TY - JOUR
TI - Ichthyosis follicularis with alopecia and photophobia in a girl with
cataract: Histological and electron microscopy findings
AU - Tsolia, MN
AU - Aroni, K
AU - Konstantopoulou, L
AU - Karpathios, T and
AU - Tsoukatou, T
AU - Paraskevakou, H
AU - Stavrinadis, C
AU - Fretzayas, A
JO - Acta Dermato-Venereologica
PY - 2005
VL - 85
TODO - 1
SP - 51-55
PB - Acta Dermato-Venereologica
SN - 0001-5555, 1651-2057
TODO - 10.1080/00015550410022230
TODO - null
TODO - A rare congenital ectodermal disorder characterized by ichthyosis
follicularis, alopecia and photophobia has been designated the acronym
IFAP. An X-linked recessive mode of inheritance was initially proposed
but a few recent reports in girls suggested genetic heterogeneity of
this syndrome. We herein describe a 3-year-old girl with clinical and
histological features typical of IFAP. In addition to the already known
features of the syndrome the patient also developed bilateral cataract.
Electron microscopy examination of the skin showed partial disruption of
the intercellular bridges, spongiotic changes and decrease in the number
and size of desmosomes supporting the notion that IFAP may be a
cell-to-cell adhesion disorder.
ER -