X-linked ichthyosis along with recessive dystrophic epidermolysis bullosa in the same patient.
X-linked ichthyosis (XLI) is a relatively common keratinization disorder which is caused, in the vast majority of cases, by a total deletion of the sulfatase steroid (STS) gene. Dystrophic epidermolysis bullosa (DEB) is a scarring form of epidermolysis bullosa of either autosomal recessive or dominant inheritance secondary to collagen VII gene mutations. We report the first case of a patient with both XLI and DEB in whom a partial deletion of the STS gene and a recessive point mutation in COL7A1 were demonstrated.
Hernández-Martín
A
A
Department of Dermatology, Hospital Niño Jesús, Madrid, Spain. ahernandez_hnj@yahoo.es
Cuadrado-Corrales
N
N
Ciria-Abad
S
S
Arias-Palomo
D
D
Mascaró-Galy
J M
JM
Escámez
M J
MJ
García
M
M
Del Río
M
M
Torrelo
A
A
González-Sarmiento
R
R
D002648:Child; D024143:Collagen Type VII / Q000235:genetics*; D015897:Comorbidity; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D006801:Humans; D016114:Ichthyosis, X-Linked / Q000235:genetics*; D008297:Male; D017354:Point Mutation; D017384:Sequence Deletion; D043266:Steryl-Sulfatase / Q000235:genetics*
D024143:Collagen Type VII; D043266:Steryl-Sulfatase