basal cell nevus syndrome

(redirected from basal cell carcinoma 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

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.

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

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.

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.
References in periodicals archive ?
Biallelic alterations of the large tumor suppressor 1 (LATS1) gene in infiltrative, but not superficial, basal cell carcinomas in a Japanese patient with nevoid basal cell carcinoma syndrome.
Naevoid basal cell carcinoma syndrome in a 22-month-old child presenting with multiple basal cell carcinomas and a fetal rhabdomyoma.
Keratocystic odontogenic tumors have been a subject of great interest because of their locally aggressive behavior, specific histopathologic characteristics, high recurrence rate, and tendency toward the development of multiple lesions, especially when they are seen in association with nevoid basal cell carcinoma syndrome.
Diagnosis and Treatment of Patients with Nevoid Basal Cell Carcinoma Syndrome [Gorlin-Goltz Syndrome (GGS)].
cysts (OKCs) can occur as a component of nevoid basal cell carcinoma syndrome (NBCCS).
Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome.
Nevoid basal cell carcinoma syndrome (NBCCS), also known as basal cell nevus syndrome, multiple basal cell carcinoma syndrome, Gorlin syndrome, and Gorlin-Goltz syndrome, is an inherited medical condition involving defects within multiple body systems such as the skin, nervous system, eyes, endocrine system, and bones.
Nevoid basal cell carcinoma syndrome (NBCCS) is characterized by multiple jaw keratocysts, basal cell carcinomas, macrocephaly, facial milia, skeletal anomalies, and ectopic calcification of the falx.
We report the first patient with nevoid basal cell carcinoma syndrome and a fetal rhabdomyoma of the tongue.
Basal cell nevus syndrome or nevoid basal cell carcinoma syndrome (BCNS; Gorlin syndrome) is a rare autosomal, dominantly inherited condition with variable expressivity, although 30% to 50% of cases are due to spontaneous mutations.
We describe the imaging findings in a 13-year-old boy with nevoid basal cell carcinoma syndrome (NBCCS).
The gene is part of the same pathway implicated in nevoid basal cell carcinoma syndrome (NBCCS) or Gorlin-Goltz syndrome, though its expression is less severe.

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