Bathing suit ichthyosis: A temperature sensitive phenotype

European Journal of Pediatric Dermatology

Volumn 18, Issue 2, 2008, Pages 75-77

  Oji, Vinzenz ^a   Ahvazi, B ^b   Hausser, I ^c   Hennies, H C ^d   Jacyk, W K ^e   Aufenvenne, K ^a   Traupe, H ^a  

^a Department of Dermatology ^*  (Germany)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c UNIVERSITY OF HEIDELBERG   (Germany)

^d UNIVERSITY OF COLOGNE   (Germany)

^e UNIVERSITY OF PRETORIA   (South Africa)

Author keywords

Bathing suit ichthyosis; Thermosensitivity; Transglutaminase 1

Indexed keywords

PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE; PROTEIN GLUTAMINE GAMMA GLUTAMYLTRANSFERASE 1;

ARTICLE; BATHING SUIT ICHTHYOSIS; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; ENZYME ACTIVITY; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; LAMELLAR ICHTHYOSIS; LIMB DISEASE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PHENOTYPIC VARIATION; SKIN TEMPERATURE; TEMPERATURE SENSITIVITY; THERMOGRAPHY;

EID: 51749088988     PISSN: 11227672     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (6)

1. Arita K., Jacyk W.K., Wessagowit V., et al. - The South African "bathing suit ichthyosis" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase-1. J. Invest. Dermatol. 127, 490-3, 2007.
2. Jacyk W.K. - Bathing-suit ichthyosis. A peculiar phenotype of lamellar ichthyosis in South African blacks. Eur. J. Dermatol. 15, 433-6, 2005.
3. Oji V., Hautier J.M., Ahvazi B., et al. - Bathing suit ichthyosis is caused by transglutaminase-1 deficiency: evidence for a temperature-sensitive phenotype. Hum. Mol. Genet. 15, 3083-97, 2006.
4. Oji V., Traupe H. - Ichthyoses: differential diagnosis and molecular genetics. Eur. J. Dermatol. 16, 349-59, 2006.
5. Raghunath M., Hennies H.C., Ahvazi B., et Al. -Self-healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutation. J. Invest. Dermatol. 120, 224-8, 2003.
6. Vahlquist A., Ganemo A., Pigg M., et al. - The clinical spectrum of congenital ichthyosis in Sweden: a review of 127 cases. Acta Derm. Venereol. Suppl. (Stockh) 213, 34-47, 2003.