Fibrous Dysplasia/McCune-Albright Syndrome . Seattle (WA): University of Washington, Seattle. ... Journal of Bone and Mineral Research . 22 (9): 1468–1474. doi : 10.1359/jbmr.070511 . ISSN 0884-0431 . PMID 17501668 . ^ Cutler, Carolee M.; Lee, Janice S.; Butman, John A.; FitzGibbon, Edmond J.; Kelly, Marilyn H.; Brillante, Beth A.; Feuillan, Penelope; Robey, Pamela G.; DuFresne, Craig R. (2006-11-01). ... Journal of Bone and Mineral Research . 19 (4): 571–577. doi : 10.1359/JBMR.0301262 . ISSN 0884-0431 . PMID 15005844 . S2CID 37760051 . ^ Weinstein, L. ... Journal of Bone and Mineral Research . 19 (4): 571–577. doi : 10.1359/JBMR.0301262 . ISSN 0884-0431 . PMID 15005844 . S2CID 37760051 .
Fibrous dysplasia is a skeletal disorder that is characterized by the replacement of normal bone with fibrous bone tissue. It may involve one bone ( monostotic ) or multiple bones ( polyostotic ). Fibrous dysplasia can affect any bone in the body. The most common sites are the bones in the skull and face, the long bones in the arms and legs, the pelvis, and the ribs. Though many people with this disorder do not have any symptoms, others may have bone pain, abnormally shaped bones (deformities), or an increased risk of fractures (broken bones). The problems a person experiences depend on which bones are affected, and may arise from compression and displacement of adjacent structures to the lesions.
A rare, benign, primary bone dysplasia characterized by progressive replacement of normal bone and marrow with fibrous connective tissue in either one (monostotic) or multiple (polyostotic) bones. Clinical manifestations depend on the anatomic location of the replacement and may include bone pain, deformities, pathological fractures, and cranial nerve deficits. Epidemiology The prevalence is unknown and is difficult to estimate due to the frequent asymptomatic lesions. Clinical description FD can involve the craniofacial, axial, and/or appendicular skeleton separately or simultaneously, and ranges from isolated asymptomatic monostotic lesions to severely incapacitating polyostotic lesions leading to pain, fracture, deformity or loss of vision and hearing. The monostotic form represents approximately 70% of cases, may present with pain or a pathologic fracture, and is usually diagnosed between 10 to 30 years of age.
Clinical Features Shohat et al. (1993) described a preterm (28 weeks) female fetus with a 'new' lethal skeletal dysplasia characterized by distinctive epiphyseal stippling, periosteal cloaking, and unusual microscopic morphology. Radiologically there was marked stippling of the coccygeal and sacral vertebral region as well as of the epiphyses. Long bones showed wide periosteal cloaking and bowing. Sagittal clefting was present in the upper spine. In contrast to the normal morphology of the epiphyses and growth plates, the marrow was filled with loose fibrous tissue containing numerous large multinucleated osteoclasts which were associated with Howship lacunae on the endosteal surface. The morphologic features were consistent with elevated bone resorption.
A rare disorder characterized by epiphyseal stippling and osteoclastic overactivity. It has been described in less than 10 patients but may be underdiagnosed. It is characterized radiographically by severe stippling of the lower spine and long bones, and periosteal cloaking. Patients also have short metacarpals. The syndrome may be inherited as an autosomal recessive trait. This disorder should be included in the differential diagnosis of mucolipidosis type II.
Dancing for Health. Rowman Altamira. ISBN 0-7591-0859-5 , ISBN 978-0-7591-0859-2 . Rouget, Gilbert (1985) Music and Trance : a Theory of the Relations between Music and Possession .
. : “Pathology of Chronic Constipation in Pediatric and Adult Coloproctology“, Karger 2005 ^ Meier-Ruge WA. (1998). "Desmosis of the colon: a working hypothesis of primary chronic constipation". Eur J Pediatr Surg.8; 299-303 ^ Meier-Ruge WA, Bruder E. (2007). "The morphological characteristics of aplastic and atrophic desmosis of the intestine". Pathologe 28: 149-54 ^ Meier-Ruge WA, Bruder E. (2005). "Atrophic desmosis as secondary connective tissue atrophy in muscularis propria".
A primary adrenal insufficiency caused by a sudden defective production of adrenal steroids (cortisol and aldosterone). It represents an emergency, thus the rapid recognition and prompt therapy are critical for survival even before the diagnosis is made. Epidemiology Acute adrenal insufficiency (AAI) exact prevalence is unknown. Clinical description The disease may occur at any age. The onset is often sudden. The initial presentation may be non specific and may be limited to abdominal pain, nausea, vomiting, weight loss, tachycardia, and fever.
