Hidrotic ectodermal dysplasia with corneal involvement.
BACKGROUND
Persons with ectodermal dysplasias classically have defects in hair, teeth, nails, and sweat glands. Other tissues derived from ectoderm may also be involved. Ocular involvement in ectodermal dysplasias primarily occurs in anhidrotic forms.


METHODS
We describe a father and son with hidrotic ectodermal dysplasia.


RESULTS
Both patients had recurrent corneal epithelial defects from birth, corneal neovascularization, and strabismus. The father had cataracts with crystalline and amorphous inclusions at an early age. Both patients also had alopecia and skin abnormalities.


CONCLUSIONS
A father and son with a previously unreported hidrotic ectodermal dysplasia and unusual corneal findings are described.
Donahue
J P
JP
Department of Ophthalmology, University of Colorado Health Sciences Center, Denver 80262, USA.
Shea
C J
CJ
Taravella
M J
MJ
D000328:Adult; D003315:Cornea / Q000473:pathology*; D003316:Corneal Diseases / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D003937:Diagnosis, Differential; D004476:Ectodermal Dysplasia / Q000150:complications* / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009679:Nuclear Family; D012720:Severity of Illness Index; D014792:Visual Acuity