Lysosomal storage disease Maroteaux–Lamy syndrome Other names Mucopolysaccharidosis type VI , [1] MPS VI , or Polydystrophic dwarfism A 16-year old boy with rapidly progressing MPS-VI, showing characteristic facial features and spinal deformities Specialty Endocrinology Symptoms Variable. May include: Macrocephaly , Hydrocephalus , Coarse facial features, Heart valve disease, Enlarged liver and spleen , Umbilical hernia [2] Usual onset Patients are affected at birth; symptoms usually appear during early childhood Duration Lifelong Causes Mutations in the ASRB gene Differential diagnosis Other mucopolysaccharidosis disorders Prognosis Reduced life expectancy Maroteaux–Lamy syndrome , or Mucopolysaccharidosis Type VI (MPS-VI) , is an inherited disease caused by a deficiency in the enzyme ASRB ( arylsulfatase B ). [3] ASRB is responsible for the breakdown of large sugar molecules called glycosaminoglycans (AKA GAGs, or mucopolysaccharides). In particular, ARSB breaks down dermatan sulfate and chondroitin sulfate . Because people with MPS-VI lack the ability to break down these GAGs, these chemicals build up in the lysosomes of cells. MPS-VI is therefore a type of lysosomal storage disease . Contents 1 Signs and symptoms 2 Genetics 3 Diagnosis 4 Treatment 5 Prognosis 6 Epidemiology 7 History 8 Society and culture 9 See also 10 References 11 External links Signs and symptoms [ edit ] Corneal clouding visible in the eye of a 30-year-old male with MPS VI Dermatan sulfate is one of the GAGs that builds up in the tissues of people with MPS-VI Unlike other MPS diseases, children with Maroteaux–Lamy syndrome usually have normal intelligence. [2] They share many of the physical symptoms found in Hurler syndrome .

Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a progressive condition that causes many tissues and organs to enlarge and become inflamed or scarred. Skeletal abnormalities are also common in this condition. The rate at which symptoms worsen varies among affected individuals. People with MPS VI generally do not display any features of the condition at birth. They often begin to show signs and symptoms of MPS VI during early childhood. The features of MPS VI include a large head (macrocephaly ), a buildup of fluid in the brain (hydrocephalus), distinctive-looking facial features that are described as "coarse," and a large tongue (macroglossia ).

Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate. Epidemiology Birth prevalence is between 1 in 43,261 and 1 in 1,505,160 live births. Clinical description The disorder shows a wide spectrum of symptoms from slowly to rapidly progressing forms. The characteristic skeletal dysplasia includes short stature, dysostosis multiplex and degenerative joint disease. Rapidly progressing forms may have onset from birth, elevated urinary glycosaminoglycans (GAG, generally >100 microgram/mg creatinine), severe dysostosis multiplex, short stature, and death before the 2nd or 3rd decades.

A number sign (#) is used with this entry because multiple exostoses type II (EXT2) is caused by heterozygous mutation in the gene encoding exostosin-2 (EXT2; 608210) on chromosome 11p11. Description Hereditary multiple exostoses is an autosomal dominant disorder characterized by multiple exostoses most commonly arising from the juxtaepiphyseal region of the long bones. For a general phenotypic description and a discussion of genetic heterogeneity of multiple exostoses, see EXT1 (133700). Mapping Cook et al. (1993) concluded that about 70% of multiple exostoses families show linkage to markers in the 8q24.11-q24.13 region (EXT1). Multiple exostoses in the other families appears to be caused by a mutation at another locus, unlinked to markers in that region.

