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Small facial haemangioma and supraumbilical raphe—a forme fruste of PHACES syndrome?
Author(s) -
Chan YC.,
Eichenfield L.F.,
Malchiodi J.,
Friedlander S.F.
Publication year - 2005
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/j.1365-2133.2005.06886.x
Subject(s) - medicine , craniofacial , surgery , presentation (obstetrics) , magnetic resonance imaging , angioma , goldenhar syndrome , head and neck , radiology , vascular disease , psychiatry
Summary We report two female infants with congenital midline supraumbilical raphes who subsequently developed haemangiomas on the lower lip and gingiva within the first 2 months of life. One was found to have a subglottic haemangioma during laryngoscopy. The infants were otherwise well and had normal chest X‐ray, echocardiogram, cranial ultrasound, magnetic resonance imaging/angiography (head, neck, chest) and ophthalmological examination. Both received oral prednisolone 1–2 mg kg −1 daily and four sessions of flashlamp pulsed‐dye laser therapy to the lip lesions, with significant improvement. The initial presentation of these two infants with supraumbilical raphes, who were otherwise healthy and without other cutaneous stigmata, suggested the diagnosis of isolated congenital sternal malformation. However, lower lip and gingival haemangiomas developed 4–6 weeks later, consistent with the diagnosis of PHACES syndrome. Children with sternal malformation and haemangioma may also have intracranial and/or cardiovascular anomalies. All previously reported patients were females who had either craniofacial and/or multiple haemangiomas. We propose guidelines for the evaluation and management of a neonate presenting with a sternal fusion defect at birth.