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Mongolian Spot

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41. Cutis Marmorata Telangiectatica Congenita (Diagnosis)

cases and review of the literature. Genet Couns . 2005. 16(2):117-28. . Morgan JM, Naisby GP, Carmichael AJ. Cutis marmorata telangiectatica congenita with hypoplasia of the right iliac and femoral veins. Br J Dermatol . 1997 Jul. 137(1):119-22. . Torrelo A, Zambrano A, Happle R. Large aberrant Mongolian spots coexisting with cutis marmorata telangiectatica congenita (phacomatosis pigmentovascularis type V or phacomatosis cesiomarmorata). J Eur Acad Dermatol Venereol . 2006 Mar. 20(3):308-10. . Du G (...) , Zhang X, Zhang T. Cutis marmorata telangiectatica congenita and aberrant Mongolian spots: Type V phacomatosis pigmentovascularis or phacomatosis cesiomarmorata. JAAD Case Rep . 2016 Jan. 2 (1):28-30. . Elahi B, Ramyar A. Hemophagocytic lymphohistiocytosis in a neonate with cutis marmorata telangiectatica congenita. Saudi Med J . 2006 Nov. 27(11):1751-3. . Vogel AM, Paltiel HJ, Kozakewich HP, Burrows PE, Mulliken JB, Fishman SJ. Iliac artery stenosis in a child with cutis marmorata telangiectatica

2014 eMedicine.com

42. Nevi of Ota and Ito (Treatment)

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 nevus Congenital or acquired Blue papules

2014 eMedicine.com

43. Mucopolysaccharidoses Types I-VII (Overview)

, 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

44. Cutis Marmorata Telangiectatica Congenita (Overview)

cases and review of the literature. Genet Couns . 2005. 16(2):117-28. . Morgan JM, Naisby GP, Carmichael AJ. Cutis marmorata telangiectatica congenita with hypoplasia of the right iliac and femoral veins. Br J Dermatol . 1997 Jul. 137(1):119-22. . Torrelo A, Zambrano A, Happle R. Large aberrant Mongolian spots coexisting with cutis marmorata telangiectatica congenita (phacomatosis pigmentovascularis type V or phacomatosis cesiomarmorata). J Eur Acad Dermatol Venereol . 2006 Mar. 20(3):308-10. . Du G (...) , Zhang X, Zhang T. Cutis marmorata telangiectatica congenita and aberrant Mongolian spots: Type V phacomatosis pigmentovascularis or phacomatosis cesiomarmorata. JAAD Case Rep . 2016 Jan. 2 (1):28-30. . Elahi B, Ramyar A. Hemophagocytic lymphohistiocytosis in a neonate with cutis marmorata telangiectatica congenita. Saudi Med J . 2006 Nov. 27(11):1751-3. . Vogel AM, Paltiel HJ, Kozakewich HP, Burrows PE, Mulliken JB, Fishman SJ. Iliac artery stenosis in a child with cutis marmorata telangiectatica

2014 eMedicine.com

45. Mucopolysaccharidoses Types I-VII (Treatment)

, 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. Natural history of extensive Mongolian spots in mucopolysaccharidosis type II (Hunter syndrome): a survey among 52 Japanese patients. J Eur Acad Dermatol Venereol . 2007 Sep. 21(8

2014 eMedicine.com

46. Cutis Marmorata Telangiectatica Congenita (Treatment)

and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature. Genet Couns . 2005. 16(2):117-28. . Morgan JM, Naisby GP, Carmichael AJ. Cutis marmorata telangiectatica congenita with hypoplasia of the right iliac and femoral veins. Br J Dermatol . 1997 Jul. 137(1):119-22. . Torrelo A, Zambrano A, Happle R. Large aberrant Mongolian spots coexisting with cutis marmorata telangiectatica congenita (phacomatosis pigmentovascularis type (...) V or phacomatosis cesiomarmorata). J Eur Acad Dermatol Venereol . 2006 Mar. 20(3):308-10. . Du G, Zhang X, Zhang T. Cutis marmorata telangiectatica congenita and aberrant Mongolian spots: Type V phacomatosis pigmentovascularis or phacomatosis cesiomarmorata. JAAD Case Rep . 2016 Jan. 2 (1):28-30. . Elahi B, Ramyar A. Hemophagocytic lymphohistiocytosis in a neonate with cutis marmorata telangiectatica congenita. Saudi Med J . 2006 Nov. 27(11):1751-3. . Vogel AM, Paltiel HJ, Kozakewich HP, Burrows

