scholarly journals Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE Syndrome

2019 ◽  
Vol 2019 ◽  
pp. 1-8
Author(s):  
T. M. Morgan ◽  
J. M. Colazo ◽  
L. Duncan ◽  
R. Hamid ◽  
K. M. Joos
Keyword(s):  
Genetic Testing ◽  
Posterior Fossa ◽  
Case Reports ◽  
Infantile Hemangioma ◽  
Cardiac Defects ◽  
Case Presentation ◽  
Female Patients ◽  
Phace Syndrome ◽  
Diagnostic Criterion ◽  
Arterial Anomalies

Background. Oculofaciocardiodental (OFCD) syndrome is due to mutations in BCOR (BCL-6 corepressor). OFCD has phenotypic overlaps with PHACE syndrome (Posterior fossa anomalies, Hemangioma, Arterial anomalies, Cardiac defects, Eye anomalies). Infantile hemangiomas are a key diagnostic criterion for PHACE, but not for OFCD. A previous study reported two cases of infantile hemangiomas in OFCD, but the authors could not exclude chance association. Case Presentation. We describe two novel cases of female patients (one initially diagnosed with PHACE syndrome), both of whom had infantile hemangiomas. Ophthalmological findings were consistent with oculofaciocardiodental (OFCD) syndrome. Upon genetic testing, these two females were determined to have X-linked BCOR mutations confirming OFCD syndrome diagnoses. Conclusion. These case reports add support to the hypothesis that infantile hemangiomas may be a feature of OFCD. BCOR may potentially be within a pathway of genes involved in PHACE syndrome and/or in infantile hemangioma formation.

scholarly journals PHACE Syndrome: Persistent Fetal Vascular Anomalies

2005 ◽  
Vol 11 (4) ◽  
pp. 355-361 ◽  
Author(s):  
V. Prochazka ◽  
T. Hrbac ◽  
J. Chmelova ◽  
D. Skoloudik ◽  
M. Prochazka
Keyword(s):  
Posterior Fossa ◽  
Posterior Cranial Fossa ◽  
Vascular Anomalies ◽  
Cardiac Defects ◽  
Phace Syndrome ◽  
Cranial Fossa ◽  
Arterial Anomalies

PHACE(S) syndrome is an acronym for neurocutaneous disease encompassing the expression of (P) posterior cranial fossa malformations, (H) facial haemangiomas, (A) arterial anomalies, (C) aortic coarctaion and other cardiac defects, (E) eye abnormalities and (S) for sternal malformation or stenotic arterial diseases. We report on a case of PHACE syndrome complete expression with persistent fetal vascular anomalies unusually in a 55-year-old women with large bilateral facial and neck haemangioma and posterior fossa circulation insufficiency.

Endocrine manifestations of PHACE syndrome

2019 ◽  
Vol 32 (8) ◽  
pp. 797-802 ◽  
Author(s):  
Chansuda Bongsebandhu-phubhakdi ◽  
Therdpong Tempark ◽  
Vichit Supornsilpchai
Keyword(s):  
Posterior Fossa ◽  
Ectopic Thyroid ◽  
Cardiac Defects ◽  
Thyroid Dysgenesis ◽  
Presenting Symptoms ◽  
Phace Syndrome ◽  
Pituitary Dysfunction ◽  
Hormonal Treatments ◽  
Arterial Anomalies

Abstract PHACE syndrome is an uncommon disorder of posterior fossa anomalies, cervicofacial infantile hemangiomas, arterial anomalies, cardiac defects, eye anomalies, and midline/ventral defects. Endocrine abnormalities including hypopituitarism and ectopic thyroid were rarely described. In this article we review occurrence, onset, presenting symptoms, hormonal treatments and outcomes of all endocrine abnormalities in PHACE syndrome. Eleven of 20 (55%) had hypothalamic-pituitary dysfunction and 10 of 20 (50%) had thyroid dysgenesis. A thorough understanding of the endocrine manifestations is important for clinicians to early identify endocrine involvement in PHACE and develop plans for monitoring and treatment of its complications.

