basal cell nevus syndrome


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Related to basal cell nevus syndrome: Gorlin Syndrome, basal cell carcinoma, Gorlin's syndrome

ba·sal cell ne·vus syn·drome

[MIM*109400]
a syndrome of myriad basal cell nevi with development of basal cell carcinomas in adult life, odontogenic keratocysts, erythematous pitting of the palms and soles, calcification of the cerebral falx, and frequently skeletal anomalies, particularly ribs that are bifid or broadened anteriorly; autosomal dominant inheritance, caused by mutation in the PTCH gene, the huma n homol ogue o f the "patched" gene of Drosophila on 9q.
Synonym(s): Gorlin syndrome
Farlex Partner Medical Dictionary © Farlex 2012

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.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.

basal cell nevus syndrome

Nevoid basal cell carcinoma syndrome, basal cell carcinoma syndrome, Gorlin-Goltz syndrome A rare AD condition characterized by childhood onset of multiple nevoid basal cell carcinomas accompanied by skin defects, 'pits' in the hands and feet, in the form of 2-3 mm in diameter 'dells' occasionally filled with carcinoma, milia, sebaceous cysts, lipomas, fibromas, lymphomesenteric cysts, CNS disease–mental retardation, EEG abnormalities, calcification of dura, medulloblastoma, schizophrenia, endocrine system–ovarian cysts or fibroma, ♂ hypogonadism, ♀ escutcheon, scanty facial hair, eyes–canthal dystopia, hypertelorism, coloboma, congenital blindness, typical facies–hypertelorism, lateral displacement of medial canthi, mandibular prognathism, accentuated supraorbital ridges, jaw cysts and a broad nasal root, skeleton–spina
bifida occulta, fused, absent or cervical ribs, kyphosis, scoliosis, cervical
and thoracic vertebral fusion, bridging of sella turcica, frontal and temporoparietal bone 'bossing', shortened 4th-5th metacarpals, epithelial
jaw cysts
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.

ba·sal cell ne·vus syn·drome

(bā'săl sel nē'vŭs sin'drōm)
A syndrome of numerous basal cell nevi with development of basal cell carcinomas in adult life, odontogenic keratocysts, erythematous pitting of the palms and soles, calcification of the cerebral falx, and frequently skeletal anomalies, particularly ribs that are bifid or broadened anteriorly; autosomal dominant inheritance.
Synonym(s): Gorlin syndrome.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012

Gorlin,

Robert James, U.S. oral pathologist, 1923–.
Gorlin sign - unusual ease in touching the tip of the nose with the tongue.
Gorlin syndrome - a syndrome of myriad basal cell nevi with development of basal cell carcinomas in adult life. Synonym(s): basal cell nevus syndrome
Gorlin-Chaudhry-Moss syndrome - craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of the labia majora, and dental and ocular abnormalities.
Medical Eponyms © Farlex 2012
References in periodicals archive ?
Both groups also identified several mutations in the gene when they examined tumor cells from basal cell carcinoma patients not afflicted with basal cell nevus syndrome. One mutation is an alteration often generated by ultraviolet light, supporting the charge that exposure to the sun can trigger skin cancer, says Epstein.
Basal cell nevus syndrome is associated with mutations of the PTCH1 (patched 1) gene, the human homologue of the Drosophila patched gene, on chromosome band 9q22.
Of the 41 patients with basal cell nevus syndrome recruited thus far for the phase II trial--and randomized to 18 months of treatment with GDC-0449 or placebo 23 patients (with 953 BCC tumors) have more than 1 month of data.
While a minority of cases are linked to genetic syndromes (e.g., basal cell nevus syndrome), most cases result from ultraviolet sun exposure.
Slovis said some children with hereditary diseases--including ataxiatelangiectasia, basal cell nevus syndrome, Cockayne's syndrome, Down syndrome, Fanconi's anemia, Gardner's syndrome, Nijmegen breakage syndrome, and Usher's syndrome--are extremely sensitive to radiation and should not be exposed at all, if possible.
The drug's safety and efficacy for patients with basal cell nevus syndrome and xeroderma pigmentosum are also unknown.
Ameloblastoma has been reported to occur with calcifying odontogenic cyst, (10) traumatic neuroma, (11) aneurysmal bone cyst, (12) osteogenic sarcoma, (13) basal cell nevus syndrome, (14) glandular odontogenic cyst, (15) osteoblastoma, (16) and squamous cell carcinoma.

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