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Mongolian Spot

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21. CRACKCast E066 – Child Maltreatment

abuse and 6 DDx for sexual abuse Physical: ALTE (now known as….BRUE) Seizure Intestinal injuries (eg bike handle) Pancreatitis (commonly drug induced when not intentional trauma) Liver / spleen injury Underlying coagulopathy familial – acquired or leukemia Glutaric aciduria type I (causing ICH) Osteogenesis imperfecta Sexual : Accidental trauma (straddle injury) Hymen remains uninjured dermal melanocytosis (formerly called mongolian spots ), lichen sclerosus atrophicus Unknown cause (...) mimic child abuse? Rashes: Phytophotodermatitis Due to a phototoxic reaction that develops on sun-exposed areas that have been in contact with fruit juices Appearance: erythema, blistering then becoming brown skin rashes Dermal melanocytosis (formerly called mongolian spots ) Bullous impetigo Confused with second degree burns Trauma: Unintentional burns Accidental fractures (eg clavicle or humerus at birth, Toddlers # (aka. CAST fracture)) Osteogenesis imperfecta 1:20000 incidence; multiple types

2017 CandiEM

22. Newborn Nursing Care Pathway

spots, capillary hemangiomas, harlequin sign • Skin pinch immediately returns to original state • Skin is sensitive to touch Parent education/ Anticipatory Guidance • Skin-to-skin • Need for tactile stimulation Norm and Normal Variations • Refer to POS • Acrocyanosis resolved Parent education/ Anticipatory Guidance • Refer to POS • Skin variations Milia Cracks Peeling Hemangiomas Mongolian spots – frequently in darkly pigmented infants such as Asian, First Nation, African-American > Most often (...) . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 38 Immunization and Communicable Diseases . . . . . . . . . . . . . . . . . . . 39 Safety and Injury Prevention . . . . . . . . . . . . . . . . . . . . . . . . . . . 41 Screening/Other Newborn Blood Spot Screening . . . . . . . . . . . . . . . . . . . . . . . . . 42 Hearing Screening . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 43 Biliary Atresia . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 43 Glossary of Abbreviations

2015 British Columbia Perinatal Health Program

23. The spectrum of benign dermal dendritic melanocytic proliferations. (PubMed)

characterized with papulonodular lesions, its variants may show all of the aforementioned presentations. Mongolian spot, naevus of Ota and naevus of Ito are patchy DMs distinguished by their specific localizations. Apart from these classical forms, many atypical variants without unique clinicopathological characteristics have been described in the literature making the nomenclature of DMs more complicated. However, congenital dermal melanocytosis and acquired dermal melanocytosis seem to be crucial umbrella

2019 Journal of the European Academy of Dermatology and Venereology

25. Medical Eponyms: Recognizing the Medical Greats

Coincidence The French physician, Armand Trousseau (1801-1867), was another prolific physician of his era. His name is associated with several eponyms, including Trousseau sign (spasm in hypocalcemia) and Trousseau spot (red streak from scratching the skin in meningitis). As the “physician-in-chief” of the Hotel Dieu in Paris, he published several lecture texts. One of these texts was entitled “Phlegmasia Alba Dolens.” In this lecture about painful white inflammation caused by venous thrombosis, Trousseau (...) , in the context of Victorian England, his description was somewhat liberal. Down placed Caucasians on the same racial spectrum and from the same progenitor as Mongols. During his time, many were using the idea [xviii]. “Mongolism” was the preferred term until the 1960s, when a Mongolian delegate at the [xix]. It is interesting that Down not Dominique was honored with the eponymn, since Down’s colorful description gave birth to the controversial language. The French prefer the term “Trisomie 21

2014 Clinical Correlations

26. Diagnostic challenges in a child with early onset desmoplastic medulloblastoma and homozygous variants in MSH2 and MSH6. (PubMed)

macules and other pigmentation alterations. We report on a 13-month-old girl suspected of having CMMRD due to a desmoplastic medulloblastoma and a striking skin pigmentation that included multiple café-au-lait macules, hypopigmented areas and Mongolian spots. Whole-exome sequencing revealed homozygosity for MSH2 variant p.(Leu92Val) and MSH6 variant p.(Val809del), both variants of uncertain significance (VUS). Immunohistochemical analysis of the tumour tissue showed expression of all four MMR proteins