PHACES: a neurocutaneous syndrome with anomalies of the aorta and supraaortic vessels

2004 ◽  
Vol 14 (2) ◽  
pp. 206-209 ◽  
Author(s):  
Gerald Wendelin ◽  
Erwin Kitzmüller ◽  
Ulrike Salzer-Muhar
Keyword(s):  
Aortic Arch ◽  
Posterior Fossa ◽  
Coarctation Of The Aorta ◽  
Cardiac Defects ◽  
Vascular Abnormalities ◽  
Great Vessels ◽  
Neurocutaneous Syndrome ◽  
The Brain ◽  
Supraaortic Vessels ◽  
Arterial Anomalies

The acronym PHACES summarizes the most important manifestations of a rare neurocutaneous syndrome. Specifically, “P” accounts for malformation of the brain in the region of the posterior fossa, “H” stands for haemangiomas, “A” is for arterial anomalies, and “C” is for coarctation of the aorta along with cardiac defects, “E” is for abnormalities of the eye, and “S” for clefting of the sternum, and/or a supraumbilical abdominal raphe. Our objective is to introduce the syndrome to paediatric cardiologists. Our patient has stenosis of the aortic arch, multiple malformations of the great vessels arising from the aortic arch, intracranial vascular abnormalities, a sternal malformation with a supraumbilical raphe, and facial haemangiomas. We stress that it is important always to consider the existence of this syndrome in all patients with facial haemangiomas.

A case of PHACE syndrome with growth hormone deficiency and abnormal thyroid functions

2019 ◽  
Vol 32 (11) ◽  
pp. 1283-1286 ◽  
Author(s):  
Chansuda Bongsebandhu-phubhakdi ◽  
Therdpong Tempark ◽  
Ketsuda Jakchairoongruang ◽  
Vichit Supornsilpchai
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Growth Parameters ◽  
Thyroid Function Test ◽  
Hormone Deficiency ◽  
Case Presentation ◽  
Phace Syndrome ◽  
Neurocutaneous Disorder ◽  
Function Test ◽  
Arterial Anomalies

Abstract Background PHACE syndrome is a rare vascular neurocutaneous disorder characterized by posterior fossa anomalies, hemangioma, arterial anomalies, cardiac anomalies and eye anomalies. Growth hormone deficiency (GHD) has been infrequently described. Case presentation We report a girl with PHACE syndrome. Endocrine abnormalities including abnormal thyroid functions and GHD have recently been described in similar cases. Conclusions This case suggests the necessity to screen pituitary functions in all patients with PHACE syndrome with abnormal hypothalamus and pituitary (HP) anatomy. Likewise, growth parameters and thyroid function test (TFT) should be monitored in all patients with PHACE syndrome at regular intervals.

scholarly journals Hereditary pheochromocytoma/paraganglioma syndrome with a novel mutation in the succinate dehydrogenase subunit B gene in a Japanese family: two case reports

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Rei Hirose ◽  
Yuya Tsurutani ◽  
Chiho Sugisawa ◽  
Kosuke Inoue ◽  
Sachiko Suematsu ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Succinate Dehydrogenase ◽  
Novel Mutation ◽  
Case Reports ◽  
Site Mutation ◽  
Japanese Family ◽  
Paraganglioma Syndrome ◽  
Succinate Dehydrogenase Subunit B ◽  
Hereditary Pheochromocytoma ◽  
Subunit B

Abstract Background Pheochromocytoma and paraganglioma caused by succinate dehydrogenase gene mutations is called hereditary pheochromocytoma/paraganglioma syndrome. In particular, succinate dehydrogenase subunit B mutations are important because they are strongly associated with the malignant behavior of pheochromocytoma and paraganglioma . This is a case report of a family of hereditary pheochromocytoma/paraganglioma syndrome carrying a novel mutation in succinate dehydrogenase subunit B. Case presentation A 19-year-old Japanese woman, whose father died of metastatic paraganglioma, was diagnosed with abdominal paraganglioma, and underwent total resection. Succinate dehydrogenase subunit B genetic testing detected a splice-site mutation, c.424-2delA, in her germline and paraganglioma tissue. Afterwards, the same succinate dehydrogenase subunit B mutation was detected in her father’s paraganglioma tissues. In silico analysis predicted the mutation as “disease causing.” She is under close follow-up, and no recurrence or metastasis has been observed for 4 years since surgery. Conclusions We detected a novel succinate dehydrogenase subunit B mutation, c.424-2delA, in a Japanese family afflicted with hereditary pheochromocytoma/paraganglioma syndrome and found the mutation to be responsible for hereditary pheochromocytoma/paraganglioma syndrome. This case emphasizes the importance of performing genetic testing for patients with pheochromocytoma and paraganglioma suspected of harboring the succinate dehydrogenase subunit B mutation (that is, metastatic, extra-adrenal, multiple, early onset, and family history of pheochromocytoma and paraganglioma) and offer surveillance screening to mutation carriers.

Sign in / Sign up

Export Citation Format

Share Document