Clinical heterogeneity of 1649delG mutation in the tail domain of keratin 5: a Japanese family with epidermolysis bullosa simplex with mottled pigmentation.
Twenty-five- and 22-y-old Japanese women, who are cousins, presented with distal skin fragility, widespread small, pigmented macules, and toenail deformity. Blisters occurred between the epidermis and the dermis with degeneration of the basal cells, suggesting epidermolysis bullosa simplex with mottled pigmentation (EBS-MP). Electron microscopy of the pigmented spots demonstrated vacuolization of basal cells as well as disturbed junctional structures and incontinence of pigmentation. Gene analysis resulted in detection of a heterozygous deletion of a guanine nucleotide in exon 9 at position 1649. P25L mutation was not detected in either case. It is possible that EBS-MP occurs not only based on the P25L mutation of the keratin 5 molecule, but also because of other types of mutations of epidermal keratin genes.
Department of Dermatology, Osaka Red Cross Hospital, Osaka, Japan. horiguch@fa2.so-net.ne.jp
Yuji
Y
Horiguchi
Daisuke
D
Sawamura
Ryoko
R
Mori
Hideki
H
Nakamura
Kenzo
K
Takahashi
Hiroshi
H
Shimizu
D000328:Adult; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D004252:DNA Mutational Analysis; D016110:Epidermolysis Bullosa Simplex / Q000235:genetics* / Q000473:pathology; D005260:Female; D016368:Frameshift Mutation; D020022:Genetic Predisposition to Disease; D006801:Humans; D007564:Japan; D053555:Keratin-5; D007633:Keratins / Q000235:genetics*; D008969:Molecular Sequence Data; D010375:Pedigree; D016133:Polymerase Chain Reaction; D012880:Skin Pigmentation
C503940:KRT5 protein, human; D053555:Keratin-5; D007633:Keratins