2014 eMedicine.com

47. Nevi of Ota and Ito (Follow-up)

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 nevus Congenital or acquired Blue papules

2014 eMedicine.com

48. Mucopolysaccharidoses Types I-VII (Follow-up)

, 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. Natural history of extensive Mongolian spots in mucopolysaccharidosis type II (Hunter syndrome): a survey among 52 Japanese patients. J Eur Acad Dermatol Venereol . 2007 Sep. 21(8

2014 eMedicine.com

49. Cutis Marmorata Telangiectatica Congenita (Follow-up)

and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature. Genet Couns . 2005. 16(2):117-28. . Morgan JM, Naisby GP, Carmichael AJ. Cutis marmorata telangiectatica congenita with hypoplasia of the right iliac and femoral veins. Br J Dermatol . 1997 Jul. 137(1):119-22. . Torrelo A, Zambrano A, Happle R. Large aberrant Mongolian spots coexisting with cutis marmorata telangiectatica congenita (phacomatosis pigmentovascularis type (...) V or phacomatosis cesiomarmorata). J Eur Acad Dermatol Venereol . 2006 Mar. 20(3):308-10. . Du G, Zhang X, Zhang T. Cutis marmorata telangiectatica congenita and aberrant Mongolian spots: Type V phacomatosis pigmentovascularis or phacomatosis cesiomarmorata. JAAD Case Rep . 2016 Jan. 2 (1):28-30. . Elahi B, Ramyar A. Hemophagocytic lymphohistiocytosis in a neonate with cutis marmorata telangiectatica congenita. Saudi Med J . 2006 Nov. 27(11):1751-3. . Vogel AM, Paltiel HJ, Kozakewich HP, Burrows

2014 eMedicine.com

51. Child Abuse and Neglect: Sexual Abuse (Overview)

, and draining pelvic abscess Anogenital bruising Bruising in the anogenital area most often represents some type of anogenital trauma, either accidental or abusive in origin. Differential diagnoses are as follows: Local injury, including straddle injury, accidental impaling injury, accidental blunt trauma, and abusive injury Dermatologic conditions, such as mongolian spots, lichen sclerosis, and vascular nevi Systemic manifestations of other disorders, such as bleeding diathesis and vasculitis Anogenital

2014 eMedicine Pediatrics

53. Child Abuse and Neglect: Sexual Abuse (Diagnosis)

, and draining pelvic abscess Anogenital bruising Bruising in the anogenital area most often represents some type of anogenital trauma, either accidental or abusive in origin. Differential diagnoses are as follows: Local injury, including straddle injury, accidental impaling injury, accidental blunt trauma, and abusive injury Dermatologic conditions, such as mongolian spots, lichen sclerosis, and vascular nevi Systemic manifestations of other disorders, such as bleeding diathesis and vasculitis Anogenital

2014 eMedicine Pediatrics

54. GM1 Gangliosidosis (Treatment)

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 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

2014 eMedicine Pediatrics

55. GM2 Gangliosidoses (Treatment)

, 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

56. GM2 Gangliosidoses (Overview)

, 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

57. GM1 Gangliosidosis (Overview)

, 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

58. Child Abuse and Neglect: Physical Abuse (Treatment)

laceration (also see previous CT scan). Example of ear bruising. Ear bruising is a rare accidental injury. This 10-month-old child was intubated for abusive head trauma (AHT) and spiral femur fracture and had this ear bruising in addition to other facial bruising. Mongolian spots on a dark-skinned child. Mongolian spots on a light-skinned child. Mongolian spots can have a greenish cast depending on the skin color of the child. Faint abdominal bruising. This toddler had elevated liver function test

2014 eMedicine Pediatrics

59. Nevi of Ota and Ito (Diagnosis)

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

60. Child Abuse and Neglect: Physical Abuse (Follow-up)

laceration (also see previous CT scan). Example of ear bruising. Ear bruising is a rare accidental injury. This 10-month-old child was intubated for abusive head trauma (AHT) and spiral femur fracture and had this ear bruising in addition to other facial bruising. Mongolian spots on a dark-skinned child. Mongolian spots on a light-skinned child. Mongolian spots can have a greenish cast depending on the skin color of the child. Faint abdominal bruising. This toddler had elevated liver function test

2014 eMedicine Pediatrics

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