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Metab Dis . 1997 Sep. 20(5):723-4. . Severini MH, Silva CD, Sopelsa A, et al. High frequency of type 1 GM1 gangliosidosis in southern Brazil. Clin Genet . 1999 Aug. 56(2):168-9. . Dweikat I, Libdeh BA, Murrar H, Khalil S, Maraqa N. Gm1 gangliosidosis associated with neonatal-onset of diffuse ecchymoses and mongolianspots. Indian J Dermatol . 2011 Jan. 56(1):98-100. . . Takenouchi T, Kosaki R, Nakabayashi K, Hata K, Takahashi T, Kosaki K. Paramagnetic Signals in the Globus Pallidus as Late (...) Radiographic Sign of Juvenile-Onset GM1 Gangliosidosis. Pediatr Neurol . 2014 Oct 16. . Hanson M, Lupski JR, Hicks J, Metry D. Association of dermal melanocytosis with lysosomal storage disease: clinical features and hypotheses regarding pathogenesis. Arch Dermatol . 2003 Jul. 139(7):916-20. . Snow TM. Mongolianspots in the newborn: do they mean anything?. Neonatal Netw . 2005 Jan-Feb. 24(1):31-3. . Armstrong-Javors A, Chu CJ. Child Neurology: Exaggerated dermal melanocytosis in a hypotonic infant
, Spanish, and native peoples of the Cordoba region of Argentina, 1 in 26 individuals is a carrier. In non-Ashkenazi Jewish patients with TSD, parental consanguinity is frequent. The disease has been found in blacks and in Asians. However, no cases have been reported in Eskimo, Gypsy, or Mongolian populations. SD: Although the disease is panethnic, increased prevalences were reported in Creoles of northern Argentina, Metis Indians of northern Saskatchewan, individuals of Lebanese heritage, and Hispanic (...) activator deficiency). [ ] Electroretinographic and EEG findings are normal, but visual-evoked responses are abnormal. Lipid-laden ganglion cells appear as a gray-white area around the retinal fovea centralis (a central cherry-red spot with a halo or a perifoveal white patch) that can be detected by means of funduscopy. Ballooned neurons are present throughout the CNS. Clinical variation is noted. Specific mutations may cause abnormalities such as muscle atrophy (beginning distally), pes cavus, foot
Late onset Ito's nevus Dermal melanocytoses include a variety of congenital and acquired melanocytic lesions characterised by the presence of multiple spindle-shaped dendritic melanocytes in the dermis. These lesions are commonly found in the skin of Asians, but they can also appear in Caucasians. The Mongolianspot, nevi of Ota and Ito are the most common morphological forms. We report a case of a 24-year-old Caucasian woman presented with a 10-months history of progressive darkening
Diffuse dermal melanocytosis in two patients with Sandhoff disease and mucopolysaccharidosis VI. Dermal melanocytosis (DM) is described as the presence of ectopic melanocytes in the dermis and could be a normal cutaneous finding. However, diffuse DM or extensive Mongolianspots must be considered as an early sign of neurometabolic diseases, in particular lysosomal storage disorders. The presence of extensive DM should alert the physician to the presence of such disorders, making early diagnosis
Extensive subarachnoid venous angiomatosis with hydrocephalus in phacomatosis pigmentovascularis. An 8-month-old boy with cutaneous vascular malformations and dermal melanocytosis (Mongolianspots, figure, A) on the face and trunk was diagnosed with phacomatosis pigmentovascularis type 2. He had normal neurodevelopment, but progressive macrocephaly (figure, B). Linear brain ultrasonography showed extensive venous angiomatosis in the prominent subarachnoid space (figure, C and D). MRI revealed
with at least ONE "highly suspicious" symptom or at least TWO "less suspicious" symptoms that may be indicative of an MPS disorder (see below): Highly suspicious symptoms: characteristic facial features hearing loss corneal clouding cardiac manifestations dysostosis multiplex hepatosplenomegaly spinal cord compression hydrocephalus carpal tunnel syndrome delayed mental development or regression in mental development Less suspicious symptoms: short stature extensive Mongolianspots sleep apnea copious nasal (...) , and VI. This can help researchers decide whether to create a screening program for MPS at pediatric rheumatology clinics. This study is being done in rheumatology clinics because the first symptoms of MPS are often joint problems such as stiff joints, and rheumatologists may be the first doctors that a patient with MPS visits. The study will also evaluate the utility of dried blood spot testing for MPS. Condition or disease Intervention/treatment Mucopolysaccharidoses Mucopolysaccharidosis I
