PMID- 10066029
OWN - NLM
STAT- MEDLINE
DCOM- 19990519
LR  - 20220331
IS  - 0009-9163 (Print)
IS  - 0009-9163 (Linking)
VI  - 55
IP  - 1
DP  - 1999 Jan
TI  - Nevoid basal cell carcinoma syndrome. Clinical findings in 37 Italian affected 
      individuals.
PG  - 34-40
AB  - Nevoid basal cell carcinoma syndrome (NBCCS) is a hereditary condition 
      transmitted as an autosomal dominant trait with complete penetrance and variable 
      expressivity. The syndrome is characterised by numerous basal cell carcinomas 
      (BCCs), odontogenic keratocysts of the jaws, palmar and/or plantar pits, skeletal 
      abnormalities and intracranial calcifications. In this paper, the clinical 
      features of 37 Italian patients are reviewed. Jaw cysts and calcification of falx 
      cerebri were the most frequently observed anomalies, followed by BCCs and 
      palmar/plantar pits. Similar to the case of African Americans, the relatively low 
      frequency of BCCs in the Italian population is probably due to protective skin 
      pigmentation. A future search based on mutation screening might establish a 
      possible genotype phenotype correlation in Italian patients.
FAU - Lo Muzio, L
AU  - Lo Muzio L
AD  - Division of Oral Pathology and Medicine, University Federico II, Naples, Italy. 
      lomuziol@tin.it
FAU - Nocini, P F
AU  - Nocini PF
FAU - Savoia, A
AU  - Savoia A
FAU - Consolo, U
AU  - Consolo U
FAU - Procaccini, M
AU  - Procaccini M
FAU - Zelante, L
AU  - Zelante L
FAU - Pannone, G
AU  - Pannone G
FAU - Bucci, P
AU  - Bucci P
FAU - Dolci, M
AU  - Dolci M
FAU - Bambini, F
AU  - Bambini F
FAU - Solda, P
AU  - Solda P
FAU - Favia, G
AU  - Favia G
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Denmark
TA  - Clin Genet
JT  - Clinical genetics
JID - 0253664
RN  - 0 (Membrane Proteins)
RN  - 0 (PTCH1 protein, human)
RN  - 0 (Patched Receptors)
RN  - 0 (Patched-1 Receptor)
RN  - 0 (Receptors, Cell Surface)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Basal Cell Nevus Syndrome/*diagnosis/pathology
MH  - Bone and Bones/abnormalities
MH  - Central Nervous System/abnormalities
MH  - Cervical Vertebrae/abnormalities/diagnostic imaging
MH  - Child
MH  - Eye Abnormalities/diagnosis
MH  - Female
MH  - Humans
MH  - Italy
MH  - Male
MH  - Membrane Proteins/genetics
MH  - Middle Aged
MH  - Odontogenic Cysts/diagnosis
MH  - Patched Receptors
MH  - Patched-1 Receptor
MH  - Radiography
MH  - Receptors, Cell Surface
MH  - Sella Turcica/abnormalities/diagnostic imaging
MH  - Shoulder/abnormalities
MH  - Skull/abnormalities/diagnostic imaging
MH  - Stomatognathic System Abnormalities/diagnosis
EDAT- 1999/03/05 00:00
MHDA- 1999/03/05 00:01
CRDT- 1999/03/05 00:00
PHST- 1999/03/05 00:00 [pubmed]
PHST- 1999/03/05 00:01 [medline]
PHST- 1999/03/05 00:00 [entrez]
AID - 10.1034/j.1399-0004.1999.550106.x [doi]
PST - ppublish
SO  - Clin Genet. 1999 Jan;55(1):34-40. doi: 10.1034/j.1399-0004.1999.550106.x.