is defined as a skin infiltration by leukemic cells. The diagnosis of myeloid leukemia cutis (MLC) can represent a challenge, especially in those cases without symptoms of systemic disease. The clinical appearance, histopathological analysis and inmunohistochemical profile can be indistinguishable from those observed in cases of hystiocitoid Sweet ...

A 13-year-old boy, born prematurely and hypotonic, from non-consanguineous healthy parents, was referred to our department because of easy bruising. A slightly extensible, thin and translucent skin, associated with dysmorphic facies, acrogeria, multiple ecchymoses, hypermobility of the small joints, dorsal kyphosis, genu valgum, flat feet, elongated upper limbs, and low ...

Tubulointerstitial nephritis and uveitis (TINU) is a rare syndrome with unknown pathogenesis. Data have shown a higher prevalence in female gender. We present a man with tubulointerstitial nephritis and uveitis syndrome and antitubular antibody. A 23-year-old man presented with a history of weight loss, nausea, and vomiting, and uveitis. His ...

Expression of immersion syndrome implies sudden and unexpected death of swimmer in water. A drowned swimmer is still a riddle for the forensic and clinical doctors. Pathophysiological mechanisms which cause immersion syndrome may be divided into vegetatively regulating and mechanical ones. We presented heterotopic intracranial ossification with the anomaly of ...

A 49 years old male patient admitted with 2 years history of lower extremity symmetrical sensorimotor polyneuropathy, sclerodermic skin change, erectile dysfunction, hepatosplenomegaly and monoclonal gammopathy. The clinical evaluation met the criteria for the diagnosis of (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, skin changes) POEMS syndrome. The patient was treated with ...

The term cutis tricolor describes the combination of congenital hyper- and hypopigmented skin lesions in close proximity to each other in a background of normal complexion. This phenomenon has been reported: (i) as a purely cutaneous trait; (ii) as a part of a complex malformation syndrome (Ruggieri-Happle syndrome - RHS); ...

The objectives of the 'Task Force on Catastrophic Antiphospholipid Syndrome (APS) and Non-criteria APS Manifestations' were to assess the clinical utility of the international consensus statement on classification criteria and treatment guidelines for the catastrophic APS, to identify and grade the studies that analyze the relationship between the antiphospholipid antibodies ...

Insulin resistance (IR) plays a major role in the pathogenesis of metabolic syndrome. Acanthosis nigricans (AN) is an easily detectable skin condition that is strongly associated with IR. The aims of this study were, firstly, to investigate the prevalence of AN among adults in an urban Sri Lankan community and ...

One of the severe adverse effects of intra-articular injection in the knee is septic arthritis of the knee joint. Staphylococcus aureus is the most frequent pathogen of septic arthritis. Staphylococcal scalded skin syndrome (SSSS) refers to a spectrum of blistering skin diseases caused by S. aureus exfoliative toxins. Although SSSS ...

We report a 55-year-old male patient with secondary progressive multiple sclerosis who developed an acute febrile syndrome with fever, neutrophilia and tender erythematous plaques and papules on his upper extremities after his fifth mitoxantrone infusion. Infectious, haematological and rheumatological diseases were ruled out, but skin biopsy showed neutrophilic infiltrations in ...