also drew upon the medieval Christian which stated that God had provided some form of alleviation for every ill, and that these things, be they animal, vegetable or mineral, carried a mark or a signature upon them that gave an indication of their usefulness. For example, seeds (used as a headache remedy) can appear to look like miniature skulls; and the white spotted leaves of (used for tuberculosis) bear a similarity to the lungs of a diseased patient. A large number of such resemblances were (...) , and if there are black spots in it, and if there is a waxy layer around it, then the patient will die, unless God restore him to life" (124:20-24). were also important in the development of throughout the Middle Ages, where the care of sick members of the community was an important obligation. These monastic hospitals were not only for the monks who lived at the monasteries but also the pilgrims, visitors and surrounding population. The monastic tradition of herbals and botany influenced Medieval medicine as well
An Unusual Case of Congenital Dermal Melanocytosis Dermal melanocytosis is characterized by the presence of ectopic melanocytes in the dermis. The most common forms include the Mongolianspot, blue nevus, nevus of Ota, and nevus of Ito. Some types of dermal melanocytosis do not fit into any of these morphologic categories, however. Our case demonstrated an extensive amount of uniform deep blue patches of nevi with unilateral distribution on the left face, neck, chest, shoulder, and back
Malignant melanoma transformation within a nevus of Ito. The mongolianspot, nevus of Ota, and nevus of Ito are the most common morphologic forms of the dermal melanocytoses, a group of benign pigmented lesions histologically characterized by the presence of melanocytes within the dermis. Nevus of Ito is clinically distinct, presenting with unilateral, bluish gray, patchy discolorations in the skin within the distributions of the posterior supraclavicular and lateral cutaneous brachial nerves
. Women will be asked to provide a spot urine sample. These samples will be sent periodically to the NCI biorespository during the course of the study for testing. A portion of a sample for each participant will be kept in Ulaanbaatar in case of problems in delivery to the United States. The following hormones will be evaluated: testosterone, androstenedione, dehydroepiandrosterone (DHEA), DHEA-sulfate, estrone, estradiol, estriol, progesterone, prolactin, placental lactogen, IGF-1 and IGFBP-3, VEGF (...) will also be determined. (These questionnaires will have been pilot tested and revised before the start of this study.) The Global Physical Activity Questionnaire, developed by the World Health Organization, will assess physical activity. Mean and median premenopausal hormone concentrations of previously collected blood samples from women in the United States who are at high breast cancer risk will be compared with the Mongolian samples. In addition, Chinese data will be compared if available. Condition
Phakomatosis cesioflammea with late-onset glaucoma and acquired nevus spilus-like lesion - 15 years of follow-up. Phakomatosis pigmentovascularis is a very rare disease characterized by coexistence of a capillary malformation with various melanocytic lesions, including dermal melanocytosis (Mongolianspots), nevus spilus, and nevus of Ota. As of now about 200 cases have been reported, most are of Japanese origin and about half of reported cases are associated with various systemic involvement
Laser Treatment of 26 Japanese Patients with MongolianSpots. Mongolianspots are congenital hyperpigmented areas of varying size and shape and are usually confluent grayish-blue in color. They are found most frequently in the sacral region and typically disappear during childhood. Occasionally, they persist to adulthood.We used Q-switched alexandrite laser treatment for Mongolianspots and examined therapeutic outcomes of 26 Japanese patients who consulted our department.We retrospectively (...) compared 26 Japanese patients before and after treatment.A good therapeutic outcome was achieved overall, but some adult female patients subsequently developed severe postinflammatory hyperpigmentation. Sacral Mongolianspots were more laser-resistant than extrasacral Mongolian spots.The outcome correlated with the age of patients at the initiation of treatment; therefore, sacral and extrasacral Mongolianspots should be treated before 20 years of age. To avoid severe postinflammatory hyperpigmentation