2018 European Journal of Human Genetics

27. A physician lurked on Facebook mom groups. Here’s what she found.

most of the time. Nearly every day, though, I run into questions like these (paraphrased): “Help! My baby has a fever, what do I do? I have a pediatrician, but I clearly trust you guys more than that guy,” or, even better, “My child is ill and also having mental status changes that are rather concerning. Also, of equal importance, I need you to tell me exactly when the Mongolian spot on her back will disappear. Thanks in advance!” The responses can be even more perplexing (also paraphrased): “Grape

2018 KevinMD blog

28. A female infant with phacomatosis pigmentovascularis and congenital chylous ascites: A case report. (Full text)

A female infant with phacomatosis pigmentovascularis and congenital chylous ascites: A case report. Phacomatosis pigmentovascularis (PPV) is a rare syndrome characterized by capillary malformation and pigmentary nevus. Congenital chylous ascites (CCA) is also a rare disease that results from maldevelopment of the lymphatic system. We report a case of a 5-month-old girl, who had both PPV and CCA.A 5-month-old girl is reported, who presented extensive nevus flammeus and an aberrant Mongolian spot (...) with congenital chylous ascites.The expression of extensive nevus flammeus and an aberrant Mongolian spot with congenital chylous ascites, that was diagnosed as type IIb phacomatosis pigmentovascularis.Conservative treatment included administration of somatostatin, MCT-based diet or TPN with drainage of ascitic fluid. Surgery was taken into account after failed conservative treatments. Before surgery, it is necessary to locate the abnormal lymphatic vessels.Conservative treatment and surgery sometimes

2018 Medicine PubMed

29. Bruising

[ ; ]. Differential diagnosis What else might it be? Skin conditions which might be mistaken for bruising include: Linear eruptions Allergic contact dermatitis. See the CKS topic on for more information. Phytophotodermatitis — an inflammatory and pigmentary reaction of the skin to light, following contact with phototoxic substances from certain plants, such as giant hogweed. Stretch marks (striae). Non-linear eruptions Slate-grey naevi (Mongolian blue spots) — macular blue-grey non-tender macules present at birth (...) anaemia, which may be associated with malignancy. Jaundice — suggests liver disease. Petechiae (tiny, round, non-blanching, pinpoint flat spots less than 3 mm in diameter) — for example at clothing line pressure sites may indicate a platelet disorder; or if in the distribution of the superior vena cava they may follow coughing, vomiting, or strangulation. Palpable purpura (typically 3–10 mm in diameter) — suggests an underlying systemic vasculitis, such as . Brittle hair and nails — suggests

2016 NICE Clinical Knowledge Summaries

30. Low Prevalence of Enzootic Equine Influenza Virus among Horses in Mongolia (Full text)

of the nine horse specimens yielded an influenza A virus. None of the 131 herder households surveyed had recently vaccinated their horses against EIV. It seems likely that sporadic EIV is enzootic in multiple Mongolian aimags. This finding, the infrequent use of EIV vaccination, periodic prevalence of highly pathogenic avian influenza, and the mixing of domestic and wild equid herds suggest that Mongolia may be a hot spot for novel EIV emergence. (...) Low Prevalence of Enzootic Equine Influenza Virus among Horses in Mongolia Horses are critically important for Mongolian herders' livelihoods, providing transportation and food products, and playing important cultural roles. Equine influenza virus (EIV) epizootics have been frequent among Mongolia's horses, with five occurring since 1970. We sought to estimate the prevalence for EIV infection among horses and Bactrian camels with influenza-like illness between national epizootics. In 2016-2017

