Abstract
Background: Mulvihill-Smith syndrome is a rare sporadic condition that was first recognized in 1975. A total of 11 cases have been described in the literature. The aim of this study was to describe the orofacial signs and dental anomalies, their frequency, and the relationship between Mulvihill-Smith syndrome and other progeroid syndromes via a review of the literature. Methods: A systematic PubMed search was performed to retrieve articles published between 1975 and the present day that described patients affected by Mulvihill-Smith syndrome. The search identified 14 articles, and data on 11 patients were extracted from the selected articles. Results: A total of 7 patients (63.6%) affected by Mulvihill-Smith syndrome were described as having a typical "bird" face. Dental abnormalities, including irregular shape, enamel defects, hypodontia, and taurodontism, were described in 6 patients (54.5%). All patients (100%) had multiple pigmented nevi on the face and a lack or thinning of subcutaneous tissue around the neck and face. Three patients with Mulvihill-Smith syndrome exhibited early onset of tumors of the gastrointestinal tract, including the tongue. Conclusion: Mulvihill-Smith syndrome is a clinically complex disease that may be caused by a single gene mutation. Numerous different tissues of the body are affected. This analysis of the orofacial signs may help clinicians to diagnose this rare pathology.
| Original language | English |
|---|---|
| Article number | e0656 |
| Journal | Medicine (United States) |
| Volume | 97 |
| Issue number | 18 |
| DOIs | |
| Publication status | Published - May 1 2018 |
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Keywords
- dental abnormalities
- management progerodi syndrome
- Mulvihill-Smith syndrome
- oro-facial signs
- progerian pathology
- rare disease
ASJC Scopus subject areas
- Medicine(all)
Cite this
Orofacial signs and dental abnormalities in patients with Mulvihill-Smith syndrome. / Passarelli, Pier Carmine; Pasquantonio, Guido; Manicone, Paolo Francesco; Cerroni, Loredana; Condo, Roberta; Mancini, Manuele; D'Addona, Antonio.
In: Medicine (United States), Vol. 97, No. 18, e0656, 01.05.2018.Research output: Contribution to journal › Review article
}
TY - JOUR
T1 - Orofacial signs and dental abnormalities in patients with Mulvihill-Smith syndrome
AU - Passarelli, Pier Carmine
AU - Pasquantonio, Guido
AU - Manicone, Paolo Francesco
AU - Cerroni, Loredana
AU - Condo, Roberta
AU - Mancini, Manuele
AU - D'Addona, Antonio
PY - 2018/5/1
Y1 - 2018/5/1
N2 - Background: Mulvihill-Smith syndrome is a rare sporadic condition that was first recognized in 1975. A total of 11 cases have been described in the literature. The aim of this study was to describe the orofacial signs and dental anomalies, their frequency, and the relationship between Mulvihill-Smith syndrome and other progeroid syndromes via a review of the literature. Methods: A systematic PubMed search was performed to retrieve articles published between 1975 and the present day that described patients affected by Mulvihill-Smith syndrome. The search identified 14 articles, and data on 11 patients were extracted from the selected articles. Results: A total of 7 patients (63.6%) affected by Mulvihill-Smith syndrome were described as having a typical "bird" face. Dental abnormalities, including irregular shape, enamel defects, hypodontia, and taurodontism, were described in 6 patients (54.5%). All patients (100%) had multiple pigmented nevi on the face and a lack or thinning of subcutaneous tissue around the neck and face. Three patients with Mulvihill-Smith syndrome exhibited early onset of tumors of the gastrointestinal tract, including the tongue. Conclusion: Mulvihill-Smith syndrome is a clinically complex disease that may be caused by a single gene mutation. Numerous different tissues of the body are affected. This analysis of the orofacial signs may help clinicians to diagnose this rare pathology.
AB - Background: Mulvihill-Smith syndrome is a rare sporadic condition that was first recognized in 1975. A total of 11 cases have been described in the literature. The aim of this study was to describe the orofacial signs and dental anomalies, their frequency, and the relationship between Mulvihill-Smith syndrome and other progeroid syndromes via a review of the literature. Methods: A systematic PubMed search was performed to retrieve articles published between 1975 and the present day that described patients affected by Mulvihill-Smith syndrome. The search identified 14 articles, and data on 11 patients were extracted from the selected articles. Results: A total of 7 patients (63.6%) affected by Mulvihill-Smith syndrome were described as having a typical "bird" face. Dental abnormalities, including irregular shape, enamel defects, hypodontia, and taurodontism, were described in 6 patients (54.5%). All patients (100%) had multiple pigmented nevi on the face and a lack or thinning of subcutaneous tissue around the neck and face. Three patients with Mulvihill-Smith syndrome exhibited early onset of tumors of the gastrointestinal tract, including the tongue. Conclusion: Mulvihill-Smith syndrome is a clinically complex disease that may be caused by a single gene mutation. Numerous different tissues of the body are affected. This analysis of the orofacial signs may help clinicians to diagnose this rare pathology.
KW - dental abnormalities
KW - management progerodi syndrome
KW - Mulvihill-Smith syndrome
KW - oro-facial signs
KW - progerian pathology
KW - rare disease
UR - http://www.scopus.com/inward/record.url?scp=85046571920&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85046571920&partnerID=8YFLogxK
U2 - 10.1097/MD.0000000000010656
DO - 10.1097/MD.0000000000010656
M3 - Review article
C2 - 29718885
AN - SCOPUS:85046571920
VL - 97
JO - Medicine; analytical reviews of general medicine, neurology, psychiatry, dermatology, and pediatries
JF - Medicine; analytical reviews of general medicine, neurology, psychiatry, dermatology, and pediatries
SN - 0025-7974
IS - 18
M1 - e0656
ER -