PMC 3953996 . PMID 24622605 . ^ Tuncer S, Demir Y, Atabay K (April 2010). "A simple surgical technique for correction of macrotia with poorly defined helical fold".
A rare skin disease characterized most typically by targetoid papules with concentric color variation symmetrically distributed on the extensor surfaces of the extremities, accompanied by mucosal involvement (in particular the oral mucosa) in the form of initial erythema with edema, progressing to superficial erosions with pseudomembrane formation. Grouping of lesions around the elbows and knees and edema of the nail folds may also be observed. The condition is commonly proceeded by prodromal symptoms of malaise, fever, and myalgias, and is usually self-limiting, although recurrent disease is seen in a subset of patients.
Keratoderma climactericum Other names Climacteric keratoderma, Haxthausen's disease, [1] [2] and Acquired plantar keratoderma, [2] Specialty Dermatology Keratoderma climactericum is a skin condition characterized by hyperkeratosis of the palms and soles beginning at about the time of menopause . [3] : 213 [4] Causes [ edit ] Keratoderma climactericum is either inherited through an abnormal gene, or it is acquired through a change in the health or environment of the individual. [5] See also [ edit ] Keratoderma List of cutaneous conditions References [ edit ] ^ Deschamps P, Leroy D, Pedailles S, Mandard JC (1986). "Keratoderma climactericum (Haxthausen's disease): clinical signs, laboratory findings and etretinate treatment in 10 patients".
Contents 1 In Australia 2 See also 3 References 4 External links In Australia [ edit ] Contagious bovine pleuropneumonia came to Australia on a shipment of five head of cattle from England in 1858, imported by one of Melbourne 's earliest settlers Mr Boadle. Three weeks later, a heifer named St Bees fell ill.
The term has been overused, however, and is sometimes inappropriately applied to llamas with aggressive personalities that are not truly "berserk". [1] [2] [3] Causes [ edit ] The condition was first observed and documented in the 1970's, upon the importation of llamas to the rural United States . [4] BLS is a result of overexposure of a juvenile llama, a cria , to humans, which results in the cria imprinting on its human handlers to such a degree that it considers them to be fellow llamas. [5] Imprinting can be caused by bottle feeding , which is utilized due to a cria rejecting its mother's milk or when there is insufficient maternal milk supply.
Previously, cases had been reported and given various names such as pulmonary mycotoxicosis, silo unloader’s syndrome, grain fever, malt fever, toxin fever, humidifier fever, mill fever, toxic alveolitis or allergic alveolitis. [1] In 1994, the National Institute for Occupational Safety and Health published case reports and highlighted the urgency for study of the syndrome. [3] Research and data collection in the agricultural industry is difficult, as many workers are casual. [2] References [ edit ] ^ a b c d e f g Seifert SA, Von Essen S, Jacobitz K, Crouch R, Lintner CP (2003).
Infrapatellar bursitis Other names Vicar's knee, [1] clergyman's knee [2] Cross section of the human knee Types Superficial, deep [3] Risk factors Kneeling, crawling [4] Diagnostic method Based on symptom and physical examination [1] Differential diagnosis Patellar tendonitis , prepatellar bursitis [5] Frequency Relatively rare [4] Infrapatellar bursitis is inflammation of the superficial or deep infrapatellar bursa . [3] Symptoms may include knee pain , swelling, and redness just below the kneecap . [2] It may be complicated by patellar tendonitis . [1] Risk factors include kneeling or crawling. [4] It may also be brought on by frequent bending of the knees while standing, squatting, running, or jumping. [1] [6] Diagnosis is generally based on symptom and physical examination . [1] When the deep bursa is involved, bending the knee generally increases the pain. [2] Other conditions that may appear similar include patellar tendonitis and prepatellar bursitis . [5] Treatment is generally by rest, alternating between ice and heat, and NSAIDs . [1] Infrapatellar bursitis is relatively rare. [4] It has also been called vicar 's knee and clergyman's knee. [1] [2] References [ edit ] ^ a b c d e f g Silver, Julie K.; Rizzo, Thomas D. (2008).
