A patient with extensive blue rubber bleb nevi associated with multiple congenital anomalies: an overlap or a new syndrome?
We report a case of a 13 year old boy with non-familial, multiple blue rubber bleb nevi (BRBN). He also had additional dysmorphic anomalies including a low hairline, low set ears, narrow nares, ptosis, hypotelorism, a high arched palate and downward slanting of the outer canthi. Skeletal deformities included a short, slightly webbed neck, kyphosis, cubitus valgus, non-traumatic luxation of the head of the right radius and a short left little and index fingers. He had no evidence of gastrointestinal lesions or bleeding, congenital heart or renal disease or enchondromata. The boy was mentally slow compared to his peers. He had normal chromosomes. The absence of gastrointestinal bleeding or iron deficiency anaemia is inconsistent with Bean's syndrome and the lack of enchondromata in this patient militates against the diagnosis of classical Maffucci syndrome. Some of his physical features are obviously similar to those observed in a Noonan's syndrome yet the presence of extensive BRBN would be an extremely unusual finding. Since the overall picture does not fit into any of the classical categories mentioned above, the constellation of his features has yet to find a specific syndrome. It may, however, represent an overlap between them or, possibly, a new syndrome.
Al Attia
Haider M
HM
Adams
Bruce K
BK
D000015:Abnormalities, Multiple / Q000473:pathology*; D000293:Adolescent; D006391:Hemangioma / Q000473:pathology*; D006801:Humans; D008297:Male; D009508:Nevus, Pigmented / Q000150:complications* / Q000473:pathology*; D013577:Syndrome