Multiple Nevoid Basal Cell Carcinoma Research Articles

Odontogenic keratocysts in Nevoid basal cell carcinoma syndrome: a case report

Nevoid basal cell carcinoma syndrome, a rare autosomal dominant disorder, comprises a number of abnormalities such as multiple nevoid basal cell carcinomas, skeletal abnormalities and multiple odontogenic keratocysts. Considering the rarity of this syndrome, we present a 12-year-old boy affected by this syndrome. He had multiple okcs, calcification of falx cerebri, bifid ribs, frontal bossing and hypertelorism. Characteristic cutaneous manifestation (nevoid basal cell carcinoma) was not present in this patient. The jaw cysts were treated with marsupialization then enucleation. The dental clinician may be the first to encounter and identify this syndrome, when the multiple cystlike radiolucencies are discovered on panoramic view.

Insight into the pathogenesis of sporadic basal cell carcinoma

Sporadic basal cell carcinoma (BCC) is the commonest human cancer. Although its aggressiveness is low and metastatic potential negligible, the increasing incidence of the tumor in the Western world drives attention to its pathogenesis. In 1996, germ-line mutations in the patched receptor of the Sonic hedgehog (Shh) signaling pathway were described in the Gorlin-Goltz syndrome in association with multiple nevoid BCCs. Later, the aberrant activation of the Shh was identified in sporadic BCCs as well. Recently, the role of other tumor suppressors and DNA repair gene mutations and their relationship with UV radiation-induced DNA damage have been elucidated.

Variable expressivity of the multiple nevoid basal cell carcinoma syndrome

Four cases of multiple nevoid basal cell carcinoma syndrome are presented. No one component of the syndrome is present in all patients; instead, the many malformations associated with the syndrome have variable expressivity. The triad of jaw cysts, basal cell epitheliomas, and skeletal anomalies is well known, whereas other aspects, such as intracranial calcifications, hypertelorism, mental retardation, ectopic calcification, cleft lip and palate, cutaneous cysts, and palmar and plantar dyskeratosis, are more subtle and easily overlooked.

Cervical Spondylolisthesis Associated with the Multiple Nevoid Basal Cell Carcinoma Syndrome

Cervical spondylolisthesis is a rate vertebral anomaly that has not been associated with other major congenital abnormalities. In a 16-year-old girl, lower cervical spondylolisthesis was associated with a multiple nevoid basal cell carcinoma syndrome. The salient features of cervical spondylolisthesis include occipital headache, nuchal rigidity, torticollis, painful range of limited motion, hypesthesia, and depressed deep tendon reflexes. The treatment in the patient was anterior vertebral body fusion. Awareness of this associated problem and prompt treatment are essential for prevention of neurologic loss.

Familial cancer syndromes: A survey

Several pre-malignant diseases are known to have a genetic etiology. This study focuses attention upon precancerous disorders wherein the mode of inheritance is either well established or wherein it remains unclear even though familial aggregation of the particular diseases have been amply documented. These conditions will be discussed as useful models for systematic investigations of the host etiologic component in carcinogenesis. Our survey of hereditary precancerous syndromes includes multiple polyposis of the coli, the multiple mucosal neuroma syndrome, the Cancer Family Syndrome, Sipple's syndrome, Von Recklinghausen's neurofibromatosus, the multiple nevoid basal cell carcinoma syndrome, tuberous sclerosis, familial cutaneous malignant melanoma, and carcinoma of the breast. We have emphasized the heterogeneous character of many forms of familial cancer. Familial breast cancer associations clearly show such heterogeneity, as do colon cancer syndromes. Certain of these precancerous states are characterized by phenotypes which are clinically apparent, polyposis coli being the classic example. Others, such as Sipple's syndrome are amenable to routine screening for biochemical markers. The bulk of putative genetic cancer-predisposing problems require further basic investigation of modes of inheritance. Cancer control may be enhanced through communication of useful genetic and diagnostic information to primary care physicians. Referral of cancer clusters of possible genetic etiology from clinicians to human geneticists facilitates the necessary basic research.

Multiple nevoid basal cell carcinoma syndrome. (Report of five cases in a family).

Five cases of MNBCCS caused by a dominant gene in three generations of one family are described. The history suggests that one other member of the family is affected. Another a 6 months old child, has some suggestive features—Skin lesions and/or dental cysts were major clinical signs which caused the three older patients to present for treatment. The disease was unsuspected in two younger patients 7 and 5 years old.— Intracranial calcifications and rib malformations were present in all the patients in whom the disease was proved, and all showed generalised bone changes.

Cytogenetic studies on cultured fibroblast-like cells derived from basal cell carcinoma tissue.

Chromosomal investigations were performed on fibroblast cultures established from tumour tissue of six patients with multiple basal cell carcinoma, and from one patient with a solitary basal cell carcinoma. In four instances, fibroblast cultures from specimens of unaffected skin areas Were examined simultaneously. Metaphases of peripheral blood lymphocytes were analysed in all patients. Three individuals showed increased rates of chromosomal breakage and rearrangement; the possibility of a relationship between these findings and the Occurrence of multiple basal cell carcinoma is discussed: The chromosomal aberrations noted in one patient with multiple arsenic‐induced basal cell carcinoma probably reflect the long‐term effect of exposure to arsenic. In the second case, the aberrations found in cultures from unaffected skin and blood lymphocytes may be due to repeated X‐ray therapy of multiple nevoid basal cell carcinoma In the third patient, likewise affected by multiple nevoid basal cell carcinoma, the etiology of the increased frequency of chromosomally altered cells remains obscure. Taken together with two other observations (Happle et al. 1971, Happle & Kupferschmid 1972), the aberrations could indicate that in some patients with nevoid basal cell carcinoma syndrome the incidence of spontaneous chromosomal breakage tends to increase.

A further case of basal cell nevus syndrome and structural chromosome abnormalities.

In a 30-year-old man with typical signs of basal cell nevus syndrome (multiple nevoid basal cell carcinoma, jaw cysts, vertebral malformations, palmar and plantar pits), an increased incidence of chromosomal breakage in cultivated peripheral blood lymphocytes was observed. To interpret this finding, the following possibilities might be discussed: Thus the present case represents the third patient with nevoid basal cell carcinoma and increased incidence of chromosomal breakagein vitro.

Multiple nevoid basal cell carcinoma syndrome: radiological manifestations

The nevoid basal cell carcinoma syndrome consists of multiple basal cell carcinoma of the skin appearing at an early age, multiple skeletal and soft tissue abnormalities, typical facies, and frequently endocrine abnormalities. It is thought that it is inherited as an autosomal dominant and it seems likely that the 150 cases in the literature represent only a part of the total number of affected individuals. Seventeen patients with the nevoid basal cell carcinoma were examined radiologically. A systematic radiological survey of a series of this kind has not previously been made. The commonest abnormalities discovered radiologically included: calcification of the falx, rib deformities (bifid rib, splayed rib or pseudarthrosis of ribs), scoliosis, spina bifida, cysts of the jaws and bossing of the skull. Knowledge of the radiological manifestations of the syndrome may allow the radiologist to diagnose this entity.

Multiple nevoid basal cell carcinoma, odontogenic keratocysts and skeletal anomalies. A syndrome.

Multiple nevoid basal cell carcinoma, odontogenic keratocysts and skeletal anomalies. A syndrome.