Bathing suit ichthyosis.
Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive lamellar ichthyosis due to transglutaminase-1 (TGase-1) gene mutations leading to a temperature sensitive phenotype. It is characterized by dark-grey or brownish scaling restricted to the 'bathing suit' areas, whereas the extremities and central face are almost completely spared. We report a 2-year-old African girl with BSI with ultrastructural and biochemical demonstration of TGase-1 deficiency over the affected skin. TGase-1 gene analysis disclosed the homozygous p.R315L mutation, which may lead to a temperature sensitive dysfunction of the enzyme.
Trindade
Felicidade
F
Department of Dermatology, Hospital de Cascais, Av. Brigadeiro Victor Novais Gonçalves, 2755-009 Cascais, Portugal. felicidade.trindade@gmail.com
Fiadeiro
Teresa
T
Torrelo
Antonio
A
Hennies
Hans Christian
HC
Hausser
Ingrid
I
Traupe
Heiko
H
D044383:Black People; D005260:Female; D006720:Homozygote; D006801:Humans; D017490:Ichthyosis, Lamellar / Q000235:genetics* / Q000473:pathology; D007223:Infant; D009154:Mutation; D010641:Phenotype; D013696:Temperature; D011503:Transglutaminases / Q000172:deficiency / Q000235:genetics
D011503:Transglutaminases