Congenital cutis laxa and lysyl oxidase deficiency.
We report two phenotypically similar patients with primary cutis laxa associated with deficiency of lysyl oxidase, an extracellular copper enzyme the gene for which is located on chromosome 5. Previous reports of this condition have had characteristic occipital projections, abnormality of copper metabolism and X-linked inheritance. The two reported patients have no occipital projections, normal copper metabolism, Wormian bones, and a pattern of inheritance consistent with the autosomal recessive inheritance of the lysyl oxidase gene.
Khakoo
A
A
Department of Paediatrics, Northwick Park Hospital, Middlesex, UK.
Thomas
R
R
Trompeter
R
R
Duffy
P
P
Price
R
R
Pope
F M
FM
D002648:Child; D002675:Child, Preschool; D003300:Copper / Q000097:blood; D003483:Cutis Laxa / Q000151:congenital* / Q000235:genetics*; D004423:Ear / Q000002:abnormalities; D005260:Female; D006554:Hernia, Umbilical / Q000628:therapy; D006801:Humans; D007223:Infant; D007593:Joint Instability / Q000235:genetics; D008297:Male; D011247:Pregnancy; D008249:Protein-Lysine 6-Oxidase / Q000172:deficiency* / Q000235:genetics; D011859:Radiography; D012867:Skin / Q000473:pathology; D012886:Skull / Q000000981:diagnostic imaging; D014570:Urologic Diseases / Q000235:genetics
D003300:Copper; D008249:Protein-Lysine 6-Oxidase