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Disease Information for Basal cell nevus syndrome (Gorlin)

Clinical Manifestations

Signs & Symptoms

Particular physiognomy/Odd looking kids

Broad flat nose/facies

Craniofacial Abnormalities/Congenital

Facies particular

Brown skin discoloration

Pigmentation Lesions on Healing

Pigmented patches/skin

Bossing forehead,infants

Macrocephaly/Large head

Clinical Presentation & Variations

Presentation/Multiple deformities newborn (odd look)

Disease Progression

Course/Chronic disorder

Course/Chronic only

Demographics & Risk Factors

Population Group

Child

Population/Pediatrics population

Sex & Age Groups

Population/Child

Population/Child-Infant Only

Population/Children/all

Laboratory Tests

Abnormal Lab Findings (Non Measured)

Chromosomal abnormality (Lab)

DNATest specific/genetics laboratory/abnormality (Lab)

Diagnostic Test Results

X-RAY

Xray/Subcutaneous ossification centers/calcification

Xray/Muscle calcification

Xray/Soft tissue calcification/muscle/subcutaneous

Xray/Frontal bossing, infant/Skull

Xray/Parietal bossing/Skull

Associated Diseases & Rule outs

Rule Outs

Basal cell carcinoma

Associated Disease & Complications

Primary Brain Neoplasm

Rib anomalies/Hypoplastic/deformed

Disease Mechanism & Classification

Class

CLASS/Faces-cranio online database (ex)

CLASS/Dermatologic/Subcutaneous (category)

Pathophysiology

Pathophysiology/Gene locus 9q22.3

Pathophysiology/Gene locus 9q31

Pathophysiology/Gene locus Chromosome 10

Pathophysiology/Gene locus Chromosome 10q

Pathophysiology/Gene locus Chromosome 9

Pathophysiology/Gene locus Chromosome 9q

Pathophysiology/Gene Locus Identified/OMIM database

Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)

Pathophysiology/Oncogene PRCA1/Locus 10q

Process

PROCESS/Autosomal dominant hereditary disease (ex).

PROCESS/Congenital/developmental (category)

PROCESS/Eponymic (category)

PROCESS/Hereditofamilial (category)

PROCESS/Neoplastic (category)

PROCESS/Pre-Malignant condition (ex)

PROCESS/Anomalies/Deformities/Malformations (EX)

PROCESS/Dystostosis/craniofacial (ex)

Synonyms

Synonym

Basal cell carcinoma syndrome, Basal cell naevus syndrome, Basal cell nevus syndrome, basal cell nevus syndrome (BCNS), BCNS, BCNS Basal cell naevus syndr, BCNS Basal cell naevus syndrome, BCNS Basal cell nevus syndr, BCNS Basal cell nevus syndrome, fifth phacomatosis, Gorlin Goltz syndrome, GORLIN SYNDROME, Gorlin syndrome (disorder), Gorlin syndrome 2, Gorlin's syndrome, hereditary cutaneomandibular polyoncosis, jaw cysts basal cell tumors skeletal anomalies syndrome, multiple basal cell carcinoma syndrome multiple basal cell nevus syndrome, multiple hereditary cutaneomandibular polyoncosis, multiple nevoid basal cell carcinoma syndrome, multiple nevoid basal cell carcinoma syndrome (MNBCCS), multiple nevoid basal cell epithelioma jaw cysts bifid rib syndrome, Naevoid basal cell carcinoma syndrome, Naevoid BCC syndrome, NBCCS, NBCCS Naevoid basal cell carcinoma syndrome, NBCCS Nevoid basal cell carcinoma syndrome, NBCCS Naev basal cell carc syn, nevoid basal cell carcinoma (NBCC) syndrome (NBCCS NBS), NEVOID BASAL CELL CARCINOMA SYNDROME, nevoid basal cell epithelioma jaw cysts bifid rib syndrome, Nevoid BCC syndrome, Nevus Syndrome Basal Cell, odontogenic keratocytosis skeletal anomalies syndrome, Syndrome Gorlin, Synonym/Fifth phakomatosis, Synonym/Hermans-Herzberg phakomatosis, Synonym/Nevoid basal cell carcinoma syndrome, Synonym/Nevus, epitheliomatosis mult/jaw cysts

Definition

Nevoid Basal Cell Carcinoma Syndrome; Basal Cell Nevus Syndrome; ; Gorlin Syndrome; Gorlin-Goltz Syndrome; Hermans-Herzberg Phakomatosis; NBCCS; Nevus, Epitheliomatosis Multiplex; Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin or Gorlin-Goltz syndrome, is an inherited disorder characterized by a tendency to develop multiple cancerous cysts, lesions (nevi) of the skin and lining of the mouth, and other developmental and systemic defects; Almost any of the body"s organ systems may be affected; The lesions (nevus, nevi) are usually found in the outer layer of the skin (epidermis) or in the mucous membranes of the mouth; The connective tissues

and the nervous and vascular (blood vessel) systems of the body may also be affected; The skin lesions are limited in size, but not in number, and are not usually due to any external causes--------[NORD]---------------------

(Edit)

External Links Related to Basal cell nevus syndrome (Gorlin)

PubMed (National Library of Medicine)

NGC (National Guideline Clearinghouse)

Medscape (eMedicine)

Harrison's Online (accessmedicine)

NEJM (The New England Journal of Medicine)

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