American Journal of Neuroradiology . 16 (1): 157–65. PMID 7900586 . ^ de Jong MC, Kors WA, de Graaf P, Castelijns JA, Moll AC, Kivelä T (December 2015). ... PMID 10561222 . ^ de Jong MC, Kors WA, de Graaf P, Castelijns JA, Kivelä T, Moll AC (September 2014).
Pineoblastoma is a rare, malignant type of supratentorial primitive neuroectodermal tumor (sPNET), found mainly in children (less than 10% of cases are reported in adults), and located in the pineal region of the brain but that can metastasize along the neuroaxis. As it is the most aggressive of the pineal parenchymal tumors, it is usually associated with a poor prognosis.
Pineoblastoma is a type of cancerous ( malignant ) tumor that grows in a part of the brain known as the pineal gland . It occurs mainly in children. Symptoms of pineoblastoma include a buildup of fluid around the brain (hydrocephalus), headaches, nausea, and difficulty with eye movement. Without treatment, pineoblastomas can cause weakness and difficulty controlling movement. The long term outcome depends on the age at diagnosis, the size of the tumor, and if the tumor has spread outside the brain ( metastasized ). The cause of pineoblastoma is unknown, but specific inherited genetic variants in two genes, RB1 and DICER1 can increase the risk for a pineoblastoma.
Journal of Bone and Mineral Research . 24 (3): 543–557. doi : 10.1359/jbmr.080505 . ISSN 0884-0431 . PMC 3276604 . PMID 18505376 . ^ "Symptoms and causes – Enlarged spleen (splenomegaly) – Mayo Clinic" . www.mayoclinic.org .
Overview Thalassemia (thal-uh-SEE-me-uh) is an inherited blood disorder that causes your body to have less hemoglobin than normal. Hemoglobin enables red blood cells to carry oxygen. Thalassemia can cause anemia, leaving you fatigued. If you have mild thalassemia, you might not need treatment. But more severe forms might require regular blood transfusions. You can take steps to cope with fatigue, such as choosing a healthy diet and exercising regularly. Symptoms There are several types of thalassemia. The signs and symptoms you have depend on the type and severity of your condition.
Thalassemia is an inherited blood disorder that reduces the production of functional hemoglobin (the protein in red blood cells that carries oxygen). This causes a shortage of red blood cells and low levels of oxygen in the bloodstream, leading to a variety of health problems. There are two main types of thalassemia, alpha thalassemia and beta thalassemia . Signs and symptoms vary but may include mild to severe anemia, paleness, fatigue , yellow discoloration of skin (jaundice), and bone problems. Beta thalassemia is caused by changes (mutations) in the HBB gene while alpha thalassemia is caused by mutations in the HBA1 and/or HBA2 genes.
Riccardi (1982) described cases of neurofibromatosis that are sufficiently variant that they seem to warrant separation from the classic von Recklinghausen NF I (162200), the acoustic neuroma type, NF II (101000), and the mixed type, NF III (162260). The group still is undoubtedly heterogeneous. Iris Lisch nodules, one of the most specific features of NF I, are usually absent in NF IV. The importance of a separate category for these cases is related to the probable difference in prognosis and genetic counseling and the desirability of avoiding confusion of studies of the natural history and pathogenesis of NF I. Eyes - Iris Lisch nodules usually absent Inheritance - Autosomal dominant - heterogeneous Skin - Atypical neurofibromatosis ▲ Close
Overview Thrombophlebitis (throm-boe-fluh-BY-tis) is an inflammatory process that causes a blood clot to form and block one or more veins, usually in the legs. The affected vein might be near the surface of the skin (superficial thrombophlebitis) or deep within a muscle (deep vein thrombosis, or DVT). Blood clot in leg vein A blood clot in a leg vein may cause pain, warmth and tenderness in the affected area. Causes of thrombophlebitis include trauma, surgery or prolonged inactivity. deep vein thrombosis (DVT) increases the risk of serious health problems. It's usually treated with blood-thinning medications. Superficial thrombophlebitis is sometimes treated with blood-thinning medications, too.
AJR Am J Roentgenol . 178 (2): 503–6. doi : 10.2214/ajr.178.2.1780503 . PMID 11804926 . Full text Numa WA, Desai U, Gold DR, Heher KL, Annino DJ (2005).
