The authors referred to this disorder as 'familial cutaneous collagenoma,' but noted the phenotypic overlap with Buschke-Ollendorff syndrome (BOS; 166700). Neither child had evidence of bone lesions, as found in BOS, but individuals with BOS may not show bone lesions.
Familial cutaneous collagenoma is a connective tissue nevus characterized by multiple, flesh-colored asymptomatic nodules distributed symmetrically on the trunk and upper arms (mainly on the upper two-thirds of the back), manifesting around adolescence. The skin biopsy reveals an accumulation of collagen fibers with reduction in the number of elastic fibers. Cardiac anomalies may be observed. Familial cutaneous collagenoma follows an autosomal dominant mode of transmission.
Paroxysmal tonic upgaze (PTU) of childhood is a rare and distinctive neuro-ophthalmological syndrome characterized by episodes of sustained upward deviation of the eyes.
Benign paroxysmal tonic upgaze of childhood with ataxia is a rare paroxysmal movement disorder characterized by episodes of sustained, conjugate, upward deviation of the eyes and down beating saccades in attempted downgaze (with preserved horizontal eye movements) which is accompanied by ataxic symptomatology (unsteady gait, lack of balance and movement coordination disturbances) in an otherwise healthy individual. Bilateral vertical nystagmus is associated. Symptoms generally disappear spontaneously within 1-2 years after onset.
Clinical Features Ouvrier and Billson (1988), followed by Ahn et al. (1989), Deonna et al. (1990) and Echenne and Rivier (1992), described a 'new' paroxysmal disorder of childhood, the main features of which are bouts of tonic upward deviation of the eyes associated with ataxia. Long-term outcome is favorable, with no apparent neurologic sequelae. None of the reported patients had an underlying CNS lesion that could have caused the disease. The brain of one of the children who died accidentally was normal on examination (Ouvrier and Billson, 1988). Campistol et al. (1993) suggested that this is a familial disorder. They described a father-son and a mother-son combination; in a third family, the mother of the male proband had generalized epilepsy beginning at the age of 18 years.
They distinguished the disorder from laryngeal abductor paralysis, or Gerhardt syndrome (150260), which appears to be inherited as an autosomal dominant with variable expression but may also be X-linked (308850).
Inflammatory tissue without malignant potential, [1] pseudopolyps may represent either regenerating mucosal islands between areas of ulceration, edematous polypoid tags or granulation tissue covered by epithelium. [2] There are reported cases when localized giant pseudopolyposis resulted in intestinal obstruction. [3] Residual mucosal islands between ulcerated and denuded areas of mucosa may have a polypoid appearance and are referred to as pseudopolyps. [4] Polyposis syndromes, such as familial adenomatous polyposis , could give rise to a similar appearance on imaging , although the clinical presentation would differ from that of inflammatory pseudopolyposis. [5] Numerous, confluent ulcerations with bulging of the edematous residual mucosa determine a cobblestone appearance at endoscopy. [6] [7] References [ edit ] ^ Ulcerative Colitis: Pseudopolyps; http://www.endoatlas.com/ib_uc_03.html ^ Joffe, N (November 1977).
A number sign (#) is used with this entry because of evidence that congenital hydrocephalus-2 with or without brain or eye anomalies (HYC2) is caused by homozygous mutation in the MPDZ gene (603785) on chromosome 9p23. Description Congenital hydrocephalus-2 is a congenital disorder with onset in utero. Affected individuals have hydrocephalus with variably dilated ventricles and variable neurologic sequelae. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures.
A number sign (#) is used with this entry because of evidence that congenital hydrocephalus-1 (HYC1) is caused by homozygous mutation in the CCDC88C gene (611204) on chromosome 14q32. Description Congenital hydrocephalus-1 is characterized by onset in utero of enlarged ventricles due to a disturbance of cerebrospinal fluid accumulation. Affected individuals may have neurologic impairment (summary by Drielsma et al., 2012). Hydrocephalus can also be caused by Arnold-Chiari malformation, atresia of foramen of Magendie, stenosis of aqueduct of Sylvius (307000), toxoplasmosis, hydranencephaly, etc. Furthermore, it develops in infancy or childhood in achondroplasia (100800) and in Hurler disease (607014).
