Genitoperineal papular acantholytic dyskeratosis is allelic to Hailey-Hailey disease

British Journal of Dermatology

Volumn 167, Issue 1, 2012, Pages 210-212

  Pernet, C ^a,b   Bessis, D ^a,b,c   Savignac, M ^d   Tron, E ^e   Guillot, B ^a,b,c   Hovnanian, Alain ^d,e,f  

^a HÔPITAL SAINT ELOI   (France)

^b UNIV MONTPELLIER   (France)

^c UMR 1058 University of Montpellier   (France)

^d INSERM   (France)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

^f UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

RNA; TACROLIMUS;

ACANTHOLYTIC DYSKERATOSIS; ADULT; BURNING SENSATION; CASE REPORT; DISEASE DURATION; EXON; FEMALE; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; GENETIC SCREENING; GENITOPERINEAL PAPULAR ACANTHOLYTIC DYSKERATOSIS; GOLGI COMPLEX; HAILEY HAILEY DISEASE; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN CELL CULTURE; HUMAN TISSUE; HYPERKERATOSIS; KERATINOCYTE; LETTER; MOLECULAR CLONING; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PRURITUS; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA EXTRACTION; SKIN BIOPSY; TREATMENT DURATION;

ACANTHOLYSIS; ADULT; AGED; CALCIUM-TRANSPORTING ATPASES; FEMALE; GENITAL DISEASES, FEMALE; HETEROZYGOTE; HUMANS; MUTATION; PEMPHIGUS, BENIGN FAMILIAL; PERINEUM;

EID: 84863305524     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2012.10810.x     Document Type: Letter

References (10)

1. Chorzelski TP, Kudejko J, Jablonska S. Is papular acantholytic dyskeratosis of the vulva a new entity? Am J Dermatopathol 1984; 6:557-60. (Pubitemid 15198797)
2. Ackerman AB. Focal acantholytic dyskeratosis. Arch Dermatol 1972; 106:702-6.
3. Nalla VK, Rogan PK. Automated splicing mutation analysis by information theory. Hum Mutat 2005; 25:334-42. (Pubitemid 40524660)
4. Desmet FO, Hamroun D, Lalande M et al. Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res 2009; 37:e67.
5. Cartegni L, Wang J, Zhu Z et al. ESEfinder: a web resource to identify exonic splicing enhancers. Nucleic Acids Res 2003; 31:3568-71. (Pubitemid 37442199)
6. Coppola G, Muscardin LM, Piazza P. Papular acantholytic dyskeratosis. Am J Dermatopathol 1986; 8:364-5.
7. Bell HK, Farrar CW, Curley RK. Papular acantholytic dyskeratosis of the vulva. Clin Exp Dermatol 2001; 26:386-8. (Pubitemid 32863088)
8. Lipoff JB, Mudgil AV, Young S et al. Acantholytic dermatosis of the crural folds with ATP2C1 mutation is a possible variant of Hailey-Hailey Disease. J Cutan Med Surg 2009; 13:151-4.
9. Hu Z, Bonifas JM, Beech J et al. Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. Nat Genet 2000; 24:61-5. (Pubitemid 30041422)
10. Hamada T, Fukuda S, Sakaguchi S et al. Molecular and clinical characterization in Japanese and Korean patients with Hailey-Hailey disease: six new mutations in the ATP2C1 gene. J Dermatol Sci 2008; 51:31-6.