Oral Manifestations and Dental Management Considerations of Lipoid Proteinosis: A Case Report and Review of Literature

Abstract

Lipoid proteinosis (LP) is a sporadic congenital metabolic disorder characterized by deposition of hyaline material in various organs. It has a very low prevalence rate of approximately 300 cases reported up to now. It has a vast spectrum of manifestations ranging from asymptomatic skin lesions to the rare but life-threatening laryngeal obstruction. The knowledge of the clinical features of the disease such as hoarseness of voice from infancy, mucocutaneous manifestations, moniliform blepharosis (multiple, beaded papules along the eyelash line) and dental anomalies such as hypoplasia or aplasia of teeth may help oral health care practitioners improve the quality of their patient's life. This case report describes a typical 10-year-old boy who presented to the Department of Pediatric Dentistry, Faculty of Dentistry, University of Medical Sciences, Kerman, Iran with the typical recurrent skin and mucosal lesions, hoarseness, and blepharosis. In addition, he stated a gradual hearing loss, which is not reported as a common manifestation. Moreover, psychosocial issues regarding his appearance and quality of voice had led to absenteeism from school. A punch biopsy obtained from a lesion on his forearm revealed the characteristic histopathological view and directed to the diagnosis of lipoid proteinosis. Dental treatment was initiated with focus on preventive dentistry due to the restricted mouth opening, which was expected to get worse overtime. There is no definitive cure for this disease and the treatment is symptomatic in most cases. A proper workup can result in early diagnosis and management of dental complications, which are difficult to control due to restricted mouth opening, which may significantly affect the patient's social life.

Keywords: Acneiform scar; Hoarseness; Lipoid proteinosis; Moniliform blepharosis; Oral Manifestation.

Figure 1

a: Frontal view demonstrating acneiform scars and blisters on the face and b: acneiform scars and blisters on forearm

Figure 2

a: Histopathologic view revealing slight keratosis and mild acanthosis of pigmented epidermis, b: Thickened, homogenized, hyalinized walls of vessels

Figure 3

Moniliform blepharosis (multiple, beaded papules along the eyelash line)

Figure 4

Restricted mouth opening

Figure 5

Severe ulceration of tip of the tongue, firm nodular buccal and lingual mucosa

Figure 6

Panoramic radiograph reveals missing of upper left lateral incisor and no other pathological lesion