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

Boaz Frenkel, Marilena Vered, Shlomo Taicher, Noam Yarom
Clinical Oral Investigations 2017, 21 (7): 2245-2251

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.

Full Text Links

Find Full Text Links for this Article


You are not logged in. Sign Up or Log In to join the discussion.

Related Papers

Remove bar
Read by QxMD icon Read

Save your favorite articles in one place with a free QxMD account.


Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"

We want to hear from doctors like you!

Take a second to answer a survey question.