title: Child with manifestations of dermotrichic syndrome and ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome.
abstract: 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.
authors.affiliation: Istituto di Clinica Pediatrica, Università La Sapienza, Roma, Italy.
authors.forename: F
authors.initials: F
authors.lastname: Martino
authors.forename: P
authors.initials: P
authors.lastname: D'Eufemia
authors.forename: M S
authors.initials: MS
authors.lastname: Pergola
authors.forename: R
authors.initials: R
authors.lastname: Finocchiaro
authors.forename: M
authors.initials: M
authors.lastname: Celli
authors.forename: G
authors.initials: G
authors.lastname: Giampà
authors.forename: M
authors.initials: M
authors.lastname: Frontali
authors.forename: O
authors.initials: O
authors.lastname: Giardini
mesh_terms: D000505:Alopecia / Q000235:genetics*; D002675:Child, Preschool; D004476:Ectodermal Dysplasia / Q000235:genetics* / Q000473:pathology; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D016114:Ichthyosis, X-Linked / Q000235:genetics* / Q000473:pathology; D008607:Intellectual Disability / Q000235:genetics; D008027:Light; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014960:X Chromosome