A rare central nervous system malformation characterized by abnormally enlarged cerebral ventricles due to impaired cerebrospinal fluid circulation. It arises in utero and can be either acquired or inherited. The severity of the resulting brain damage depends on the duration and extent of ventriculomegaly.
Fundic gland polyps are found in 0.8 to 1.9% of patients who undergo esophagogastroduodenoscopy , and are more common in middle-aged women. [2] The risk of malignancy is very low or none, when sporadic. [3] Fundic gland polyposis is a medical syndrome with multiple fundic gland polyps.
No mutations were identified in 63 azoospermic men with Sertoli cell-only syndrome (see 305700). INHERITANCE - X-linked recessive GENITOURINARY Internal Genitalia (Male) - Infertility - Azoospermia - Meiotic arrest - Mixed testicular atrophy MOLECULAR BASIS - Caused by mutation in the testis-expressed gene-11 gene (TEX11, 300311.0001 ) ▲ Close
The authors noted that hereditary paraganglioma syndromes (see, e.g., PGL1; 168000) can be caused by mutations in genes encoding succinate dehydrogenase (see, e.g., SDHD; 602690), which result in accumulation of succinate and inhibition of PHD function with overexpression of hypoxia inducible factor (see, e.g., HIF1A; 603348).
A rare, genetic, hematologic disease characterized by increased levels of serum hemoglobin, hematocrit and erythrocyte mass, associated with elevated or inappropriately normal erythropoietin serum levels, occurring in various members of a family and with autosomal dominant inheritance.
EMG and pathologic findings were compatible with a reversible demyelinating neuropathy such as Guillain-Barre syndrome (139393). Rutkove (1998) suggested that it would be interesting to perform nerve conduction studies on the patients described by Magy et al. (1997) using experimentally induced high temperatures during times of remission, to better determine whether the nerves are prone to heat-induced conduction block.
Hereditary thermosensitive neuropathy is a rare, demyelinating, hereditary motor and sensory neuropathy characterized by reversible episodes of ascending muscle weakness, paresthesias and areflexia triggered by a febrile episode, with or without pressure palsy.
Diagnosis [ edit ] Diagnosis is mostly based on general examination and radiographs, and it should be taken when abnormality of the teeth is suspected as most of the affected teeth have normal clinical appearance. [1] Differential diagnosis is very important to have a definitive diagnosis as some radiographic or histologic features of dentine dysplasia may bear a resemblance to different disorders: [11] Dentinogenesis imperfecta Odontodysplasia Calcinosis Osteogenesis imperfecta Ehlers–Danlos syndromes Goldblatt syndrome Schimke immuno-osseous dysplasia Brachio-skeleto-genital syndrome. ... "Candidate-gene exclusion in a family with inherited non-syndromic dental disorders". Gene . 511 (2): 420–426. doi : 10.1016/j.gene.2012.09.042 .
A number sign (#) is used with this entry because of evidence that a form of dentin dysplasia type I associated with extreme microdontia and misshapen teeth is caused by homozygous mutation in the SMOC2 gene (607223) on chromosome 6q27. Description In dentin dysplasia type I, both primary and secondary dentitions are affected. The color and general morphology of the teeth are usually normal, although they may be slightly opalescent and blue or brown. Teeth may be very mobile and exfoliate spontaneously because of inadequate root formation. On radiographs, the roots are short and may be more pointed than normal.
Dentin dysplasia (DD) is a rare disorder belonging to the group of hereditary dentin defects (see this term) and is characterized by abnormal dentin structure and root development resulting in abnormal tooth development. It encompasses two subtypes: DD type I and DD type II (see these terms). Epidemiology Prevalence of DD type I is 1/100,000, and that of DD type II is unknown. Clinical description There is significant overlap between different types of DD and dentinogenesis imperfecta (DGI, see this term). Two clinical subtypes of DD have been identified. Dentin dysplasia type I (DD-1, see this term) involves sharp conical short roots or rootless teeth and is associated with premature loss of teeth.
A number sign (#) is used with this entry because of evidence that dentin dysplasia type II (DTDP2) is caused by heterozygous mutation in the DSPP gene (125485) on chromosome 4q22. Dentinogenesis imperfecta-1 (DGI1; 125490), also called dentinogenesis imperfecta Shields type II, is an allelic disorder. Description Dentin dysplasia type II is a defect of dentin formation in which the clinical appearance of the secondary teeth is normal, but the primary teeth may appear opalescent, similar to teeth affected by dentinogenesis imperfecta. The roots of the teeth are of normal shape and morphologic character. The pulp chambers and root canals of the anterior teeth and the premolars are shaped like thistle tubes because of the radicular extension of the pulp chamber.
