The confusing nosology of incontinentia pigmenti [24]

Clinical and Experimental Dermatology

Volumn 31, Issue 3, 2006, Pages 482-

  Sloan, S B ^a  

^a Lackland AFB ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

I KAPPA B KINASE GAMMA;

ALBERS SCHOENBERG DISEASE; ALOPECIA; ANHIDROSIS; ANHIDROTIC ECTODERMAL DYSPLASIA; CLINICAL FEATURE; DISEASE CLASSIFICATION; DISEASE SEVERITY; GENE MUTATION; HUMAN; IMMUNE DEFICIENCY; INCONTINENTIA PIGMENTI; LETTER; LYMPHEDEMA; MOLECULAR GENETICS; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SKIN DEFECT; X CHROMOSOME LINKED DISORDER;

HUMANS; INCONTINENTIA PIGMENTI; TERMINOLOGY;

EID: 33645337092     PISSN: 03076938     EISSN: 13652230     Source Type: Journal    
DOI: 10.1111/j.1365-2230.2006.02119.x     Document Type: Letter

References (5)

1. Phan TA Wargon O Turner AM. Incontinentia pigmenti case series: clinical spectrum of incontinentia pigmenti in 53 female patients and their relatives. Clin Exp Dermatol 2005 30 474 80.
2. Hadj-Rabia S Froidevaux D Bodak N et al. Clinical study of 40 cases of incontinentia pigmenti. Arch Dermatol 2003 139 1163 70.
3. Smahi A Courtois G Vabres P et al. Genomic rearrangement in NEMO impairs NF-kappaβ activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature 2000 405 466 72.
4. Doffinger R Smahi A Bessia C et al. X-linked anhidrotic ectodermal dyplasia with immunodeficiency is caused by impaired NF-kappaβ signaling. Nat Genet 2001 27 277 85.
5. Sybert VP. Incontinentia pigmenti nomenclature. Am J Hum Genet 1994 55 209 11.