Silent sinus syndrome is characterised by adult-onset progressive enophthalmos due to collapse of some or all of the maxillary sinus walls. Epidemiology Its prevalence is unknown but around 100 cases have been reported in the literature so far. Clinical description The progressive enophthalmos may occasionally be associated with cheek pain, diplopia and blurred vision. Patients sometimes report a history of remote episodes of sinusitis. The syndrome may be idiopathic or occur following a bony orbital decompression resulting from Graves' ophthalmopathy or orbital floor fracture. Etiology The underlying mechanism involves obstruction of the maxillary antrum aeration followed by generation of negative antral pressure.
Journal of General Internal Medicine . 29 (7): 1072–1073. doi : 10.1007/s11606-013-2695-7 . ISSN 0884-8734 . PMC 4061346 . PMID 24408276 . ^ a b John Barone, M.D.
Right-sided aortic arch Anterior-posterior chest radiograph showing a right-sided aortic arch Chest radiograph showing a right-sided aortic arch, lateral view Right-sided aortic arch is a rare anatomical variant in which the aortic arch is on the right side rather than on the left. During normal embryonic development , the aortic arch is formed by the left fourth aortic arch and the left dorsal aorta. In people with a right-sided aortic arch, instead the right dorsal aorta persists and the distal left aorta disappears. Contents 1 Symptoms 2 Pathophysiology 3 Diagnosis 3.1 Classification 4 Management 5 Epidemiology 6 See also 7 References 8 External links Symptoms [ edit ] A right-sided aortic arch does not cause symptoms on itself, and the overwhelming majority of people with the right-sided arch have no other symptoms. However when it is accompanied by other vascular abnormalities, it may form a vascular ring , causing symptoms due to compression of the trachea and/or esophagus . [1] Pathophysiology [ edit ] The causes of right-sided aortic arch are still unknown, 22q11 deletions have been found in some people with this condition. [2] It has also been found in association with other genetic syndromes such as Trisomy 21 (Down syndrome).
CS1 maint: multiple names: authors list ( link ) ^ Hallman KB, Nahhas WA, Connelly PJ (September 1991). "Endosalpingiosis as a source of psammoma bodies in a Papanicolaou smear.
You can help by adding to it . ( August 2017 ) Sources [ edit ] Singleton, EB, Merten DF: An unusual syndrome of widened medullary cavities of the metacarpals and phalanges, aortic calcification and abnormal dentition, Pediatric Radiol 1:2, 1973. [1] Resources form the National Institutes of Health [2] WebMD information References [ edit ] ^ Ferreira CR, Crow YJ, Gahl WA, Gardner PJ, Goldbach-Mansky R, Hur S, de Jesús AA, Nehrebecky M, Park JW, Briggs TA (2018) DDX58 and classic Singleton-Merten syndrome.
Singleton-Merten syndrome is a very rare disease that affect many organs. The main features are tooth abnormalities with gum infection; calcifications in the aorta artery and in certain valves of the heart (i.e., aortic and mitral valves); and progressive thinning and weakening of the bones (osteoporosis), especially in the upper and back portions of the skull. Other findings may include neurologic problems, generalized short stature, muscle weakness; poor muscle tone (hypotonia); progressive wasting of the muscles ( muscle atrophy ); heart arrhythmia, growth and developmental delay; skin problems such as psoriasis; malformation of the hips and/or feet and limbs or fingers, joint problems, tendon rupture, distinct facial features, and vision problems due to glaucoma. Severe systemic lupus erythematosus can also occur with Singleton-Merten syndrome. Singleton-Merten syndrome is caused by mutations in the IFIH1 gene, and in the DDX58 genes (which causes anatypical form of Singleton-Merten syndrome where there are no teeth problems).
A number sign (#) is used with this entry because of evidence that Singleton-Merten syndrome-2 (SGMRT2) is caused by heterozygous mutation in the DDX58 gene (609631) on chromosome 9p21. Description Singleton-Merten syndrome-2 is characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies (summary by Jang et al., 2015). For a general phenotypic description and discussion of genetic heterogeneity of Singleton-Merten syndrome, see SGMRT1 (182250). Clinical Features Jang et al. (2015) studied a large 4-generation Korean family with aortic calcification, glaucoma, and skeletal abnormalities. The 56-year-old proband was diagnosed with bilateral glaucoma at 6 years of age and was blind by age 17.
