Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother
S Dupuis-Girod, N Corradini, S Hadj-Rabia… - …, 2002 - publications.aap.org
A child with X-linked osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and
immunodeficiency (OL-EDA-ID) was recently reported. We report the clinical features of a
second boy with this novel syndrome and his mother, who presented with signs of
incontinentia pigmenti (IP). The child had mild osteopetrosis without neurosensory
complications, unilateral lymphedema of the left leg, and characteristic features of anhidrotic
ectodermal dysplasia with sparse hair, facial dysmorphy, delayed eruption of teeth, and …
immunodeficiency (OL-EDA-ID) was recently reported. We report the clinical features of a
second boy with this novel syndrome and his mother, who presented with signs of
incontinentia pigmenti (IP). The child had mild osteopetrosis without neurosensory
complications, unilateral lymphedema of the left leg, and characteristic features of anhidrotic
ectodermal dysplasia with sparse hair, facial dysmorphy, delayed eruption of teeth, and …