The syndromic multiple odontogenic keratocyst in siblings: A familial study

Abstract

Purpose:Our aim is to demonstrate the importance of postoperative assessment and highlight the need for a lifetime follow-up of the patient and the siblings in cases of Nevoid Basal Cell Carcinoma Syndrome (NBCCS).Materials and Methods:Three siblings out of which two were of syndromic multiple odontogenic keratocysts, with multiple basal cell nevae were followed-up for manifestations of NBCCS from year 2001 till date. Two of the patients were treated for multiple bilateral odontogenic keratocysts (OKCs). Familial occurrence of the syndromic multiple odontogenic keratocysts was studied.Result:Although NBCCS is associated with multiple OKCs, it does not imply that a patient should have more than one cyst at a given point in time, rather it refers to the lifetime history of the patient. Early diagnosis will often make it possible to use conservative therapies rather than complex treatments.Conclusion:Recognition of the syndrome permits early treatment in other but possibly asymptomatic relatives. Close attention of the family and past medical history and physical examination will alert the clinician to its presence, allowing for appropriate genetic counseling and serial screening for the development of malignancies and other complications besides OKCs.

Multiple Odontogenic Keratocysts in Nonsyndromic Patients—A Case Report and Review of Literature

“…The absence of all the manifestations of NBCCS may be due to variability of the PTCH gene expression. 9 Familial occurrence of syndromic multiple OKCs has also been reported in literature that emphasizes on taking familial history. 9 Shear suggested that two cysts from one syndrome patient that occurred on opposite sides of the mandible had the same pattern of allelic loss, which suggests genetic mutation occurring at a very early stage of embryogenesis.…”

“…9 Familial occurrence of syndromic multiple OKCs has also been reported in literature that emphasizes on taking familial history. 9 Shear suggested that two cysts from one syndrome patient that occurred on opposite sides of the mandible had the same pattern of allelic loss, which suggests genetic mutation occurring at a very early stage of embryogenesis. 9 Shear also proposed that that Knutson's "two-hit hypothesis of cancer development" may also explain the transformation of OKC into neoplasia.…”

“…9 Shear suggested that two cysts from one syndrome patient that occurred on opposite sides of the mandible had the same pattern of allelic loss, which suggests genetic mutation occurring at a very early stage of embryogenesis. 9 Shear also proposed that that Knutson's "two-hit hypothesis of cancer development" may also explain the transformation of OKC into neoplasia. 3 , 4 , 8 The cyst spreads along the bone marrow resulting in more destruction before the appearance of any significant clinical manifestations.…”

“…4 , 8 OKCs are locally aggressive, destructive, and highly recurrent with a recurrence rate of 3-60% that varies depending on the surgical approach taken. 9 Literature reports a comparatively higher recurrence rates of OKC as a component of NBCCS due to the deep staining in the palisading basal layer that indicates a greater potential for proliferation, more common parakeratinization and satellite cysts, higher number of satellite rests of tumor, inhibition of apoptosis, angiogenesis, more solid areas of epithelial proliferation, and more odontogenic epithelial rests within the fibrous capsule. 9 Li et al reported the high levels of epidermal growth factor receptor (EGFR) expression in OKCs which supported the view that they have an intrinsic growth potential not present in other odontogenic cysts, also expression levels of TGF-a, EGF, and EGFR suggest the involvement of growth factors in their pathogenesis, and the correlation between Ki-67 and PCNA reflects cell proliferation which has been considered to be histological markers and prognostic indicators.…”

Síndrome de Gorlin Goltz e suas implicações odontológicas

“…O Tumor Odontogênico Ceratocístico é uma neoplasia cística intraóssea, derivada de fragmentos de lâmina dental, tecido epitelial e remanescentes do folículo dentário, estruturas que darão origem aos elementos dentários no processo de odontogênese. Apresenta crescimento lento e indolor, alta atividade proliferativa celular, comportamento biológico localmente invasivo, agressivo e destrutivo 11 , bem como alto índice de recidiva 2,7,12 . Sua característica agressiva é determinada pela reabsorção radicular, deslocamento de elementos dentais 9 e fraturas patológicas 11 .…”