A number sign (#) is used with this entry because of evidence that Singleton-Merten syndrome-1 (SGMRT1) is caused by heterozygous mutation in the IFIH1 gene (606951) on chromosome 2q24. Description Singleton-Merten syndrome (SGMRT) is an uncommon autosomal dominant disorder characterized by abnormalities of blood vessels, teeth, and bone. Calcifications of the aorta and aortic and mitral valves occur in childhood or puberty and can lead to early death. Dental findings include delayed primary tooth exfoliation and permanent tooth eruption, truncated tooth root formation, early-onset periodontal disease, and severe root and alveolar bone resorption associated with dysregulated mineralization, leading to tooth loss. Osseous features consist of osteoporosis, either generalized or limited to distal extremities, distal limb osteolysis, widened medullary cavities, and easy tearing of tendons from bone.
Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).
Axial osteomalacia is a rare osteosclerotic disorder first described by Frame et al. (1961). Characteristically, trabecular bone has 'a unique coarsening and spongelike appearance in the x-rays of the axial skeleton.' Radiographically, the skull and appendicular skeleton are normal. Vague chronic axial skeletal pain is the presenting symptom in most patients. Despite osteosclerosis and normal circulating levels of calcium, inorganic phosphate and alkaline phosphatase, bone biopsy specimens show osteomalacia. Until the report of Whyte et al. (1981), 10 cases had been described, all in middle-aged or elderly white men.
Ataxia with vitamin E deficiency is a disorder that impairs the body's ability to use vitamin E obtained from the diet. Vitamin E is an antioxidant, which means that it protects cells in the body from the damaging effects of unstable molecules called free radicals. A shortage (deficiency) of vitamin E can lead to neurological problems, such as difficulty coordinating movements (ataxia) and speech (dysarthria), loss of reflexes in the legs (lower limb areflexia), and a loss of sensation in the extremities (peripheral neuropathy). Some people with this condition have developed an eye disorder called retinitis pigmentosa that causes vision loss. Most people who have ataxia with vitamin E deficiency start to experience problems with movement between the ages of 5 and 15 years.
A number sign (#) is used with this entry because of evidence that ataxia with vitamin E deficiency (AVED) is caused by homozygous or compound heterozygous mutation in the TTPA gene (600415) on chromosome 8q12. Clinical Features Harding et al. (1985) described a young woman with spinocerebellar degeneration thought to be due to a selective defect in vitamin E absorption. There was no evidence of fat malabsorption. Binder et al. (1967) suggested a relationship between neurologic dysfunction and vitamin E deficiency in patients with chronic steatorrhea. This was subsequently confirmed in patients with abetalipoproteinemia (200100), the most severe state of vitamin E deficiency known. When studied at age 23, the proband had no vitamin E in the serum. A progressive neurologic disorder comprising ataxia, areflexia and marked loss of proprioception developed at age 13.
A neurodegenerative disease belonging to the inherited cerebellar ataxias mainly characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and is associated with a marked deficiency in vitamin E. Epidemiology Global prevalence is not known but population-based studies have been performed and prevalence can be extrapolated at approximately 1/300,000. AVED is the second most frequently inherited cerebellar ataxia in North Africa. As vitamin E deficiency might bring protection against malaria (see this term), it could explain a higher prevalence of AVED in Plasmodium infested areas. Clinical description AVED presents generally between ages 5 and 20 years with variable phenotype and severity.
Summary Clinical characteristics. Ataxia with vitamin E deficiency (AVED) generally manifests in late childhood or early teens between ages five and 15 years. The first symptoms include progressive ataxia, clumsiness of the hands, loss of proprioception, and areflexia. Other features often observed are dysdiadochokinesia, dysarthria, positive Romberg sign, head titubation, decreased visual acuity, and positive Babinski sign. The phenotype and disease severity vary widely among families with different pathogenic variants; age of onset and disease course are more uniform within a given family, but symptoms and disease severity can vary even among sibs. Diagnosis/testing. Presently, no consensus diagnostic criteria for AVED exist; the principal criterion for diagnosis is a Friedreich ataxia-like neurologic phenotype combined with markedly reduced plasma vitamin E (α-tocopherol) concentration and a normal lipoprotein profile in the absence of known causes of malabsorption.
Ataxia with vitamin E deficiency (AVED) is a progressive disease affecting motor control and movement. Symptoms of AVED include slurred speech (dysarthria), difficulty coordinating movements ( ataxia ), numbness in the hands and feet (peripheral neuropathy), and progressive leg weakness. Some affected individuals may experience vision loss due to damage to the back of the eye ( retinitis pigmentosa ). Symptoms typically begin during childhood or adolescence and worsen with age, resulting in the need for a wheelchair by early adulthood. AVED is caused by a mutation to the TTPA gene. When this gene is damaged, vitamin E cannot be distributed throughout the body.
