Incontinentia pigmenti and hypomelanosis of Ito
Tài liệu tham khảo
Assogba, 2010, Heterogeneous seizure manifestations in Hypomelanosis of Ito: report of four new cases and review of the literature, Neurol Sci, 31, 9, 10.1007/s10072-009-0160-5
Bodack, 2003, Late recurrence of the inflammatory first stage lesions in incontinentia pigmenti: an unusual phenomenon and a fascinating pathological mechanism, Arch Dermatol, 139, 201, 10.1001/archderm.139.2.201
Bryant, 2007, Abnormal white matter in a neurologically intact child with incontinentia pigmenti, Pediatr Neurol, 36, 199, 10.1016/j.pediatrneurol.2006.11.009
Carney, 1976, Incontinentia pigmenti: a world statistical analysis, Arch Dermatol, 112, 535, 10.1001/archderm.1976.01630280059017
Chatkupt, 1993, Characteristic MR findings in a neonate with incontinentia pigmenti, AJR, 160, 372, 10.2214/ajr.160.2.8424354
Davalos, 2001, Psychosis in hypomelanosis of Ito, J R Soc Med, 94, 140, 10.1177/014107680109400314
Dereser-Dennl, 2000, Hypomelanosis Ito in translocation trisomy 9/mosaicism (46, XX/46, XX, t(9;9)(p24;p24)), Spontaneous remission in childhood. Hautarzt, 51, 688, 10.1007/s001050051197
Fraitag, 2009, Biopsy is helpful for the diagnosis of incontinentia pigmenti at late stage IV: a series of 26 cutaneous biopsies, J Cutan Pathol, 36, 966, 10.1111/j.1600-0560.2009.01206.x
García Muret, 2002, Hypomelanosis of Ito with Sturge-Weber syndrome-like leptomeningeal angiomatosis, Pediatr Dermatol, 19, 536, 10.1046/j.1525-1470.2002.00228.x
Goldberg, 1993, Retinal and other manifestations of incontinentia pigmenti (Bloch–Sulzberger syndrome), Ophthalmology, 100, 1645, 10.1016/S0161-6420(93)31422-3
Gupta, 2007, Trisomy 2 mosaicism in hypomelanosis of Ito, Am J Med Genet A, 143A, 2466, 10.1002/ajmg.a.31940
Hadj-Rabia, 2003, Clinical study of 40 cases of incontinentia pigmenti, Arch Dermatol, 139, 1163, 10.1001/archderm.139.9.1163
Hadj-Rabia, 2011, Clinical and histologic features of incontinentia pigmenti in adults with nuclear factor-κB essential modulator gene mutations, J Am Acad Dermatol, 64, 508, 10.1016/j.jaad.2010.01.045
Happle, 1998, Incontinentia pigmenti versus hypomelanosis of Ito: the whys and wherefores of a confusing issue, Am J Med Genet, 79, 64, 10.1002/(SICI)1096-8628(19980827)79:1<64::AID-AJMG14>3.0.CO;2-K
Hauw, 1977, Neuropathological study of incontinentia pigmenti, Anatomical case report. Acta Neuropathol, 38, 159, 10.1007/BF00688564
Hennel, 2003, Insights into the pathogenesis of cerebral lesions in incontinentia pigmenti, Pediatr Neurol, 29, 148, 10.1016/S0887-8994(03)00150-4
Holmstrom, 2000, Ocular manifestations of incontinentia pigmenti, Acta Ophthalmol Scand, 78, 348, 10.1034/j.1600-0420.2000.078003348.x
Inder, 2003, Defining the nature of the cerebral abnormalities in the premature infant: a qualitive magnetic resonance imaging study, J Pediatr, 143, 171, 10.1067/S0022-3476(03)00357-3
Ito, 1952, Studies of melanin: XI. Incontinentia pigmentiachromiens: a singular case of nevus depigmentosus systematicus bilateralis, Tohoku J Exp Med, 55, 55
