Bathing-suit ichthyosis. A peculiar phenotype of lamellar ichthyosis in South African blacks

European Journal of Dermatology

Volumn 15, Issue 6, 2005, Pages 433-436

  Jacyk, Witold K ^a  

^a UNIVERSITY OF PRETORIA   (South Africa)

Author keywords

Autosomal recessive congenital ichthyosis; Bathing suit ichthyosis; Lamellar ichthyosis

Indexed keywords

ADOLESCENT; ADULT; ARM; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BATHING SUIT ICHTHYOSIS; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; FACE; HUMAN; HUMAN TISSUE; INFANT; LAMELLAR ICHTHYOSIS; LIMB; MALE; NECK; PHENOTYPE; SCALP; SKIN DEFECT; TRUNK;

ADOLESCENT; ADULT; AFRICAN CONTINENTAL ANCESTRY GROUP; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; ICHTHYOSIS, LAMELLAR; INFANT; INFANT, NEWBORN; MALE; PHENOTYPE; SOUTH AFRICA;

EID: 28244466873     PISSN: 11671122     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

1. Huber M, Rettler I, Bernasconi K, Frenk E, Lavrijsen SP, Ponec M, Bon A, Lautenschlager S, Schorderet DF, Hohl D. Mutations of keratinocyte transglutaminase in lamellar ichthyosis. Science l995; 267: 525-8.
2. Russell LJ, DiGiovanna JJ, Rogers GR, Steinert PM, Hashem N, Compton JG, et al. Mutations in gene for transglutaminase 1 in autosomal lamellar ichthyosis. Nature Genet 1995; 9: 279-83.
3. Jobard F, Lefevre C, Karaduman A, Blanchet-Bardon C, Emre S, Weissenbach J, et al. Lipoxygenase-3 (ALOXE-3) and 12 (R)-Lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCLE). Linked to chromosome 17p13.1. Hum Mol Genet 2002; 11: 107-13.
4. Lefevre C, Audebert S, Jobard F, Boudjar B, Lakhdar H, Boughdene-Stambouli O, Blanchet-Bardon C, Heilig R, Foglio M, Weissenbach J, Lathrop M, Prud'homme JF, Fischer J. Mutations in the transported ABCA 12 are associated with lamellar ichthyosis type 2. Hum Mol Genet 2003; 12: 2369-78.
5. Scott F. Skin Diseases in the South African Bantu. In: Marshall J, ed. Essays on Tropical Dermatology, Vol 2. Amsterdam: Excerpta Medica, 1972: 1-17.
6. Traupe H. In: The ichthyosis, a guide to clinical diagnosis, genetic counseling and therapy. Berlin: Springer, 1989: 121-34.
7. Anton-Lamprecht I. The Skin. In: Papadimitriou JM, Henderson DW, Spagnolo DV, eds. Diagnostic Ultrastructure of Non-neoplastic Diseases. Churchill Livingstone, 1992: 460-8.
8. Laiho E, Niemi KM, Ignatius J, Kere J, Palotie A, Saarialho Kere U. Clinical and morphological correlation's for transglutaminase 1 gene mutations in autosomal recessive congenital ichthyosis. Eur J Hum Genet 1999; 7: 625-32.
9. Huber M, Rettler I, Bernasconi K, Wyss M, Hohl D. Lamellar ichthyosis is genetically heterogenous-cases with normal keratinocyte transglutaminase. J Invest Dermatol 1995; 105: 653-4.
10. Cserhalmi-Friedman PB, Milstone LM, Christiano AM. Diagnosis of autosomal lamellar ichthyosis with mutations in TGM1 gene. Br J Dermatol 2001; 144: 726-30.
11. Akiyama M, Sawamura D, Shimizu H. The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis. Clin Exp Dermatol 2003; 28: 235-40.
12. Akiyama M, Takizawa Y, Suzuki Y, Ishiko A, Mutsuo I, Shimizu H. Compound heterozygous TGM1 mutations including a novel missense mutation L2040 in a mild form of lamellar ichthyosis. J Invest Dermatol 2001; 116: 992-5.
13. Muramatsu S, Suga Y, Kon J, Matsuba S, Hashimoto Y, Ogawa H. A Japanese patient with a mild form of lamellar ichthyosis harboring two missense mutations in a core domain of the transglutaminase 1 gene. Br J Dermatol 2004; 150: 390-2.
14. Raghunath M, Hennies HC, Ahvazi B, Vogel M, Reis A, Steinert PM, Troupe H. Self- healing collodion baby: a dynamic phenotype explained by a particular transglutaminase-1 mutation. J Invest Dermatol 2003; 120: 224-8.