nevoid basal cell carcinoma syndrome


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Related to nevoid basal cell carcinoma syndrome: Gorlin Syndrome, ameloblastoma, Basal Cell Nevus Syndrome, Calcifying odontogenic cyst

basal cell nevus syndrome

An uncommon autosomal dominant condition (OMIM:109400) characterised by childhood onset of multiple nevoid basal cell carcinomas accompanied by “pits” in the hands and feet (in the form of 2–3-mm-diameter “dells”, occasionally filled with carcinoma), milia, sebaceous cysts, lipomas, fibromas, lympho-mesenteric cysts, CNS disease (mental retardation), EEG abnormalities, calcification of dura, medulloblastoma, schizophrenia, ovarian cysts or fibroma, male hypogonadism, female escutcheon, scanty facial hair, canthal dystopia, hypertelorism, coloboma, congenital blindness, hypertelorism, lateral displacement of medial canthi, frontoparietal bossing, mandibular prognathism, accentuated supraorbital ridges, jaw cysts and a broad nasal root, spina bifida occulta, fused, absent or cervical ribs, kyphosis, scoliosis, cervical and thoracic vertebral fusion, bridging of sella turcica, shortened 4th–5th metacarpals, epithelial jaw cysts.
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References in periodicals archive ?
Most germ-line mutations in the nevoid basal cell carcinoma syndrome lead to a premature termination of the PATCHED protein, and no genotype-phenotype correlations are evident.
(2-4) However, no one has reported an FR of the tongue in a patient with nevoid basal cell carcinoma syndrome (NBCCS).
Fine mapping of the locus for nevoid basal cell carcinoma syndrome on chromosome 9q.
Nevoid basal cell carcinoma syndrome: Review of 118 affected individuals.
Nevoid basal cell carcinoma syndrome: Molecular biology and new hypotheses.
Nevoid basal cell carcinoma syndrome. J Am Acad Dermatol 2000;43:1092-3.
Correlating imaging and histopathology of an odontogenic keratocyst in the nevoid basal cell carcinoma syndrome. Dentomaxillofac Radiol 1997;26:195-9.