Landy, 1993, Incontinentia pigmenti (Bloch-Sulzberger syndrome), J Med Genet, 30, 53, 10.1136/jmg.30.1.53
Leonard, 2002, Diploid/tetraploid/t(1;6) mosaicism in a 17-year-old female with hypomelanosis of Ito, multiple congenital anomalies, and body asymmetry, Am J Med Genet, 112, 86, 10.1002/ajmg.10662
Lou, 2008, Nearly completely reversible brain abnormalities in a patient with incontinentia pigmenti, AJNR Am J Neuroradiol, 29, 431, 10.3174/ajnr.A0890
Maingay-de Groof, 2008, Extensive cerebral infarction in the newborn due to incontinentia pigmenti, Eur J Paediatr Neurol, 12, 284, 10.1016/j.ejpn.2007.09.001
Makris, 2000, Female mice heterozygous for disorder incontinentia pigmenti, Mol Cell, 5, 969, 10.1016/S1097-2765(00)80262-2
Malhevy, 1998, Painful subungual tumor in incontinentia pigmenti: response to treatment with etretinante, Br J Dermatol, 138, 554, 10.1046/j.1365-2133.1998.02152.x
Migeon, 1989, Selection against lethal alleles in females heterozygous for incontinentia pigmenti, Am J Hum Genet, 44, 100
Pellegrino, 1994, Vascular occlusion associated with incontinentia pigmenti, Pediatr Neurol, 10, 73, 10.1016/0887-8994(94)90073-6
Plakantonakis, 2005, Neurosurgical management of medically intractable epilepsy associated with hypomelanosis of Ito, Epilepsia, 46, 329, 10.1111/j.0013-9580.2005.45804.x
Rafay, 2005, Hypomelanosis of Ito and Moyamoya disease, J Child Neurol, 20, 924, 10.1177/08830738050200111301
Ruggieri, 2000, Hypomelanosis of Ito: clinical syndrome or just phenotype?, J Child Neurol, 15, 635, 10.1177/088307380001501001
Rutland, 2006, Hypomelanosis of Ito associated with precocious puberty, Pediatr Neurol, 34, 51, 10.1016/j.pediatrneurol.2005.06.004
Schmidt, 2000, Mosaicism for a dup(12)(q22q13) in a patient with hypomelanosis of Ito and asymmetry, J Med Genet, 37, 804, 10.1136/jmg.37.10.804
Scott, 2008, Cortical visual impairment in hypomelanosis of Ito, J Pediatr Ophthalmol Strabismus, 45, 240, 10.3928/01913913-20080701-14
Sharma, 2009, Hypomelanosis of Ito with hemimegalencephaly, Dermatol Online J, 15, 12, 10.5070/D36324C2WW
Siemes, 1978, Encephalitis in two members of a family with incontinentia pigmenti. The possible role of inflammation in the pathogenis of CNS involvement, Eur J Pediatr, 129, 103, 10.1007/BF00442370
Smahi, 2000, Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti, Nature, 40, 466
Taibjee, 2004, Abnormal pigmentation in hypomelanosis of Ito and pigmentary mosaicism: the role of pigmentary genes, Br J Dermatol, 151, 269, 10.1111/j.1365-2133.2004.06057.x
Wolf, 2005, Diffuse cortical necrosis in a neonate with incontinentia pigmenti and an encephalitis-like presentation, ANJR Am J Neuroradiol, 26, 1580
Yoshikawa, 2000, Disappearance of a white matter lesion in incontinentia pigmenti, Pediatr Neurol, 23, 364, 10.1016/S0887-8994(00)00203-4
Zou, 2009, Developmental disability and hypomelanosis of Ito in a female with 7.3Mb de novo duplication of Xp11.3-p11.4 and random X inactivation, Am J Med Genet A, 149A, 2573, 10.1002/ajmg.a.33066
