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Debasish, Sanyal
- A Unique Case of Ito Syndrome presenting with Juvenile Myoclonic Epilepsy and Normal Intelligence
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Authors
Ranjan Bhattacharya
1,
Suddhendu Chakraborty
2,
Sanyal Debasish
2,
Sumita Bhattacharyya
3,
Madhab Mandal
4,
Jayita Mazumder
1
Affiliations
1 Department of Psychiatry, Murshidabad Medical College & Hospital, Berhampore, West Bengal, IN
2 Department of Psychiatry, Calcutta National Medical College & Hospital, Kolkata, West Bengal, IN
3 Department of Dermatology, IPGME & R, Kolkata, West Bengal, IN
4 Department of General Medicine, Murshidabad Medical College & Hospital, Berhampore, West Bengal, IN
1 Department of Psychiatry, Murshidabad Medical College & Hospital, Berhampore, West Bengal, IN
2 Department of Psychiatry, Calcutta National Medical College & Hospital, Kolkata, West Bengal, IN
3 Department of Dermatology, IPGME & R, Kolkata, West Bengal, IN
4 Department of General Medicine, Murshidabad Medical College & Hospital, Berhampore, West Bengal, IN
Source
Asian Journal of Nursing Education and Research, Vol 4, No 4 (2014), Pagination: 417-420Abstract
Hypomelanosis of Ito (HI) appears to be the third most common neurocutaineous disease, second only to neurofibromatosis and tuberous sclerosis. Approximately three fourths of the patients with typical skin lesions have systemic manifestations. A few cases have been associated with musculoskeletal and neurological manifestations. Male-to-female ratios vary. The key sign consists of macular hypo pigmented skin lesions presenting by 2 years after birth in 90% patients.
References
- Pascual-Castroviejo I, Lopez-Rodriguez L, de la Cruz Medina M, Salamanca-Maesso C, Roche Herrero C. Hypomelanosis of Ito. Neurological complications in 34 cases. Can J Neurol Sci. May 1988; 15(2):124-9.
- Ruggieri M, Pavone L. Hypomelanosis of Ito: clinical syndrome or just phenotype? J Child Neurol. Oct 2000;15(10):635-44.
- Gatter N, Hoppe B, Nutzenadel F, Waldherr R, Querfeld U. A cutaneous disease with multisystem involvement: hypomelanosis of Ito may be associated with proteinuria, focal segmental glomerulosclerosis and end-stage renal disease. Nephrol Dial Transplant. Mar 8 2007
- Ruiz-Maldonado R, Toussaint S, Tamayo L, Laterza A, del Castillo V. Hypomelanosis of Ito: diagnostic criteria and report of 41 cases
- Sybert VP. Hypomelanosis of Ito: a description, not a diagnosis. J Invest Dermatol. Nov 1994;103(5 Suppl):141S-143S
- Jozwiak S, Schwartz RA, Janniger CK, Bielicka-Cymerman J. Usefulness of diagnostic criteria of tuberous sclerosis complex in pediatric patients. J Child Neurol. Oct 2000; 15(10):652-9.
- Rosman NP. Incontinentia Pigmenti. In: Gomez MR, ed. Neurocutaneous Diseases: A Practical Approach. Boston: Butterworths; 1987:294-300.
- Huggins RH, Schwartz RA, Janniger CK. Vitiligo. Acta Dermatovenerol Alp Panonica Adriat. Dec 2005; 14(4):137-42, 144-5.
- Huggins RH, Janusz CA, Schwartz RA. Vitiligo: a sign of systemic disease. Indian J Dermatol Venereol Leprol. Jan-Feb 2006; 72(1):68-71.
- Sybert VP, Pagon RA, Donlan M, Bradley CM. Pigmentary abnormalities and mosaicism for chromosomal aberration: association with clinical features similar to hypomelanosis of Ito. J Pediatr. Apr 1990; 116(4):581-6.
- Sridhar Surg. Cdr J ;Narayan Surg. Cdr.S; Desylva Surg Capt PLK; Hypomelanosis of Ito-Case Report;MJAFI;2006;62:68-69
- Fryburg JS, Lin KY, Matsumoto J. Abnormal head MRI in a neurologically normal boy with hypomelanosis of Ito. Am J Med Genet. Dec 11 1996; 66(2):200-3.
- Ardinger HH, Bell WE. Hypomelanosis of Ito. Wood's light and magnetic resonance imaging as diagnostic measures. Arch Neurol. Aug 1986; 43(8):848-50.
- Schmidt Heinrich, Uhrig Sabine, Lederer Gaby, Murken Jan, Speicher Michael R, Schuffenhauer Simone; Mosaicism for a dup(12)(q22q13) in a patient with hypomelanosis of Ito and asymmetry; Letters to the editor; JMed Genet 2000;37:804-807 doi:10.1136/jmg.37.10.804;
- Petra Muschke, Uwe Kölsch, Sibylle Jakubiczka, Ilse Wieland, Thomas Brune, Peter Wieacker; The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy.; Am J Med Genet A. 2007 Nov 9;143A (23):2810-2814 18041775
- Loomis Cynthia A.; Perelman Ronald O.; Disorders of Pigmentation ;Linear hypo pigmentation and hyper pigmentation, including mosaicism ;Seminars in Cutaneous Medicine and Surgery; Department of Dermatology, NYU School of Medicine, New York, NY USA; Volume 16, Issue 1, March 1997, Pages 44-53;
- Pascual-Castroviejo I, Roche C,Martinez-Bermejo A, et al; Hypomelanosis of Ito, a study of 76 infantile cases, Brain dev,1998;20;36-43
- Panayiotopoulos CP, Tahan R, Obeid T. Juvenile Myoclonic epilepsy: factors of error involved in the diagnosis and treatment. Epilepsia. Sep-Oct 1991;32(5):672-6
- Janz D. Juvenile Myoclonic epilepsy. Epilepsy with impulsive petit mal. Cleve Clin J Med. 1989;56 Suppl Pt 1:S23-33; discussion S40-2
- Grant H. Burch, Yan Gong, Wenhui Liu, Robert W. Dettman, Cynthia J. Curry, Lynne Smith, Walter L. Miller ; James Bristow; Tenascin−X deficiency is associated with Ehlers−Danlos syndrome,; Nature Genetics 17, 104-108 (1997) doi:10.1038/ng0997-104
- Y M Smulders, B H J Eussen, S Verhoef, C H Wouters; Large deletion causing the TSC2-PKD1 contiguous gene syndrome without infantile polycystic disease; J Med Genet 2003;40:e17 doi:10.1136/jmg.40.2.e17
- K.Muhammed; Jenny Matthew;Coexistence of two neurocutaineous Syndromes; Tuberous Sclerosis and Hypomelanosis of Ito;www.bioline.org