screening examination Capillary or macular haemangioma: Also known as stork mark/bites, or salmon patch; found around the eyes and nape of the neck in 30-50% of babies. Those around eyes normally disappear in the first year and commonly persist if on the nape of the neck. Blue-black pigmented area: Also known as Mongolian blue spots; they are seen at the base of the back and on the buttocks. These are common in dark-skinned parents but can occur in Caucasian infants. They normally disappear over
. The skin changes are virtually pathognomonic for the disease. The skin may also show and excessive Mongolianspots. [ ] Other features Macrocephaly - common with a short trunk length compared to the extremities. Short stature - develops gradually after the age of 3. Airways obstruction - from accumulation of heparan and dermatan sulfate in the trachea. Cardiomyopathy and valvular abnormalities (eg, aortic regurgitation - from cardiac infiltration). Flexion contractures. Progressive deafness - usually (...) of a rare disease. Orphanet J Rare Dis. 2011 Nov 76:72. doi: 10.1186/1750-1172-6-72. ; Clinical Presentation of Mucopolysaccharidosis Type II (Hunter's Syndrome). Ann Med Health Sci Res. 2012 Jan2(1):87-90. doi: 10.4103/2141-9248.96946. ; Significance of extensive Mongolianspots in Hunter's syndrome. Br J Dermatol. 2003 Jun148(6):1173-8. ; Retinitis pigmentosa and mucopolysaccharidosis type II: an extremely attenuated phenotype. J Inherit Metab Dis. 2009 Aug32(4):582-3. Epub 2009 Jul 9
causing - eg, , Mongolian blue spot (a congenital mark), which can resemble a bruise. Medical conditions predisposing to fractures - eg, metabolic bone disease in neonates, , copper deficiency, , leukaemia and disseminated . , which may be a rare cause of subdural haematoma. Investigations [ ] Depending on the presentation, investigations may be required. Investigations which may be of relevance include: Blood tests: FBC, clotting screen. Skeletal survey or bone scan: Where physical abuse is suspected
was originally detected in amniotic fluid (98%) and was confirmed in the term placenta (100%), as well as in the blood (10%) and urine sediment (100%) of the neonate. There was intrauterine and postnatal growth retardation, but otherwise the newborn manifested no gross abnormalities. At 9 months of age moderate psychomotor retardation, central hypotonia with peripheral hypertonia, numerous minor morphogenetic variants, marked kyphosis, and extensive Mongolianspot were observed. To our knowledge
Overturning the diagnosis of child abuse. Three cases, one of bullous impetigo, one of a Mongolianspot, and one of constriction of the toe by a hair, were mistakenly diagnosed as cases of child abuse. The diagnosis of child abuse is not usually simple and requires a careful evaluation of the injuries and the family if cases are not to be either overlooked or overdiagnosed.
Could you tell me the incidence of mongolian blue spot amongst south asian babies. Could you tell me the incidence of mongolian blue spot amongst south asian babies. - Trip Database or use your Google+ account Turning Research Into Practice ALL of these words: Title only Anywhere in the document ANY of these words: Title only Anywhere in the document This EXACT phrase: Title only Anywhere in the document EXCLUDING words: Title only Anywhere in the document Timeframe: to: Combine searches (...) types including images, videos, patient information leaflets, educational courses and news. For further information on Trip click on any of the questions/sections on the left-hand side of this page. But if you still have questions please contact us via firstname.lastname@example.org Could you tell me the incidence of mongolian blue spot amongst south asian babies. In answering this question we have used the term “Mongolianspot” as being synonymous with “Mongolian blue spot” eMedicine, has a chapter
Persistent Mongolianspots in Chinese adults. Four Chinese females aged 21-35 years with Mongolianspots are reported. Two patients had the spots on their arms while the other two had the spots on their shoulders. The persistence of Mongolianspots in Chinese adults has not been previously reported.