"Acquired alpha-thalassemia in association with myelodysplastic syndrome and other hematologic malignancies" . ... Classification D ICD - 10 : D56.0 ICD - 9-CM : 282.43 OMIM : 141800 141850 142310 604131 MeSH : D017085 DiseasesDB : 448 External resources eMedicine : article/955496 GeneReviews : Alpha-Thalassemia Orphanet : 846 Scholia has a topic profile for Alpha-thalassemia . v t e Diseases of red blood cells ↑ Polycythemia Polycythemia vera ↓ Anemia Nutritional Micro- : Iron-deficiency anemia Plummer–Vinson syndrome Macro- : Megaloblastic anemia Pernicious anemia Hemolytic (mostly normo- ) Hereditary enzymopathy : Glucose-6-phosphate dehydrogenase deficiency glycolysis pyruvate kinase deficiency triosephosphate isomerase deficiency hexokinase deficiency hemoglobinopathy : Thalassemia alpha beta delta Sickle cell disease / trait Hereditary persistence of fetal hemoglobin membrane : Hereditary spherocytosis Minkowski–Chauffard syndrome Hereditary elliptocytosis Southeast Asian ovalocytosis Hereditary stomatocytosis Acquired AIHA Warm antibody autoimmune hemolytic anemia Cold agglutinin disease Donath–Landsteiner hemolytic anemia Paroxysmal cold hemoglobinuria Mixed autoimmune hemolytic anemia membrane paroxysmal nocturnal hemoglobinuria Microangiopathic hemolytic anemia Thrombotic microangiopathy Hemolytic–uremic syndrome Drug-induced autoimmune Drug-induced nonautoimmune Hemolytic disease of the newborn Aplastic (mostly normo- ) Hereditary : Fanconi anemia Diamond–Blackfan anemia Acquired: Pure red cell aplasia Sideroblastic anemia Myelophthisic Blood tests Mean corpuscular volume normocytic microcytic macrocytic Mean corpuscular hemoglobin concentration normochromic hypochromic Other Methemoglobinemia Sulfhemoglobinemia Reticulocytopenia v t e Medicine Specialties and subspecialties Surgery Cardiac surgery Cardiothoracic surgery Colorectal surgery Eye surgery General surgery Neurosurgery Oral and maxillofacial surgery Orthopedic surgery Hand surgery Otolaryngology ENT Pediatric surgery Plastic surgery Reproductive surgery Surgical oncology Transplant surgery Trauma surgery Urology Andrology Vascular surgery Internal medicine Allergy / Immunology Angiology Cardiology Endocrinology Gastroenterology Hepatology Geriatrics Hematology Hospital medicine Infectious disease Nephrology Oncology Pulmonology Rheumatology Obstetrics and gynaecology Gynaecology Gynecologic oncology Maternal–fetal medicine Obstetrics Reproductive endocrinology and infertility Urogynecology Diagnostic Radiology Interventional radiology Nuclear medicine Pathology Anatomical Clinical pathology Clinical chemistry Cytopathology Medical microbiology Transfusion medicine Other Addiction medicine Adolescent medicine Anesthesiology Dermatology Disaster medicine Diving medicine Emergency medicine Mass gathering medicine Family medicine General practice Hospital medicine Intensive care medicine Medical genetics Narcology Neurology Clinical neurophysiology Occupational medicine Ophthalmology Oral medicine Pain management Palliative care Pediatrics Neonatology Physical medicine and rehabilitation PM&R Preventive medicine Psychiatry Addiction psychiatry Radiation oncology Reproductive medicine Sexual medicine Sleep medicine Sports medicine Transplantation medicine Tropical medicine Travel medicine Venereology Medical education Medical school Bachelor of Medicine, Bachelor of Surgery Bachelor of Medical Sciences Master of Medicine Master of Surgery Doctor of Medicine Doctor of Osteopathic Medicine MD–PhD Related topics Alternative medicine Allied health Dentistry Podiatry Pharmacy Physiotherapy Molecular oncology Nanomedicine Personalized medicine Public health Rural health Therapy Traditional medicine Veterinary medicine Physician Chief physician History of medicine Book Category Commons Wikiproject Portal Outline
Overview Achilles tendinitis is an overuse injury of the Achilles (uh-KILL-eez) tendon, the band of tissue that connects calf muscles at the back of the lower leg to your heel bone. Achilles tendinitis most commonly occurs in runners who have suddenly increased the intensity or duration of their runs. It's also common in middle-aged people who play sports, such as tennis or basketball, only on the weekends. Most cases of Achilles tendinitis can be treated with relatively simple, at-home care under your doctor's supervision. Self-care strategies are usually necessary to prevent recurring episodes.