Osteochondromatosis Specialty Medical genetics Osteochondromatosis is a condition involving a proliferation of osteochondromas . [1] Types include: Hereditary multiple exostoses Synovial osteochondromatosis References [ edit ] ^ " osteochondromatosis " at Dorland's Medical Dictionary External links [ edit ] Classification D ICD - 10 : Q78.6 ICD - 9-CM : 238.0 ICD-O : M9210/1 MeSH : D018216 DiseasesDB : 29635 SNOMED CT : 66467005 v t e Soft tissue disorders Capsular joint Synoviopathy Synovitis / Tenosynovitis Calcific tendinitis Stenosing tenosynovitis Trigger finger De Quervain syndrome Transient synovitis Ganglion cyst osteochondromatosis Synovial osteochondromatosis Plica syndrome villonodular synovitis Giant-cell tumor of the tendon sheath Bursopathy Bursitis Olecranon Prepatellar Trochanteric Subacromial Achilles Retrocalcaneal Ischial Iliopsoas Synovial cyst Baker's cyst Calcific bursitis Noncapsular joint Symptoms Ligamentous laxity Hypermobility Enthesopathy / Enthesitis / Tendinopathy upper limb Adhesive capsulitis of shoulder Impingement syndrome Rotator cuff tear Golfer's elbow Tennis elbow lower limb Iliotibial band syndrome Patellar tendinitis Achilles tendinitis Calcaneal spur Metatarsalgia Bone spur other/general: Tendinitis / Tendinosis Nonjoint Fasciopathy Fasciitis : Plantar Nodular Necrotizing Eosinophilic Fibromatosis / contracture Dupuytren's contracture Plantar fibromatosis Aggressive fibromatosis Knuckle pads v t e Tumours of bone and cartilage Diaphysis Multiple myeloma Epithelia Adamantinoma Primitive neuroectodermal tumor Ewing family Ewing's sarcoma Metaphysis Osteoblast Osteoid osteoma Osteoblastoma Osteoma / osteosarcoma Chondroblast Chondroma / ecchondroma / enchondroma Enchondromatosis Extraskeletal chondroma Chondrosarcoma Mesenchymal chondrosarcoma Myxoid chondrosarcoma Osteochondroma Osteochondromatosis Chondromyxoid fibroma Fibrous Ossifying fibroma Fibrosarcoma Epiphysis Chondroblast Chondroblastoma Myeloid Giant-cell tumor of bone Other Notochord Chordoma v t e Osteochondrodysplasia Osteodysplasia/ / osteodystrophy Diaphysis Camurati–Engelmann disease Metaphysis Metaphyseal dysplasia Jansen's metaphyseal chondrodysplasia Schmid metaphyseal chondrodysplasia Epiphysis Spondyloepiphyseal dysplasia congenita Multiple epiphyseal dysplasia Otospondylomegaepiphyseal dysplasia Osteosclerosis Raine syndrome Osteopoikilosis Osteopetrosis Other/ungrouped FLNB Boomerang dysplasia Opsismodysplasia Polyostotic fibrous dysplasia McCune–Albright syndrome Chondrodysplasia / chondrodystrophy (including dwarfism ) Osteochondroma osteochondromatosis Hereditary multiple exostoses Chondroma / enchondroma enchondromatosis Ollier disease Maffucci syndrome Growth factor receptor FGFR2 : Antley–Bixler syndrome FGFR3 : Achondroplasia Hypochondroplasia Thanatophoric dysplasia COL2A1 collagen disease Achondrogenesis type 2 Hypochondrogenesis SLC26A2 sulfation defect Achondrogenesis type 1B Autosomal recessive multiple epiphyseal dysplasia Atelosteogenesis, type II Diastrophic dysplasia Chondrodysplasia punctata Rhizomelic chondrodysplasia punctata Conradi–Hünermann syndrome Other dwarfism Fibrochondrogenesis Short rib – polydactyly syndrome Majewski's polydactyly syndrome Léri–Weill dyschondrosteosis This article about a neoplasm is a stub . You can help Wikipedia by expanding it . v t e

Rare skeletal disorder Hereditary multiple osteochondromas Other names Hereditary multiple exostoses Photograph of the legs of a 26-year-old male showing multiple lumps leading to deformity. Specialty Medical genetics Hereditary multiple osteochondromas ( HMO ), also known as hereditary multiple exostoses , is a disorder characterized by the development of multiple benign osteocartilaginous masses ( exostoses ) in relation to the ends of long bones of the lower limbs such as the femurs and tibias and of the upper limbs such as the humeri and forearm bones. They are also known as osteochondromas . Additional sites of occurrence include on flat bones such as the pelvic bone and scapula. The distribution and number of these exostoses show a wide diversity among affected individuals. Exostoses usually present during childhood. The vast majority of affected individuals become clinically manifest by the time they reach adolescence. [1] [2] A small percentage of affected individuals are at risk for development of malignant transformation namely sarcomas.

