Τίτλος:
Ichthyosis follicularis with alopecia and photophobia in a girl with
cataract: Histological and electron microscopy findings
Γλώσσες Τεκμηρίου:
Αγγλικά
Περίληψη:
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.
Συγγραφείς:
Tsolia, MN
Aroni, K
Konstantopoulou, L
Karpathios, T and
Tsoukatou, T
Paraskevakou, H
Stavrinadis, C
Fretzayas, A
Περιοδικό:
Acta Dermato-Venereologica
Εκδότης:
Acta Dermato-Venereologica
DOI:
10.1080/00015550410022230
