Acta Dermatoven APA Vol 16 2007 No 4 - PDF document

Acta Dermatoven APA Vol 16, 2007, No 4 Gorlin-Goltz syndromeC l i n i c a l o b s e r v a t i o n carcinoma,syndrome,pathogenesis,new dataM. Ljubenovi}, D. Ljubenovi}, I. Bini}, D. Jovanovi}, and M. Stanojevi}Gorlin-Goltz syndrome, also known as basal cell nevus syndrome, is an uncommon, autosomal domi-nant inherited disorder, which is characterized by numerous basal cell carcinomas, maxillary keratocysts,and musculoskeletal malformations. Occasionally, it is associated with aggressive basal cell carcino-mas and internal malignancies. Early diagnosis and treatment are essential, as well as genetic counsel-ing. A patient with characteristic symptoms of nevoid basal cell carcinomas and a review of the literatureare presented.nant inherited disorder, which is characterized by nu-with the syndrome), maxillary keratocysts (present inabout 75% of patients) and musculoskeletal malforma-tions. It was first reported by Jarisch and White in 1894.1959 suggested a relationship between basal cell epi-theliomas and developmental malformations. Robert J.Gorlin and Robert W. Goltz described the distinc

t syn-drome, consisting of the presence of multiple nevoidby region (2). It appears in all ethnic groups, but mostoften in whites; males and females are equally affectedjaw cysts and musculoskeletal anomalies are lesser-We present a 47-year-old male patient that visitedchanges, predominantly on photoexposed areas, alleg-edly starting 1 year ago. The examination revealed nu-merous (over 50) papules and nodes predominantly on KEY U M M A R Y Acta Dermatoven APA Vol 16, 2007, No 4 to 1 cm in diameter (Fig. 1). Some of these were shinywere covered by a crust (Fig. 2). The skin of his palmsrevealed a coarse face with dense, fused eyebrows, andcerebri and a cyst in the left maxillary region (Fig. 3).laboratory tests were normal. Ultrasound examinationof the abdomen did not show any abnormalities. His-frontal region confirmed the diagnosis of basal cell car-in members of his family or closer relatives.chest, and back were removed; histopathology identi-fied all as basal cell carcinomas. Our patients most re-cent visit to the Clinic for Dermatology and Venereol-on his face. The largest was

a tumor on his lower lip(Fig. 4). It was excised and histopathology confirmed awe repeated the laboratory tests and ultrasound exami-nations, which were normal. Computerized tomogra-abnormalities. We insisted on regular checks-ups.Gorlin-Goltz syndrome is autosomal dominant witha high penetrance and variable expressivity. It is causedby mutations in the patched tumor suppressor geneing basis for this disease is an abnormality in theway in embryogenesis is well known. The PTCH geneproduct is part of a receptor for the protein called Sonicvelopment (8). More recent investigations reveal the roleof the Hh pathway in cell cycle regulation in adults. Inthe Drosphila model, the primary receptor for the HhUnder normal conditions, Hh, when present, binds Ptc,releasing Smo to affect downstream events such as cellgrowth and differentiation. Based on this model, inac-lead to overactivity of Smo, resulting in neoplasm for-noma were established by Evans et al., and modifiedpresent as described below (2, 3):I.Major criteria:…More than two basal cell carcinomas or one basalcell carcinoma at younger tha

n 30 years of age or more…Any odontogenic keratocyst (proven on histology)…Three or more palmar or plantar pits (present in…Ectopic calcification: Lamellar or early at younger…Falx cerebri calcification.…Positive family history of nevoid basal cell carci-cerebri calcification as a pathognomonic symptom ofGorlin-Goltz syndrome (9).II.Minor criteria:…Congenital skeletal anomalies; fused, splayed, miss-…Occipital-frontal circumference more than 97%.…Cardiac or ovarian fibroma.…Medulloblastoma.…Lymphomesenteric cysts.…Congenital malformations such as cleft lip or pal-syndrome are:I.Skeletal anomalies:II.Craniofacial anomalies:Frontal bossing: increased size of calvaria (occipi-tofrontal circumference 60 cm or more in adults);falxes; tentorium cerebelli calcification; bridged sellaness due to corneal opacity; congenital or precociousnerve; convergent or divergent strabismus; and nystag-III.Neurological anomalies:tal hydrocephalus; meningioma; mental retardation;IV.Oropharyngeal anomalies:Cleft lip/palate; high arched palate or prominentGorlin-Goltz syndromeC l i n i c a l o b s e r v a t i o