Orofacial signs and dental abnormalities in patients with Mulvihill-Smith syndrome

Pier Carmine Passarelli, Guido Pasquantonio, Paolo Francesco Manicone, Loredana Cerroni, Roberta Condo, Manuele Mancini, Antonio D'Addona

Research output: Contribution to journalReview article

1 Citation (Scopus)

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 languageEnglish
Article numbere0656
JournalMedicine (United States)
Volume97
Issue number18
DOIs
Publication statusPublished - May 1 2018

Fingerprint

Tooth Abnormalities
Anodontia
Pigmented Nevus
Subcutaneous Tissue
Dental Enamel
Tongue
PubMed
Birds
Gastrointestinal Tract
Progeria short stature pigmented nevi
Tooth
Neck
Pathology
Mutation

Keywords

  • dental abnormalities
  • management progerodi syndrome
  • Mulvihill-Smith syndrome
  • oro-facial signs
  • progerian pathology
  • rare disease

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Passarelli, P. C., Pasquantonio, G., Manicone, P. F., Cerroni, L., Condo, R., Mancini, M., & D'Addona, A. (2018). Orofacial signs and dental abnormalities in patients with Mulvihill-Smith syndrome. Medicine (United States), 97(18), [e0656]. https://doi.org/10.1097/MD.0000000000010656

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 journalReview article

Passarelli, PC, Pasquantonio, G, Manicone, PF, Cerroni, L, Condo, R, Mancini, M & D'Addona, A 2018, 'Orofacial signs and dental abnormalities in patients with Mulvihill-Smith syndrome', Medicine (United States), vol. 97, no. 18, e0656. https://doi.org/10.1097/MD.0000000000010656
Passarelli PC, Pasquantonio G, Manicone PF, Cerroni L, Condo R, Mancini M et al. Orofacial signs and dental abnormalities in patients with Mulvihill-Smith syndrome. Medicine (United States). 2018 May 1;97(18). e0656. https://doi.org/10.1097/MD.0000000000010656
Passarelli, Pier Carmine ; Pasquantonio, Guido ; Manicone, Paolo Francesco ; Cerroni, Loredana ; Condo, Roberta ; Mancini, Manuele ; D'Addona, Antonio. / Orofacial signs and dental abnormalities in patients with Mulvihill-Smith syndrome. In: Medicine (United States). 2018 ; Vol. 97, No. 18.
@article{80861e25f5c64899a396e17ae0ea60f4,
title = "Orofacial signs and dental abnormalities in patients with Mulvihill-Smith syndrome",
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.",
keywords = "dental abnormalities, management progerodi syndrome, Mulvihill-Smith syndrome, oro-facial signs, progerian pathology, rare disease",
author = "Passarelli, {Pier Carmine} and Guido Pasquantonio and Manicone, {Paolo Francesco} and Loredana Cerroni and Roberta Condo and Manuele Mancini and Antonio D'Addona",
year = "2018",
month = "5",
day = "1",
doi = "10.1097/MD.0000000000010656",
language = "English",
volume = "97",
journal = "Medicine; analytical reviews of general medicine, neurology, psychiatry, dermatology, and pediatries",
issn = "0025-7974",
publisher = "Lippincott Williams and Wilkins",
number = "18",

}

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

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 -