Light microscopy of an acinar cell carcinoma biopsy typically shows granular appearance. [5] Immunohistochemistry is usually positive for trypsin , chymotrypsin and lipase . [5] On genetic testing , altered genes/proteins are typically found for p53 , SMAD4 , APC , ARID1A and GNAS . [5] Treatment [ edit ] ACC can be treated with a Whipple procedure or (depending on the location within the pancreas) with left partial resection of pancreas. [ citation needed ] See also [ edit ] Pancreatic cancer References [ edit ] ^ Tobias Jeffrey S., Hochhauser, Daniel , Cancer and its Management , p. 276, 2010 (6th edn), ISBN 1118713257 , 9781118713259 ^ a b c Von Hoff": Daniel D.
A very rare, malignant, epithelial tumor of the pancreas characterized, macroscopically, by a usually large, well-circumscribed, fully or partially encapsulated, solid mass, often with hemorrhage, necrosis and cystic changes, in any portion of the pancreas and, histologically, by neoplastic cells with variable degrees of differentiation and morphology, ranging from acinar structures similar to normal pancreatic acini to large sheets of poorly differentiated neoplastic cells. Presenting symptoms are typically non-specific and include abdominal pain, weight loss, vomiting, nausea, and/or, less commonly, jaundice. Immunohistochemical evidence of acinar-specific products is observed. Association with Lynch syndrome, familial adenomatous polyposis, and pancreatic panniculitis has been reported.
TSAs are relatively rare, accounting for <1% of all colon polyps. [1] [2] Usually, TSAs are found in the distal colon and are usually less than 10 mm in size. [1] Contents 1 Histopathology 2 Epidemiology 3 References Histopathology [ edit ] Traditional serrated adenomas are characterized by ectopic crytps, pseudostratification, and a villous pattern with stretched nuclei. [3] Epidemiology [ edit ] Usually found in individuals over the age of 50 years, TSAs affect men and women equally. [1] The overall prevalence of traditional serrated adenomas is less than 1% of the general population. [3] References [ edit ] ^ a b c McCarthy, AJ; Serra, S; Chetty, R (2019). "Traditional serrated adenoma: an overview of pathology and emphasis on molecular pathogenesis" .
You can help by adding to it . ( September 2017 ) History [ edit ] It was first described by Ken Hashimoto and M. S. Pritzkar in 1973. [4] [5] See also [ edit ] List of cutaneous conditions X-type histiocytosis References [ edit ] ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007).
Hashimoto-Pritzker disease, also known as congenital self-healing reticulo-histiocytosis, is a very rare disease characterized by single or multiple red-purple or brown pimples (papules) and lumps (nodules) present at birth (congenital) or soon thereafter. Classic signs and symptoms include congenital or early development of painless papules, nodules or plaques with spontaneous regression in 2-3 months, and increase of a type of immune cells known as Langerhans cell histiocytes. Langerhans cells help regulate the immune system, and are normally found throughout the body. An excess of immature Langerhans cells usually form tumors called granulomas. Most patients have multiple lesions, but in about 25% of cases there is only one lesion.
The patient suffered mental disturbances that progressed to a coma. [1] Pathological changes occurring in individuals with a genetic disease that results in a sulfite oxidase (a molybdoenzyme) deficiency include increased plasma and urine sulfite, sulfate, thiosulfate, S-sulfocysteine and taurine; seizures, and brain atrophy/lesions; dislocated lenses; and death at an early age..
You can help by adding to it . ( July 2017 ) References [ edit ] ^ Fraser FC, Jequier S, Chen MF (1989). "Chondrodysplasia, situs inversus totalis, cleft epiglottis and larynx, hexadactyly of hands and feet, pancreatic cystic dysplasia, renal dysplasia/absence, micropenis and ambiguous genitalia, imperforate anus".
., Limber Tail Syndrome in Hunting Dogs, Sports Medicine Program Newsletter, Auburn University College of Veterinary Medicine, Winter 1995 Grayson, Peggy, Water and the dead tail syndrome, Dog World, May 5, 1995 Steiss, J; Braund, K; Wright, J; Lenz, S; Hudson, J; Brawner, W; Hathcock, J; Purohit, R; Bell, L; Horne, R (1999).
