J Med Genet 2001;38:127-128
( February )
Letters to the editor
Keratosis pilaris/ulerythema
ophryogenes and 18p deletion: is it possible that the
LAMA1 gene is
involved?
| The first 150 words of the full text of this article appear below. |
EDITOR
In 1994, we reported a 13 year old patient
with 18p deletion and ulerythema ophryogenes and keratosis
pilaris.1 We then suggested that this observation may be
helpful in future attempts to localise the gene defect responsible for
follicular genokeratoses, even though similar skin lesions have been
reported in a number of patients with various chromosomal disorders,
including sex chromosome aneuploidies. Remarkably, in addition to the
report by Horsley et al,2 two
further observations of this association were recently
reported.3 4 This confirmed the presence of a true
association and prompted a further look into the material that we
obtained from the biopsy of our patient,1 searching for
possible genes localised in the deletion area that may have a role in
the pathogenesis of keratosis pilaris or ulerythema ophryogenes.
Indeed, the human laminin
1 chain is encoded by an approximately 9.5 kb mRNA transcribed from the LAMA1 gene,
which is located on . . . [Full text of this article]