Four new cases of PHACES syndrome: variable phenotypic expression and endocrine features.
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.
Mussa
Alessandro
A
Department of Paediatrics, Division of Paediatric Endocrinology, University of Torino, Italy. mussa_alessandro@yahoo.it
Baldassarre
Giuseppina
G
Rosaia De Santis
Lucia
L
Gastaldi
Roberto
R
Corrias
Andrea
A
Silengo
Margherita Cirillo
MC
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
D000077190:Interferon alpha-2; D016898:Interferon-alpha; D011994:Recombinant Proteins; D014284:Triiodothyronine; D013972:Thyrotropin; D013954:Thyroglobulin