2017 Pathogens PubMed

31. Immune responsiveness to phytohemagglutinin displays species but not sex differences in three anuran species (Full text)

and species differences of PHA response in three anurans, Asiatic toads (Bufo gargarizans), Dark-spotted frogs (Pelophylax nigromaculatus) and Mongolian toads (Pseudepidalea raddei), captured in northern regions of Anhui Province (China). Footpad thickness was measured prior to (0 h) and after (6, 12, 24, 48 and 72 h) a PHA injection and normalized against saline injection in the opposite footpad. Body mass was recorded at the beginning (0 h) and end of each assay (72 h). Results showed effects of PHA (...) assay, sex and taxa on body mass. Relative maximum swelling response (PHAmax) ranged from 18.58-29.75%, 9.77 to 20.56% and 21.97 to 31.78% and its occurrence over time was apparent 10.6-19.72 h , 7.74-14.01 h and 17.39-23.94 h postinjection for Asiatic toads, Dark-spotted frogs and Mongolian toads, respectively. Finally, the magnitude or timing of PHAmax in Dark-spotted frogs was significantly thinner and faster than in Mongolian toads, and Asiatic toads had an in-between value, not different from

2017 PeerJ PubMed

32. Mosaic activating mutations in GNA11 and GNAQ are associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis. (Full text)

Mosaic activating mutations in GNA11 and GNAQ are associated with Phakomatosis Pigmentovascularis and Extensive Dermal Melanocytosis. Common birthmarks can be an indicator of underlying genetic disease but are often overlooked. Mongolian blue spots (dermal melanocytosis) are usually localized and transient, but they can be extensive, permanent, and associated with extracutaneous abnormalities. Co-occurrence with vascular birthmarks defines a subtype of phakomatosis pigmentovascularis, a group

2016 Journal of Investigative Dermatology PubMed

33. Picosecond pulse duration laser treatment for dermal melanocytosis in Asians : A retrospective review (Full text)

. Subjects and methods: A retrospective photographic review of 10 patients with dermal pigmented lesions was performed (ages from 4 months to 52 yr), 6 nevus of Ota, 3 ectopic Mongolian spots and 1 Mongolian spots. The patients were treated in the Ohshiro Clinic with picosecond 755 nm alexandrite laser (ps-Alex laser) and picosecond 1064 nm Nd:YAG laser (ps-Nd:YAG laser) from April 2014 to December 2015 (ps-Alex laser, 7 patients; ps-Nd:YAG laser, 3 patients, 1 to 3 treatment sessions). Improvement

2016 Laser therapy PubMed

34. Dermal melanocytosis and associated disorders. (PubMed)

Dermal melanocytosis and associated disorders. Dermal melanocytosis is commonly seen in the newborn period and is frequently a concern to parents and providers. Four clinically distinct entities are recognized: nevus of Ota, nevus of Ito, Mongolian spots, and dermal melanocyte hamartoma. This article reviews these disorders, with special emphasis on melanocyte biology and important associated systemic disorders such as rare malignant transformations and inborn errors of metabolism.Recent (...) findings have highlighted the increased risk of malignancy in patients with nevus of Ota, especially ocular, central nervous system, and cutaneous tumors. Although rarely seen, cutaneous melanoma occurs in association with nevus of Ito. Extensive, dark, and progressive Mongolian spots may be more likely than isolated lesions to be associated with inborn errors of metabolism, such as Hurler's disease and monosialotetrahexosylganglioside (GM1) gangliosidosis. New laser technology utilizing Q-switched

2015 Current Opinion in Pediatrics

35. Phakomatosis Pigmentovascularis Associated With Sturge-Weber Syndrome, Ota Nevus, and Congenital Glaucoma. (Full text)

on the face along the 3 branches of the trigeminal nerve and distributed along the trunk, arms, and legs. Mongolian spots spread over his frontal and temporal areas of the bilateral face, waist, buttocks, thigh, abdomen, and back. Infantile glaucoma was found in both eyes. Ota nevus were found in the both eyes. Optic coherent tomography (OCT) scans revealed increased thickness of choroid. Case 3 was a 5-year-old boy. Besides Ota nevus and infantile glaucoma in both eyes, color Doppler ultrasonography

