Multiple clinical manifestations and diagnostic challenges of incontinentia pigmenti - 12 years' experience in 1 medical center

Journal of the Chinese Medical Association

Volumn 71, Issue 9, 2008, Pages 455-460

  Chang, Jenn Tzong ^a   Chiu, Pao Chin ^a   Chen, Ying Yao ^a   Wang, Hsiao Ping ^a   Hsieh, Kai Sheng ^a  

^a KAOHSIUNG VETERANS GENERAL HOSPITAL   (Taiwan)

Author keywords

Bloch Sulzberger syndrome; Eosinophilia; Incontinentia pigmenti; Limb deformity; NF B

Indexed keywords

ACICLOVIR; ANTIBIOTIC AGENT; ANTIINFECTIVE AGENT; DNA;

ARTICLE; CASE REPORT; CHROMOSOME ANALYSIS; CLINICAL FEATURE; DEMOGRAPHY; EOSINOPHIL COUNT; FAMILY HISTORY; FEMALE; FOOT MALFORMATION; HISTOPATHOLOGY; HUMAN; HYPERPIGMENTATION; INCONTINENTIA PIGMENTI; MALE; MEDICAL RECORD; MOLECULAR BIOLOGY; NEWBORN; NEWBORN INFECTION; OUTCOME ASSESSMENT; PHYSICAL EXAMINATION; RETINA DETACHMENT; RETINA HEMORRHAGE; RETROSPECTIVE STUDY; SKIN BIOPSY; TAIWAN; VESICULAR RASH; VITREOUS HEMORRHAGE;

EID: 54549121353     PISSN: 17264901     EISSN: 17287731     Source Type: Journal    
DOI: 10.1016/S1726-4901(08)70148-5     Document Type: Article

References (21)

1. Monahan TP, Cohen BA, Siegfried EC. Congenital and hereditary disorders of the skin. In: Taeusch HW, Ballard RA, Gleason CA, eds. Avery's Diseases of the Newborn. Philadelphia: Elsevier Saunders, 2005:1492-3.
2. Cohen BA, Davis HW. Dermatology. In: Zitelli BJ, Davis HW, eds. Atlas of Pediatric Physical Diagnosis. St Louis: Mosby, 2002:298-300.
3. Nelson DL. NEMO, NFκB signaling and incontinentia pigmenti. Curr Opin Genet Dev 2006;16:282-8.
4. Fusco F, Bardaro T, Fimiani G, Mercadante V, Miano MG, Falco G, Israel A, et al. Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation. Hum Mol Genet 2004;13:1763-73.
5. Smahi A, Courtois G, Valabres P, Yamaoka S, Heuertz S, Munnich A, Israel A, et al. Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature 2000;405:466-72.
6. Mayer EJ, Shuttleworth GN, Greenhalgh KL, Sansom JE, Grey RH, Kenwrick S. Novel corneal features in two males with incontinentia pigmenti. Br J Ophthalmol 2003;87:554-6.
7. Bryant SA, Rutledge SL. Abnormal white matter in a neurologically intact child with incontinentia pigmenti. Pediatr Neurol 2007;36:199-201.
8. Fusco F, Fimiani G, Tadini G, D'Urso M, Ursini MV. Clinical diagnosis of incontinentia pigmenti in a cohort of male patients. J Am Acad Dermatol 2007;56:264-7.
9. Long SS, Nyquist AC. Laboratory manifestations of infectious diseases. In: Long SS, Pickering LK, Prober CG, eds. Principles and Practice of Pediatric Infectious Diseases. Philadelphia: Churchill Livingstone, 2003:1415-7.
10. Landy SJ, Donnai D. Incontinentia pigmenti (Bloch-Sulzberger syndrome). J Med Genet 1993;30:53-9.
11. Berlin AL, Pallor AS, Chan LS. Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology. J Am Acad Dermatol 2002;47:169-87.
12. Kim BJ, Shin HS, Won CH, Lee JH, Kim KH, Kim MN, Ro BI, et al. Incontinentia pigmenti: clinical observation of 40 Korean cases. J Korean Med Sci 2006;21:474-7.
13. Pacheco TR, Levy M, Collyer JC, Parra NP, Parra CA, Garay M, Aprea G, et al. Incontinentia pigmenti in male patients. J Am Acad Dermatol 2006;55:251-5.
14. Ohara K. Anticipation, imprinting, trinucleotide repeat expansions and psychoses. Prog Neuro-Psychopharmacol Biol Psychiat 2001; 25:167-92.
15. Ardelean D, Pope E. Incontinentia pigmenti in boys: a series and review of the literature. Pediatr Dermatol 2006;23:523-7.
16. Hayes IM, Varigos G, Upjohn EJ, Orchard DC, Penny DJ, Savarirayan R. Unilateral acheiria and fatal primary pulmonary hypertension in a girl with incontinentia pigmenti. Am J Med Genet A 2005;135:302-3.
17. Bushdid PB, Brantley DM, Yull FE, Blaeuer GL, Hoffman LH, Niswander L, Kerr LD. Inhibition of NF-kappaB activity results in disruption of the apical ectodermal ridge and aberrant limb morphogenesis. Nature 1998;392:615-8.
18. Tickle C. Worlds in common through NF-kappaB. Nature 1998;392:547-9.
19. Takeda K, Takeuchi O, Tsujimura T, Itami S, Adachi O, Kawai T, Sanjo H, et al. Limb and skin abnormalities in mice lacking IKKalpha. Science 1999;284:313-6.
20. Hu Y, Baud V, Delhase, Zhang P, Deerinck T, Ellisman M, Johnson R, et al. Abnormal morphogenesis but intact IKK activation in mice lacking the IKKalpha subunit of IkappaB kinase. Science 1999;284:316-20.
21. Sil AK, Maeda S, Sano Y, Roop DR, Karin M. IκB kinase-α acts in the epidermis to control skeletal and craniofacial morphogenesis. Nature 2004;428:660-4.