Late-onset localized junctional epidermolysis bullosa and mental retardation: a distinct autosomal recessive syndrome.
We present 2 sibs with a local junctional type of epidermolysis bullosa associated with enamel defect of the teeth, dystrophic nails of the feet, and mental retardation. Subluxation of the lenses was evident in 1 of them. This combination found in a brother and a sister seems to represent a distinct autosomal recessive type of epidermolysis bullosa.
Nakar
S
S
Department of Family Medicine, Beilinson Medical Center, Petah Tiqva, Israel.
Ingber
A
A
Kremer
I
I
Hodak
E
E
Garty
B Z
BZ
Ben-David
E
E
David
M
M
Shohat
M
M
D000293:Adolescent; D000328:Adult; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics* / Q000473:pathology; D016109:Epidermolysis Bullosa, Junctional / Q000235:genetics* / Q000473:pathology; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D007906:Lens Subluxation / Q000235:genetics; D008297:Male; D010641:Phenotype; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics