PHACES syndrome with small, late-onset hemangiomas

Abstract

Although hemangiomas are the hallmark of the PHACES syndrome, they may be nonexistent at birth and may not develop until later in early infancy. We report an infant who presented initially with cardiac defect, sternal nonunion, supraumbilical raphé, and congenital hypothyroidism without any hemangioma, and who subsequently developed facial hemangiomas at 2 months of age. We noted that there is a possibility that hemangiomas may subsequently develop later in early infancy and congenital hypothyroidism may be associated with the PHACES syndrome.

Diagnosis and management of hemangiomas and vascular malformations of the head and neck

“…Frequently occurring as a solitary lesion in the head and neck, hemangiomas are considered the most common tumor encountered in infancy. In particular, they are the predominant tumor of the parotid gland and orbit in children (Torer et al , 2007).…”

Non‐random maternal X‐chromosome inactivation associated with PHACES

“…We previously suggested an X-linked dominant singlegene etiology, with lethality in males, for the combination of sternal cleft with supraumbilical raphe and hemangiomas (6). This was based on the marked female predilection noted for this spectrum of malformations (7)(8)(9)(10)(11), a phenomenon confirmed in a subsequent series of case reports (12)(13)(14)(15)(16)(17)(18)(19).…”

Congenital Hypothyroidism, Cerebellar Atrophy, and the Incomplete Phenotypic Expression of PHACES Syndrome

“…We recently observed a girl presenting with congenital hypothyroidism with an in situ thyroid gland, ventricular septal defect, optic atrophy and no brain anomalies; the clue to the diagnosis was the presence of small and sparse facial haemangiomas. Even if in PHACES syndrome facial haemangiomas are usually large congenital lesion with aggressive growth and invasion of tissues, small facial haemangiomas with no tendency to grow were reported too, as well as cases in which they appear later in infancy [3,5]. One of the cases of lateonset haemangiomas occurred actually in one of the infants suffering also from congenital hypothyroidism [3].We hypothesize, hence, that partial forms without haemangiomas may exist too at the extremity of the malformative spectrum.…”

“…Hypothyroidism is an extremely rare manifestation in this condition (9 cases described currently to the best of our knowledge) and was previously reported as the result of thyroid disgenesis or TSH deficiency related to major central nervous system anomalies [3,4]. Four out of 5 cases of primary congenital hypothyroidism studied by brain MRI in PHACES syndrome presented cerebellar anomalies.…”