It may also result in pulpal necrosis by blocking blood supply via the apical foramen. [4] References [ edit ] ^ L Napier Souza, S Monteiro Lima Júnior FJ Garcia Santos Pimenta, AC Rodrigues Antunes Souza and R Santiago Gomez.
Chanarin-Dorfman syndrome is a condition in which fats (lipids) are stored abnormally in the body. Affected individuals cannot break down certain fats called triglycerides, and these fats accumulate in organs and tissues, including skin, liver, muscles, intestine, eyes, and ears. People with this condition also have dry, scaly skin (ichthyosis), which is usually present at birth. Additional features of this condition include an enlarged liver (hepatomegaly), clouding of the lens of the eyes (cataracts ), difficulty with coordinating movements (ataxia), hearing loss, short stature, muscle weakness (myopathy), involuntary movement of the eyes (nystagmus), and mild intellectual disability. The signs and symptoms vary greatly among individuals with Chanarin-Dorfman syndrome.
Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease; see this term) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy; see this term) can be distinguished. Epidemiology The group of diseases is very rare and the prevalence is unknown (around 50 cases have been reported in medical literature, of which 3 had NLSDM) because of the vagueness of the descriptions. Clinical description In NLSDI, generalized ichthyosis occurs in 95% of cases, moderate myopathic syndrome (or abnormal serum muscle enzyme levels), intellectual deficit and moderate hepatomegaly (or functional impairment of the liver) occur in 60% of cases, ocular (cataract, retinopathy) and hearing abnormalities (deafness) occur in 40% of cases, and neuropathy and short stature occur in 20% of cases. Etiology NLSDI/Dorfman-Chanarin disease is caused by mutations in the ABHD5 gene (3p21), NLSDM by mutations in the PNPLA2/ATGL gene (localized to 11p15.5).
Orphanet J Rare Dis. Oct 2019; 14 :234. ^ Missaglia S, Coleman RA, Mordente A, and Tavian D. ... ISSN 1388-1981. PMID 19061969 ^ Missaglia S, Coleman RA, Mordente A, and Tavian D.
A form of neutral lipid storage disease characterized by the accumulation of lipid vacuoles in leukocytes (so-called Jordan's anomaly seen in peripheral blood smears) and a variety of other cell types. The clinical picture consists of congenital ichthyosis of the congenital ichthyosiform erythroderma type together with variable multisystem involvement. Manifestations include hepatosplenomegaly, myopathy, intestinal disease, growth retardation, cataracts, sensorineural hearing loss, and intellectual disability, among others.
A number sign (#) is used with this entry because Chanarin-Dorfman syndrome, a rare form of nonbullous congenital ichthyosiform erythroderma (NCIE; see 242300), can be caused by homozygous mutation in the CGI58 gene (ABHD5; 604780). Another form of neutral lipid storage disease without ichthyosis but with myopathy (NLSDM; 610717) is caused by mutation in the PNPLA2 gene (609059). Clinical Features In a 5-year-old girl, Angelini et al. (1980) identified a syndrome, presumably inherited as an autosomal recessive, characterized by congenital ichthyosis, hepatosplenomegaly, vacuolated granulocytes (Jordans anomaly), and myopathy. Pathologic, ultrastructural and biochemical studies showed nonlysosomal, multisystem triglyceride storage. Cultured fibroblasts showed an increased uptake but decreased oxidation of labeled oleate.
Chanarin-Dorfman syndrome is an inherited condition in which fats are stored abnormally in the body. Affected individuals cannot break down certain fats called triglycerides . These fats accumulate in organs and tissues, including skin, liver, muscles, intestine, eyes, and ears. At birth, affected individuals usually present with dry, scaly skin. Additional features include an enlarged liver, cataracts, difficulty with coordinating movements (ataxia), hearing loss, short stature, muscle weakness, nystagmus, and mild intellectual disability. The signs and symptoms vary greatly among individuals with this condition.
The procedure involves counterclockwise detorsion of the bowel, surgical division of Ladd's bands, widening of the small intestine 's mesentery , performing an appendectomy , and reorientation of the small bowel on the right and the cecum and colon on the left (the appendectomy is performed so as not to be confused by atypical presentation of appendicitis at a later date).
