TY - JOUR
T1 - Early recognition of basal cell naevus syndrome
AU - Veenstra-Knol, Hermine E.
AU - Scheewe, Jan H.
AU - Van Der Vlist, Gerrit J.
AU - Van Doorn, Menno E.
AU - Ausems, Margreet G.E.M.
PY - 2005/3
Y1 - 2005/3
N2 - The basal cell naevus syndrome is an autosomal dominant syndrome characterised by major manifestations such as basal cell carcinomas, jaw cysts, palmar or plantar pits, and intracranial calcifications. Early recognition is important in order to reduce morbidity due to cutaneous and cerebral malignancy and oromaxillofacial deformation and destruction, although diagnosis in infancy is rare. We describe three unrelated children with basal cell naevus syndrome who appeared to be the first patient in each family. Conclusion: Our observations lead us to recommend looking for other manifestations of this disease in patients who present with cardiac fibroma, cleft lip/palate, polydactyly or macrocephaly. Bifid, fused or splayed ribs should be considered a major criterion of great help in establishing a diagnosis, particularly in young children.
AB - The basal cell naevus syndrome is an autosomal dominant syndrome characterised by major manifestations such as basal cell carcinomas, jaw cysts, palmar or plantar pits, and intracranial calcifications. Early recognition is important in order to reduce morbidity due to cutaneous and cerebral malignancy and oromaxillofacial deformation and destruction, although diagnosis in infancy is rare. We describe three unrelated children with basal cell naevus syndrome who appeared to be the first patient in each family. Conclusion: Our observations lead us to recommend looking for other manifestations of this disease in patients who present with cardiac fibroma, cleft lip/palate, polydactyly or macrocephaly. Bifid, fused or splayed ribs should be considered a major criterion of great help in establishing a diagnosis, particularly in young children.
KW - Bifid ribs
KW - Ectopic calcification
KW - Gorlin syndrome
KW - Macrocephaly
KW - Polydactyly
UR - http://www.scopus.com/inward/record.url?scp=17644371027&partnerID=8YFLogxK
U2 - 10.1007/s00431-004-1597-4
DO - 10.1007/s00431-004-1597-4
M3 - Article
C2 - 15717176
AN - SCOPUS:17644371027
SN - 0340-6199
VL - 164
SP - 126
EP - 130
JO - European Journal of Pediatrics
JF - European Journal of Pediatrics
IS - 3
ER -