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Erschienen in: European Journal of Pediatrics 3/2005

01.03.2005 | Original Paper

Early recognition of basal cell naevus syndrome

verfasst von: Hermine E. Veenstra-Knol, Jan H. Scheewe, Gerrit J. van der Vlist, Menno E. van Doorn, Margreet G. E. M. Ausems

Erschienen in: European Journal of Pediatrics | Ausgabe 3/2005

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Abstract

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.
Literatur
1.
Zurück zum Zitat Bale AE, Yu K (2001) The hedgehog pathway and basal cell carcinomas. Hum Mol Genet 10: 757–762PubMed Bale AE, Yu K (2001) The hedgehog pathway and basal cell carcinomas. Hum Mol Genet 10: 757–762PubMed
2.
Zurück zum Zitat Bitar GJ, Herman CK, Dahman M, Horad MA (2002) Basal cell nevus syndrome: guidelines for early detection. Am Fam Physician 65: 2501–2504PubMed Bitar GJ, Herman CK, Dahman M, Horad MA (2002) Basal cell nevus syndrome: guidelines for early detection. Am Fam Physician 65: 2501–2504PubMed
3.
Zurück zum Zitat Boutet N, Bignon YB, Drouin-Garraud V, Sarda P, Longy M, Lacombe D, Gorry P (2003) Spectrum of PTCH1 mutations in French patients with Gorlin syndrome. J Invest Dermatol 121: 478–481PubMed Boutet N, Bignon YB, Drouin-Garraud V, Sarda P, Longy M, Lacombe D, Gorry P (2003) Spectrum of PTCH1 mutations in French patients with Gorlin syndrome. J Invest Dermatol 121: 478–481PubMed
4.
Zurück zum Zitat Evans DGR, Ladusans EJ, Rimmer S, Burnell LD, Thakker N, Farndon PA (1993) Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. J Med Genet 30: 460–464PubMed Evans DGR, Ladusans EJ, Rimmer S, Burnell LD, Thakker N, Farndon PA (1993) Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. J Med Genet 30: 460–464PubMed
5.
Zurück zum Zitat Gorlin RJ (1987) Nevoid basal-cell carcinoma syndrome. Medicine 66: 98–113PubMed Gorlin RJ (1987) Nevoid basal-cell carcinoma syndrome. Medicine 66: 98–113PubMed
6.
Zurück zum Zitat Gorlin RJ (1995) Nevoid basal cell carcinoma syndrome. Dermatol Clinics 13: 113–125 Gorlin RJ (1995) Nevoid basal cell carcinoma syndrome. Dermatol Clinics 13: 113–125
7.
Zurück zum Zitat Hahn H, Wicking C, Zaphiropoulos PG, Gailani MR, Shanley S, Chidambaram A, Vorechovsky I, Holmberg E, Unden AB, Gillies S, Negus K, Smyth I, Pressman C, Leffell DJ, Gerrard B, Goldstein AM, Dean M, Toftgard R, Chenevix-Trench G, Wainwright B, Bale AE (1996) Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell 85: 841–851CrossRefPubMed Hahn H, Wicking C, Zaphiropoulos PG, Gailani MR, Shanley S, Chidambaram A, Vorechovsky I, Holmberg E, Unden AB, Gillies S, Negus K, Smyth I, Pressman C, Leffell DJ, Gerrard B, Goldstein AM, Dean M, Toftgard R, Chenevix-Trench G, Wainwright B, Bale AE (1996) Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell 85: 841–851CrossRefPubMed
8.
Zurück zum Zitat Johnson RL, Rothman AL, Xie J, Goodrich LV, Bare JW, Bonifas JM, Quinn AG, Myers RM, Cox DR, Epstein EH, Scott MP (1996) Human homolog of patched, a candidate gene for the basal cell nevus carcinoma syndrome. Science 272: 1668–1671PubMed Johnson RL, Rothman AL, Xie J, Goodrich LV, Bare JW, Bonifas JM, Quinn AG, Myers RM, Cox DR, Epstein EH, Scott MP (1996) Human homolog of patched, a candidate gene for the basal cell nevus carcinoma syndrome. Science 272: 1668–1671PubMed
9.
Zurück zum Zitat Kimonis VE, Goldstein AM, Pastakia B, Yang ML, Kase R, DiGiovanna JJ, Bale AE, Bale SJ (1997) Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet 69: 299–308CrossRefPubMed Kimonis VE, Goldstein AM, Pastakia B, Yang ML, Kase R, DiGiovanna JJ, Bale AE, Bale SJ (1997) Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet 69: 299–308CrossRefPubMed
10.
Zurück zum Zitat Manfredi M, Vescovi P, Bonanini M, Porter S (2004) Nevoid basal cell carcinoma syndrome: a review of the literature. Int J Oral Maxillofac Surg 33: 117–124PubMed Manfredi M, Vescovi P, Bonanini M, Porter S (2004) Nevoid basal cell carcinoma syndrome: a review of the literature. Int J Oral Maxillofac Surg 33: 117–124PubMed
11.
Zurück zum Zitat Shanley S, Ratcliffe J, Hockey A, Haan E, Oley C, Ravine D, Martin N, Wicking C, Chenevix-Trench G (1994) Nevoid basal cell carcinoma syndrome: review of 118 affected individuals. Am J Med Genet 50: 282–290PubMed Shanley S, Ratcliffe J, Hockey A, Haan E, Oley C, Ravine D, Martin N, Wicking C, Chenevix-Trench G (1994) Nevoid basal cell carcinoma syndrome: review of 118 affected individuals. Am J Med Genet 50: 282–290PubMed
12.
Zurück zum Zitat Wicking C, Gillies S, Smyth I, Shanley S, Fowles L, Ratcliffe J, Wainwright B, Chenevix-Trench G (1997) De novo mutations of the patched gene in nevoid basal cell carcinoma syndrome help to define the clinical phenotype. Am J Med Genet 73: 304–307PubMed Wicking C, Gillies S, Smyth I, Shanley S, Fowles L, Ratcliffe J, Wainwright B, Chenevix-Trench G (1997) De novo mutations of the patched gene in nevoid basal cell carcinoma syndrome help to define the clinical phenotype. Am J Med Genet 73: 304–307PubMed
Metadaten
Titel
Early recognition of basal cell naevus syndrome
verfasst von
Hermine E. Veenstra-Knol
Jan H. Scheewe
Gerrit J. van der Vlist
Menno E. van Doorn
Margreet G. E. M. Ausems
Publikationsdatum
01.03.2005
Verlag
Springer-Verlag
Erschienen in
European Journal of Pediatrics / Ausgabe 3/2005
Print ISSN: 0340-6199
Elektronische ISSN: 1432-1076
DOI
https://doi.org/10.1007/s00431-004-1597-4

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