title: Four new cases of PHACES syndrome: variable phenotypic expression and endocrine features.
abstract: OBJECTIVE
  PHACES syndrome is a neurocutaneous condition characterized by the coexistence of large facial haemangiomas and at least one feature among posterior fossa malformations, cardiac and arterial anomalies, eye defects and sternal clefting. We review and discuss the phenotypes and the endocrine aspects of PHACES syndrome, hypothesizing that endocrine anomalies, although rare, could be considered as feature of the disease.
  
  
  METHODS
  We described four new cases representative of the wide variable phenotype of this syndrome, commenting on the possible phenotypic expression.
  
  
  RESULTS
  Two children displayed endocrine anomalies, sporadically described among PHACES subjects. One of them developed a transient hyperthyreotropinemia induced by interferon alpha-2alpha treatment for a giant facial haemangioma, while the second presented with congenital hypothyroidism with an in situ thyroid gland, a trait previously unreported in the syndrome.
  
  
  CONCLUSIONS
  PHACES syndrome has a wide variable phenotypic expression and endocrine anomalies, especially hypothyroidism, may represent a trait of the syndrome and should be always investigated.
authors.affiliation: Department of Paediatrics, Division of Paediatric Endocrinology, University of Torino, Italy. mussa_alessandro@yahoo.it
authors.forename: Alessandro
authors.initials: A
authors.lastname: Mussa
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Baldassarre
authors.forename: Lucia
authors.initials: L
authors.lastname: Rosaia De Santis
authors.forename: Roberto
authors.initials: R
authors.lastname: Gastaldi
authors.forename: Andrea
authors.initials: A
authors.lastname: Corrias
authors.forename: Margherita Cirillo
authors.initials: MC
authors.lastname: Silengo
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D001017:Aortic Coarctation / Q000235:genetics; D003409:Congenital Hypothyroidism / Q000097:blood / Q000188:drug therapy / Q000235:genetics*; D003388:Cranial Fossa, Posterior / Q000002:abnormalities; D005124:Eye Abnormalities / Q000235:genetics; D005153:Facial Neoplasms / Q000188:drug therapy / Q000235:genetics*; D005260:Female; D006391:Hemangioma / Q000188:drug therapy / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D000077190:Interferon alpha-2; D016898:Interferon-alpha / Q000627:therapeutic use; D008297:Male; D020752:Neurocutaneous Syndromes / Q000235:genetics*; D010641:Phenotype; D011994:Recombinant Proteins; D013249:Sternum / Q000002:abnormalities; D013577:Syndrome; D013954:Thyroglobulin / Q000627:therapeutic use; D013960:Thyroid Function Tests; D013972:Thyrotropin / Q000097:blood; D014284:Triiodothyronine / Q000097:blood
chemical_list: D000077190:Interferon alpha-2; D016898:Interferon-alpha; D011994:Recombinant Proteins; D014284:Triiodothyronine; D013972:Thyrotropin; D013954:Thyroglobulin