nevoid basal cell carcinoma syndrome

(redirected from Gorlin-goltz syndrome)
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nevoid basal cell carcinoma syndrome

[nē′void]
an inherited form of premalignant skin lesion. It is an autosomal-dominant trait, but the cause is unknown. It is associated with other abnormalities of the skin or bone, the nervous system, the eyes, and the reproductive system. It affects persons under the age of 20 and is accompanied by palmar pits, mandibular cysts, bifid ribs, and other birth defects.
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Nevoid basal cell carcinoma 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.
References in periodicals archive ?
Gorlin-Goltz syndrome (also known as nevoid basal cell carcinoma syndrome) was first reported in 1894, but described by Gorlin and Goltz in 1960 as a distinct entity consisting of ectodermal and mesodermal abnormalities.
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.
NBCCS is also known as Gorlin-Goltz syndrome, Gorlin's syndrome, and basal cell nevus syndrome.