2015 Medicine PubMed

36. Nevi of Ota and Ito (Overview)

migration of melanocytes from the neural crest to basal layer of the epidermis. See the image below. Nevus of Ito. Courtesy of DermNet New Zealand (http://www.dermnetnz.org/assets/Uploads/lesions/melanocytosis-ito.jpg). Additionally, the Medscape article may be of interest. Next: Pathophysiology The etiology and pathogenesis of nevi of Ota and Ito are not known. Although unconfirmed, nevus of Ota and other dermal melanocytic disorders, such as nevus of Ito, blue nevus, and Mongolian spots, may represent (...) or gray speckled coalescing macules or patches Nevus of Ota: Unilateral, rarely bilateral, on forehead, temple, zygomatic, or periorbital areas Nevus of Ito: Shoulder and upper arm areas Increased dermal melanocytes, with surrounding fibrosis and melanophages Mongolian spot Birth Poorly demarcated large blue-to-gray patches that tend to spontaneously resolve by age 3-6 y Most frequently on lumbosacral areas, buttocks, and rarely, other areas Increased dermal melanocytes; no surrounding fibrosis Blue

2014 eMedicine.com

37. Skin, Congenital Hairy Nevi

and for images. Dysplastic melanocytic nevi: [ ] A high incidence of melanoma is observed in patients with dysplastic melanocytic nevi. Since removing all the pigmented lesions in these patients is impractical, lesions demonstrating recent changes in color and appearance are removed. Lentigo: This condition occurs in areas exposed to the sun and possesses a uniform dark-brown color and an irregular outline. [ ] Mongolian spots: These lesions typically occur in the lumbosacral region as a bluish discoloration (...) resembling a bruise. [ ] Click to view images of Mongolian spots. Nevus sebaceous: [ ] This lesion is usually located on the scalp or on the face as a single lesion and is present at birth. A nevus sebaceous is a circumscribed, slightly elevated hairless plaque, typically not pigmented like a CNN. In puberty, the lesion becomes verrucous and nodular and may show areas of linear distribution. See Medscape Reference article for more information and for images of this lesion. Nevus spilus: A nevus spilus

2014 eMedicine Surgery

38. GM2 Gangliosidoses (Diagnosis)

, 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

2014 eMedicine Pediatrics

39. GM1 Gangliosidosis (Diagnosis)

, Libdeh BA, Murrar H, Khalil S, Maraqa N. Gm1 gangliosidosis associated with neonatal-onset of diffuse ecchymoses and mongolian spots. 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. Mongolian spots 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: A harbinger of GM1 gangliosidosis. Neurology . 2014 Oct 21. 83(17):e166-8. . . Suzuki Y, Sakuraba H, Oshima A, et al. Clinical and molecular heterogeneity in hereditary beta-galactosidase

2014 eMedicine Pediatrics

40. Mucopolysaccharidoses Types I-VII (Diagnosis)

, Kaizer A, et al. Longitudinal changes in linear growth and BMI in the mucopolysaccharidoses. Molecular Genetics and Metabolism . 2016 Feb. 117(2):S80-S81. . Ashrafi MR, Shabanian R, Mohammadi M, Kavusi S. Extensive Mongolian spots: a clinical sign merits special attention. Pediatr Neurol . 2006 Feb. 34(2):143-5. . Panteliadis CP, Karatza ED, Tzitiridou MK, Koliouskas DE, Spiroglou KS. Lissencephaly and mongolian spots in Hurler syndrome. Pediatr Neurol . 2003 Jul. 29(1):59-62. . Nemes A, Timmermans (...) RG, Wilson JH, et al. The mild form of mucopolysaccharidosis type I (Scheie syndrome) is associated with increased ascending aortic stiffness. Heart Vessels . 2008 Mar. 23(2):108-11. . Demitsu T, Kakurai M, Okubo Y, et al. Skin eruption as the presenting sign of Hunter syndrome IIB. Clin Exp Dermatol . 1999 May. 24(3):179-82. . Sapadin AN, Friedman IS. Extensive Mongolian spots associated with Hunter syndrome. J Am Acad Dermatol . 1998 Dec. 39(6):1013-5. . Ochiai T, Suzuki Y, Kato T, et al

2014 eMedicine.com

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