For a phenotypic description and a discussion of genetic heterogeneity of multiple exostoses, see (133700). Mapping In a child with multiple exostoses with an interstitial deletion of chromosome 11, Le Merrer et al. (1994) excluded linkage to markers in the region 11p12-p11. However, the locus they termed 'EXT2' was mapped to 19p by linkage to a microsatellite DNA marker at the D19S221 locus. In studies of 21 families, they found a maximum location score of 7.22 with a proportion of families (35%) linked to chromosome 19 and a proportion of families (65%) linked to chromosome 8. Their data supported the location of EXT1 distal to D8S198 and the location of the other gene, designated EXT3, between D19S413 and D19S221.

Overview Morning sickness is feeling like throwing up, also called nausea, and throwing up, also called vomiting, that occurs during pregnancy. Despite its name, morning sickness can strike at any time of the day or night. Many people have morning sickness, especially during the first three months of pregnancy. But some people have morning sickness all through pregnancy. Home remedies, such as snacking during the day and sipping ginger ale or taking medicine you can buy without a prescription, might help relieve nausea. Rarely, morning sickness is so bad that it turns into hyperemesis gravidarum.

Overview Hemifacial spasm is a nervous system condition in which the muscles on one side of the face twitch. The cause of hemifacial spasm is most often a blood vessel touching or pulsing against a facial nerve. A facial nerve injury or a tumor also can cause it. Sometimes there is no known cause. Symptoms Common symptoms of hemifacial spasm include jerking of muscles in the face that are most often: On one side of the face. Not controllable. Painless. These muscle movements, also called contractions, often start in the eyelid.

Tick-borne encephalitis is caused by an arbovirus of the Flaviviridae family (tick-borne encephalitis virus, TBEV), transmitted principally by the bite of the Ixodes ricinus tick. The symptomology is biphasic, with the initial phase being associated with a flu-like illness and the second phase (occurring in less than 10% of patients) with symptoms of meningitis or, more rarely, meningoencephalitis. Epidemiology Endemic zones (natural foci) include most European countries. In these natural foci, less than 1% of ticks carry the TBEV. Management and treatment Treatment is symptomatic. Vaccination of individuals at increased risk of infection (forests of Central Europe) and early administration of immunoglobulin may prevent development of the disease.

., PKD1, 173900) are indistinguishable, PCLD1 is a genetically distinct form of isolated polycystic liver disease (summary by Reynolds et al., 2000). A subset of patients (28-35%) may develop kidney cysts that are usually incidental findings and do not result in clinically significant renal disease (review by Cnossen and Drenth, 2014).

Polycystic liver disease Micrograph showing a von Meyenburg complex , a bile duct hamartoma associated with polycystic liver disease. Trichrome stain . Specialty Medical genetics Polycystic liver disease (PLD) usually describes the presence of multiple cysts scattered throughout normal liver tissue. [1] PLD is commonly seen in association with autosomal-dominant polycystic kidney disease , with a prevalence of 1 in 400 to 1000, and accounts for 8–10% of all cases of end stage renal disease . [2] The much rarer autosomal-dominant polycystic liver disease will progress without any kidney involvement. [2] Contents 1 Pathophysiology 2 Diagnosis 3 Treatment 4 References 5 Further reading 6 External links Pathophysiology [ edit ] Associations with PRKCSH and SEC63 have been described. [3] Polycystic liver disease comes in two forms as autosomal dominant polycystic kidney disease (with kidney cysts) and autosomal dominant polycystic liver disease (liver cysts only). Diagnosis [ edit ] Most patients with PLD are asymptomatic with simple cysts found following routine investigations. After confirming the presence of cysts in the liver, laboratory tests may be ordered to check for liver function including bilirubin, alkaline phosphatase, alanine aminotransferase, and prothrombin time. [2] Patients with PLD often have an enlarged liver which will compress adjacent organs, leading to nausea, respiratory issues, and limited physical ability. Classification of the progression of the disease takes into consideration the amount of remaining liver parenchyma compared to the amount and size of cysts. [2] Treatment [ edit ] Many patients are asymptomatic and thus are not candidates for surgery.

