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Lipoid proteinosis unveiled by oral mucosal lesions: a comprehensive analysis of 137 cases

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Abstract

Objectives

Lipoid proteinosis (LP) is a rare autosomal recessive disorder characterized by deposits of hyaline material within skin and mucous membranes of the upper aerodigestive tract, especially the vocal cords. We aimed to investigate possible associations between oral LP (oLP) manifestations and demographic data and extra-oral lesions.

Material and methods

Cases of oLP were collected following a systematic search of Medline’s PubMed and Google Scholar (1948–2014). We added four new cases. Demographic data, consanguineous marriage status, oral lesion site(s), and related symptoms were analyzed for potential associations.

Results

A total of 137 patients with oLP lesions were analyzed. Parental consanguinity status was known for 52 patients, and the parents were not related in 38 (73%) of them. The tongue was the most commonly affected oral site (68%), and it was associated with significantly more affected family members (P = 0.002). The palate and gingiva were the least involved sites (25 and 6%, respectively): the former had a tendency to be affected in younger patients and the latter in older ones. Patients with palatal and labial lesions had significantly less skin scarring (P < 0.001 and P = 0.002, respectively).

Conclusions

Extra-oral manifestations are easily recognizable and they can lead to early and accurate diagnosis of LP. In spite of early voice manifestations, diagnosis of LP might be obvious only later in life and usually sought due to presence of oral lesions.

Clinical relevance

The diagnosis of oLP with obscure extra-oral signs is challenging, with dental surgeons playing a key role in its establishment.

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Author information

Authors and Affiliations

  1. Department of Oral and Maxillofacial Surgery, Rambam Health Care Campus, 8 Ha’Aliyah Street, 3109601, Haifa, Israel

    Boaz Frenkel

  2. Department of Oral Pathology and Oral Medicine of the Maurice and Gabriela Goldschleger School of Dental Medicine, Tel Aviv University, Tel Aviv, Israel

    Marilena Vered & Noam Yarom

  3. Department of Pathology, Sheba Medical Center, Tel Hashomer, Israel

    Marilena Vered

  4. Department of Oral and Maxillofacial Surgery, Sheba Medical Center, Tel Hashomer, Israel

    Shlomo Taicher & Noam Yarom

Authors
  1. Boaz Frenkel
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  2. Marilena Vered
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  3. Shlomo Taicher
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Correspondence to Boaz Frenkel.

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Conflict of interest

The authors declare that they have no conflict of interest.

Funding

The work was supported by the Department of Oral and Maxillofacial Surgery, Sheba Medical Center, Tel Hashomer, Israel.

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This article does not contain any studies with human participants or animals performed by any of the authors.

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For this type of study, formal consent is not required.

Additional information

Shlomo Taicher retired.

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Frenkel, B., Vered, M., Taicher, S. et al. Lipoid proteinosis unveiled by oral mucosal lesions: a comprehensive analysis of 137 cases. Clin Oral Invest 21, 2245–2251 (2017). https://doi.org/10.1007/s00784-016-2017-7

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  • DOI: https://doi.org/10.1007/s00784-016-2017-7

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