We report on a boy with short stature, mental retardation, seizures, follicular 
ichthyosis, generalized alopecia, hypohydrosis, enamel dysplasia, photophobia, 
congenital aganglionic megacolon, inguinal hernia, vertebral, renal and other 
anomalies, and a normal chromosome constitution. The clinical findings include 
all the features that dermotrichic and ichthyosis 
follicularis-alopecia-photophobia (IFAP) syndrome have in common and in addition 
those that characterize IFAP syndrome (photophobia, recurrent respiratory 
infections, etc.), those that are present only in dermotrichic syndrome (nail 
anomalies, hypohydrosis, megacolon, vertebral defects, etc.) and additional ones 
(enamel dysplasia, renal anomalies, inguinal hernia, etc.). Two maternal uncles 
were referred as being affected by alopecia and ichthyosis suggesting X-linked 
recessive transmission. Various hypotheses concerning the relationship between 
the 2 syndromes and the present case are discussed.