Isolated polycystic liver disease (PCLD) is a genetic disorder characterized by the appearance of numerous cysts spread throughout the liver and that in most cases is described as autosomal dominant polycystic liver disease (ADPCLD). Epidemiology The prevalence of ADPCLD is 1/100, 000. Clinical description Women are predominantly affected and have a larger number of cysts than affected males. Cysts are undetectable early in life and usually appear after the age of 40 years. Their number and size increases with age. Symptoms depend on the mass (compression effect) and can include abdominal distension, gastro-esophageal reflux, early satiety, dyspnea, decreased mobility and back pain due to hepatomegaly. Some patients are asymptomatic. Other complications (intracystic hemorrhage or infection, torsion or rupture of cysts) can cause acute abdominal pain.

Polycystic liver disease is an inherited condition characterized by many cysts of various sizes scattered throughout the liver . Abdominal discomfort from swelling of the liver may occur; however, most affected individuals do not have any symptoms. In some cases, polycystic liver disease appears to occur randomly, with no apparent cause. Most cases are inherited in an autosomal dominant fashion. Sometimes, cysts are found in the liver in association with the presence of autosomal dominant polycystic kidney disease (AD-PKD) . In fact, about half of the people who have AD-PKD experience liver cysts.

A rare, genetic, neuro-endocrino-cutaneous disorder characterized by highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, gynecomastia, microcephaly and kyphoscoliosis.

A mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow.

A rare inflammatory disease characterized by abrupt appearance of painful, edematous and erythematous papules, plaques and nodules on the skin, and frequently accompanied by fever and neutrophilia with a dense infiltration of mature neutrophils that are typically located in the upper dermis. The disease is classically associated with inflammatory disease, pregnancy, infection (mostly of the upper respiratory tract), or vaccination but may be idiopathic, associated with a hematological or visceral malignancy, or drug-induced. Epidemiology Several hundred cases of Sweet syndrome have been published. Clinical description Classical Sweet syndrome (CSS) usually presents in women between the age of 30 and 50 years, it is often preceded by an upper respiratory tract infection and may be associated with inflammatory bowel disease. It is characterized by the abrupt onset of painful erythematous plaques or nodules, but pustules and bullae are also described.

Sweet's syndrome Other names (a) Five centimeter pseudovesicular erythematous plaque on the shoulder Sweet's syndrome lesions with the classical form of the dermatosis. Specialty Dermatology Sweet's syndrome ( SS ), or acute febrile neutrophilic dermatosis , [1] [2] is a skin disease characterized by the sudden onset of fever , an elevated white blood cell count , and tender, red , well-demarcated papules and plaques that show dense infiltrates by neutrophil granulocytes on histologic examination. The syndrome was first described in 1964 by Robert Douglas Sweet . It was also known as Gomm–Button disease in honour of the first two patients Sweet diagnosed with the condition. [3] [4] [5] Contents 1 Signs and symptoms 2 Cause 2.1 Systemic diseases 2.2 Associations 3 Diagnosis 3.1 Laboratory studies 3.2 Definition 4 Treatment 5 See also 6 References 7 External links Signs and symptoms [ edit ] Pustular lesions with central necrosis on the left leg of a patient with Sweet's syndrome associated with Crohn's disease . Punch biopsy of a skin lesion showing neutrophilic infiltration in the dermis, with no evidence of vasculitis (same patient with Crohn's disease). Acute, tender, erythematous plaques, nodes, pseudovesicles and, occasionally, blisters with an annular or arciform pattern occur on the head, neck, legs, and arms, particularly the back of the hands and fingers.

Acute febrile neutrophilic dermatosis is a skin condition characterized by fever, inflammation of the joints (arthritis), and painful skin lesions that appear mainly on the face, neck, back and arms. Although middle-aged women are most likely to develop this condition, it may also affect men, older adults and even infants. The exact cause of acute febrile neutrophilic dermatosis often isn't known. It is suspected that it can be a reaction of the body to certain exposures (sun), infections ( Streptococcus bacteria, C ampylobacter ), or medications ( azathioprine , nonsteroidal anti-inflammatory medications ). This condition can also occur with some types of cancer and other serious health problems.

Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone.

A number sign (#) is used with this entry because of evidence that isolated partial growth hormone (GH; 139350) deficiency (GHDP) is caused by heterozygous, compound heterozygous, or homozygous mutation in the growth hormone secretagogue receptor gene (GHSR; 601898) on chromosome 3q26. Molecular Genetics Pantel et al. (2006) screened for mutations in the GHSR gene in 41 probands with idiopathic short stature and 51 probands with isolated growth hormone deficiency and identified the same mutation (A204E; 601898.0001) in 2 probands of unrelated Moroccan families. No mutations in the GH1 (139250) or GHRHR (139191) genes were identified in the probands. In family 1, which was consanguineous, the proband was homozygous for the mutation; 2 affected sibs and the affected parents were all heterozygous for the mutation, as was an unaffected sib whose height was in the low range of normal (-1.1 SD below the mean). In family 2, the proband and her affected father were both heterozygous for the mutation, as were 2 unaffected sibs, 1 of normal height and the other in the low range of normal (-1.2 SD below the mean), consistent with incomplete penetrance and variable expressivity.

Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported.

According to the WHO classification, three lesional patterns can be observed Inflammatory myofibroblastic tumour , that can be associated with an ALK gene rearrangement Plasmocytic pattern (" plasma cell granuloma "), that can be linked to IgG4-related disease Fibrous and hyalinizing pattern: Pulmonary hyalinizing granuloma References [ edit ] This medical sign article is a stub . You can help Wikipedia by expanding it . v t e

Inflammatory myofibroblastic tumor is a rare neoplastic lesion of the submucosal stroma, which can develop in any organ, often occurring in the lung, mesentery, omentum and the retroperitoneal region. It is histologically heterogenous, composed of spindle-shaped cells, myofibroblasts and inflammatory cells. It is usually benign, however local invasion, recurrence, malignant transformation with vascular invasion and metastases may occur. The presentation is nonspecific and depends on the organ involved. Some patients may present with paraneoplastic syndrome (fever, malaise, weight loss, anemia, thrombocytosis) or symptoms related to compression of adjacent organs, such as bowel obstruction.

An inflammatory myofibroblastic tumor (IMT) is an uncommon, usually benign (non-cancerous) tumor made up of cells called myofibroblastic spindle cells. It usually develops in children or young adults, but can affect people of any age. An IMT can occur in almost any part of the body but is most commonly found in the lung, orbit (eye socket), peritoneum (lining of the abdominal cavity and internal organs), and mesentery . Signs and symptoms vary depending on the site of the tumor. Some people with an IMT are asymptomatic, while others may have nonspecific respiratory symptoms, fever, or pain. IMTs may recur, and become locally invasive and/or spread ( metastasize ) to other parts of the body.

This article is an orphan , as no other articles link to it . Please introduce links to this page from related articles ; try the Find link tool for suggestions. ( February 2013 ) Inflammatory myeloblastic tumor Inflammatory myeloblastic tumor (IMT), also known as an "inflammatory pseudotumor", is a rare benign tumor occurring in the liver and/or bile ducts. [1] References [ edit ] ^ Faraj W., Ajouz H., Mukherji D. et al. World J Surg Oncol 2011; 9:5. This oncology article is a stub . You can help Wikipedia by expanding it . v t e

Overview Cancer of the ureter (ureteral cancer) is an abnormal growth of cells on the inside lining of the tubes (ureters) that connect your kidneys to your bladder. Ureters are part of the urinary tract, and they carry urine produced by the kidneys to the bladder. Ureteral cancer is uncommon. It occurs most often in older adults and in people who have previously been treated for bladder cancer. Ureteral cancer is closely related to bladder cancer. The cells that line the ureters are the same type of cells that line the inside of the bladder. People diagnosed with ureteral cancer have a greatly increased risk of bladder cancer, so your doctor will recommend tests to look for signs of bladder cancer.

Burkland and Juzek (1966) reported cancer of the right ureter in mother and son. GU - Cancer of ureter Inheritance - Autosomal dominant ▲ Close