Search PubMed⌕ Search
Home/Archive/PubMed

PubMed · 1480858

Genodermatoses with profound malignant potential.

I P Tokar·M C Fraser·S J Bale
View original source ↗Export metadata ↓

Abstract

There are a number of heritable disorders that have some association with skin cancer. Xeroderma pigmentosum, nevoid basal cell carcinoma syndrome, and familial melanoma and dysplastic nevi are three disorders associated with an extremely high rate of cutaneous malignancy. There is no known cure for these disorders, thus, patients and families need information about the disease process, treatment options, and guidelines aimed at prevention and early detection of skin cancer.

Explore related subjects

Basal Cell Nevus SyndromeDysplastic Nevus SyndromeFemaleHumansMaleMelanomaPedigreeRisk FactorsSkin NeoplasmsXeroderma PigmentosumJournal ArticleResearch Support, Non-U.S. Gov'tReview

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

I P Tokar, M C Fraser, S J Bale. 1992. Genodermatoses with profound malignant potential.. https://doi.org/10.1016/0749-2081(92)90040-a

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

PubMed2003

Spontaneous recovery from a medulloblastoma by a female with Gorlin-Goltz syndrome.

Gorlin-Goltz syndrome is characterized by nevoid basal cell carcinomas, odontogenic keratocysts of the jaws, palmar and plantar pits, falx calcifications, and various cancer susceptibilities attributed to a mutation in a tumor suppressor gene. We present an 11-year-old female with Gorlin-Goltz syndrome. A medulloblastoma was diagnosed when she was 4 years old. She received total excision of the tumor and adjuvant chemotherapy and radiotherapy. One year later, the tumor relapsed with cerebral spinal fluid seeding. She recovered spontaneously with no treatment, and she has not developed basal cell carcinoma within 6 years. This patient with Gorlin-Goltz syndrome had a good prognosis with regard to the medulloblastoma. Diagnosis of the syndrome should be made as early as possible to avoid aggressive radiotherapy that may induce basal cell carcinomas.

Basal Cell Nevus Syndrome↗
PubMed2003

A new germline mutation of the PTCH gene in a Japanese patient with nevoid basal cell carcinoma syndrome associated with meningioma.

We employed polymerase chain reaction and DNA sequencing analysis to characterize the PTCH gene in a Japanese nevoid basal cell carcinoma syndrome (NBCCS) patient suffering from meningioma, multiple basal cell carcinoma and epidermal cysts. Direct sequence analyses revealed a novel single base deletion at nucleotide 2613 in exon 16 (2613delC) in one PTCH allele, resulting in the frame shift and the introduction of a premature termination codon in this mutated allele.

Basal Cell Nevus Syndrome↗