Certain health problems have also been linked to ferrets being neutered before sexual maturity was reached. [1] Certain colors of ferret may also carry a genetic defect known as Waardenburg syndrome . Similar to domestic cats , ferrets may also be affected by hairballs or dental problems. ... Ferret systemic coronavirus (FSC) [ edit ] Ferret systemic coronavirus is a coronavirus which causes ECE has a counterpart strain that has more systemic effects with a higher mortality rate. This systemic syndrome has been compared to feline infectious peritonitis in cats. [4] Aleutian disease virus [ edit ] Aleutian disease virus (ADV) is a parvovirus discovered among mink in the Aleutian Islands in the early 20th century. ... Due to speculation on the possible effects of the photoperiod effect on the ferret's adrenal gland, some owners prefer to house their pets outdoors in sheds, and not indoors. [7] Male ferrets may be chemically castrated using a deslorelin implant, which lasts for at least a year. [8] Males with a deslorelin implant are less aggressive to other males compared to males castrated surgically. [8] Congenital sensorineural deafness [ edit ] A high proportion of ferrets with white markings which form coat patterns known as a blaze, badger, or panda coat, such as a stripe extending from their face down the back of their head to their shoulder blades, or a fully white head, have a congenital deafness (partial or total) which is similar to Waardenburg syndrome in humans. [9] Ferrets without white markings, but with premature graying of the coat, are also more likely to have some deafness than ferrets with solid coat colors which do not show this trait. [10] Most albino ferrets are not deaf; if deafness does occur in an albino ferret, this may be due to an underlying white coat pattern which is obscured by the albinism. [9] In humans, Waardenburg syndrome leads to higher instances of reproductive disorders and a reduced life expectancy; these phenomena have been reported by some ferret owners, but as of 2016 [update] , there is no scientific evidence correlating these findings with congenital sensorineural deafness. [10] Except for albinism, the genetics of coat color in ferrets is not known, and the genes that cause deafness have not been identified. [9] Owners may not easily identify deafness in their ferret; affected ferrets may have behavioral or training problems, or may have greater than usual social conflict with other ferrets. [10] A ferret's hearing can be tested by a brainstem auditory evoked response test , with the ferret under general anesthesia . [10] Hairballs [ edit ] Hairballs can occur in ferrets, but are not readily expelled by vomiting like the way cats deal with them.
PNKD has also been reported as a manifestation of antiphospholipid antibody syndrome [Engelen & Tijssen 2005]. Chorea gravidarum can present with paroxysms of chorea in the first trimester of pregnancy and usually resolves after delivery. ... Glucose transporter type 1 deficiency syndrome SLC2A1 Infancy PED: Lasts 5-30 mins; Can be part of a complex neurologic syndrome incl epilepsy, developmental delay, ataxia, & spasticity. ... XL & AR / Dyskinesias Pyruvate dehydrogenase deficiency (see OMIM PS312170) Many Childhood Paroxysmal attacks of dystonia & chorea often in the form of PED Attacks can be isolated or associated w/signs & symptoms of Leigh syndrome. AD = autosomal dominant; AR = autosomal recessive; MOI = mode of inheritance; PED = paroxysmal exercise-induced dyskinesia; XL = X-linked 1.
Familial paroxysmal nonkinesigenic dyskinesia is a disorder of the nervous system that causes episodes of involuntary movement. Paroxysmal indicates that the abnormal movements come and go over time. Nonkinesigenic means that episodes are not triggered by sudden movement. Dyskinesia broadly refers to involuntary movement of the body. People with familial paroxysmal nonkinesigenic dyskinesia experience episodes of abnormal movement that are brought on by alcohol, caffeine, stress, fatigue, menses, or excitement or develop without a known cause. Episodes are not induced by exercise or sudden movement and do not occur during sleep.
