ABSTRACT
El síndrome de carcinoma basocelular nevoide fue descrito hace cuatro décadas por Gorlin y Goltz; ha sido caracterizado por múltiples carcinoma basocelulares en áreas expuestas o no al sol. Además, los pacientes con este síndrome cursan con quistes mandibulares, alteraciones esqueléticas (costilla bífida), puntilleo palmoplantar y calcificaciones ectópicas. Este síndrome está asociado con otras alteraciones de cara, de piel y de los sistemas musculoesquelético, genitourinario, neurológico y oftalmológico, así como algunas neoplasias, incluyendo, linfoma de Hodgkin, no-Hodgkin, meduloblastoma, fibromas de ovario y fibrosarcomas, melanoma y rabdomioma fetal. Se ha establecido que para el diagnóstico de síndrome de Gorlin, se requiere de dos características principales, consideradas como criterios mayores, o bien de una alteración mayor y dos menores. Algunos estudios han demostrado que este síndrome es una alteración autosómica dominante en el cromosoma 9, lo cual es relevante como un evento temprano en la carcinogénesis. Esta serie presenta dos casos de síndrome basocelular nevoide. En uno de ellos se efectuó estudio completo familiar y se detecto que había ocho miembros más de la familia que padecían esta enfermedad
Subject(s)
Humans , Female , Adult , Middle Aged , Biopsy/statistics & numerical data , Basal Cell Nevus Syndrome/congenital , Basal Cell Nevus Syndrome/diagnosis , Basal Cell Nevus Syndrome/physiopathologyABSTRACT
Six cases of three families had basal cell nevus cacinoma syndrome of autosomal dominant inheritance. Five characteristics of this genetic disease are stressed: (1) 40% of cases had sporadic occurrence due to de novo mutations; (2) there are three phases in the manifestation of the disease: congenital abnormalities diagnosed after birth; nevoid phase during childhood with increase at adolescence; oncogen phase after the second decade; (3) symptoms have a variability and age-dependency, (4) this mutant gene can cause both congenital abnormalities and tumours; (5) these patients are very sensitive for environmental mutagens thus it is necessary to limit or to exclude UV and X-rays, cytostatic and immunosuppressive drug treatments.
Subject(s)
Basal Cell Nevus Syndrome/genetics , Skin Neoplasms/genetics , Adult , Basal Cell Nevus Syndrome/congenital , Basal Cell Nevus Syndrome/pathology , Basal Cell Nevus Syndrome/therapy , Carcinogens, Environmental , Chromosome Aberrations/genetics , Chromosome Disorders , Combined Modality Therapy , Female , Genes, Dominant , Genetic Counseling , Humans , Hungary , Male , Middle Aged , Mutagens , Mutation , Skin Neoplasms/congenital , Skin Neoplasms/pathology , Skin Neoplasms/therapyABSTRACT
A case of basal cell nevus syndrome or Gorlin's syndrome is reported in a newborn. The skin condition is associated with congenital hydrocephaly and skeletal malformations. To our knowledge, this is the first case of basal cell nevus syndrome with skin tumors present at birth and localized on the fingers.
Subject(s)
Basal Cell Nevus Syndrome/congenital , Hydrocephalus/complications , Skin Neoplasms/congenital , Basal Cell Nevus Syndrome/complications , Fingers , Humans , Infant , Male , Skin Neoplasms/complicationsSubject(s)
Basal Cell Nevus Syndrome/congenital , Fibroma/congenital , Heart Neoplasms/congenital , Neoplasms, Multiple Primary/congenital , Basal Cell Nevus Syndrome/diagnosis , Basal Cell Nevus Syndrome/pathology , Fibroma/pathology , Heart Neoplasms/pathology , Humans , Infant, Newborn , Male , Neoplasms, Multiple Primary/pathologyABSTRACT
The relative risk of melanoma associated with small congenital nevi was estimated by comparing the published frequency of histologically documented nevocellular nevi in newborn infants with the frequency of: (1) congenital nevi at the tumor site, ascertained by history in 134 patients with melanoma; and (2) tumor-associated nevi with congenital features in 234 melanoma specimens. A 21-fold increase in melanoma risk was estimated for persons with small congenital nevi when nevi were ascertained by history, and a three- to tenfold increase in risk when nevi were ascertained by histology. Based on these approximations of relative risk from historic and histologic methods of detection, persons with small congenital nevi who live to age 60 are estimated to have cumulative risks for melanoma of 4.9/100 and 0.8 to 2.6/100, respectively. The increased risk is related presumably to the markedly increased probability of melanoma arising in association with small congenital nevi. In other words, small congenital nevi may represent precursors for at least some cases of cutaneous melanoma. The estimated risk are highly dependent on the specificity of methods used for ascertainment of congenital nevi.