A number sign (#) is used with this entry because dopa-responsive dystonia, or autosomal dominant Segawa syndrome, is caused by heterozygous mutation in the gene encoding GTP cyclohydrolase I (GCH1; 600225) on chromosome 14q13. ... An autosomal recessive form of Segawa syndrome (605407) is caused by mutation in the tyrosine hydroxylase gene (TH; 191290). ... Bartholome et al. (1993) demonstrated linkage of the Segawa syndrome to the gene for tyrosine hydroxylase. ... Gorke and Bartholome (1990) suggested the existence of an autosomal dominant and an autosomal recessive form of Segawa syndrome. It is the recessive form that shows linkage to the tyrosine hydroxylase gene on chromosome 11; see 191290.0001 and 191290.0003.
A rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age. Epidemiology The estimated European prevalence of dopa-responsive dystonia (DRD) ranges from 1/1,000,000-1/200,000. DYT5a occurs more frequently than autosomal recessive DRD (DYT5b). Clinical description Onset usually occurs in childhood (average age 6 years), and females are 2-4 times more likely to suffer from this disease than males. At onset, DYT5a is typically characterized by lower limb dystonia, most commonly with flexion-inversion of the foot (equinovarus posture) resulting in gait disturbances (that can result in stumbling and falling) with diurnal fluctuations, with symptoms worsening in the evening and improving after sleep. Physical exercise may also aggravate the symptoms. Rarely, arm dystonia, postural tremor of the hands, slowness of movements (bradykinesia) or cervical dystonia are presenting symptoms.
Clinical Characteristics Clinical Description GTP cyclohydrolase 1-deficient dopa-responsive dystonia (GTPCH1-deficient DRD), the major form of DRD, is a clinical syndrome characterized by childhood-onset dystonia and a dramatic and sustained response (complete or near-complete responsiveness of symptoms) to relatively low doses of levodopa.
Dopa-responsive dystonia (DRD) is an inherited type of dystonia that typically begins during childhood but may begin in adolescence or adulthood. Depending on the specific type of DRD, specific symptoms can vary. Features can range from mild to severe. In most cases, dystonia begins in the lower limbs and spreads to the upper limbs over time. Symptoms may include unusual limb positioning; a lack of coordination when walking or running; sleep problems; and episodes of depression. Affected people also often develop a group of movement abnormalities called parkinsonism .
Problems with sleep and episodes of depression are not seen in people with dopa-responsive dystonia caused by TH gene mutations, which is sometimes referred to as Segawa syndrome. Some people with dopa-responsive dystonia do not have an identified mutation in the GCH1 , TH , or SPR gene.
Dopamine-responsive dystonia Other names Segawa syndrome, Segawa's disease, Segawa's dystonia, hereditary progressive dystonia with diurnal fluctuation Specialty Neurology , medical genetics Dopamine-responsive dystonia ( DRD ) also known as Segawa syndrome ( SS ), is a genetic movement disorder which usually manifests itself during early childhood at around ages 5–8 years (variable start age).
Dopa-responsive dystonia (DRD) describes a group of neurometabolic disorders characterized by dystonia that typically shows diurnal fluctuations, that responds excellently to levodopa (L-dopa) and that is comprised of autosomal dominant dopa-responsive dystonia (DYT5a), autosomal recessive dopa-responsive dystonia (DYT5b) and dopa responsive dystonia due to sepiapterin reductase (SR) deficiency. Epidemiology The estimated European prevalence of DRD ranges from 1/1,000,000-1/200,000. Clinical description DRD usually has a pediatric onset, typically with lower limb dystonia that leads to gait disturbances and that usually worsens during the course of the day and is improved in the morning after sleeping. Parkinsonism can develop at a later age in some patients. Anxiety, depression, sleep disturbances and obsessive-compulsive disorders have also been reported in a few patients with DYT5a. Rarer subtypes which are inherited in an autosomal recessive manner typically show a much more severe phenotype, with onset in the first year of life with additional manifestations of global developmental delay, axial hypotonia, oculogyric crises and encephalopathy.