Document Type : Case Report
Social Determinants on Oral Health Research Center, Kerman University of Medical Sciences, Kerman, Iran.
Pediatric Dentistry Resident, School of Dentistry, Kerman University of Medical Sciences, Kerman, Iran.
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.
- Deshpande P, Guledgud MV, Patil K, Hegde U, Sahni A, Huchanahalli*Sheshanna S. Lipoid proteinosis: a rare encounter in dental office. Case Rep Dent. 2015; 2015: 670369.
- Kabre V, Rani S, Pai KM, Kamra S. Lipoid proteinosis: A review with two case reports. Contemp Clin Dent. 2015; 6: 233-236.
- Yükkaldıran A, Aksoy M, Yeşilova Y. The frequency of laryngeal involvement in lipoid proteinosis patients. Ann Med Res. 2019; 26: 909-912.
- Lourenço AG, Araújo VC, Passador-Santos F, Sperandio M, Neville BW, Dorta RG. Lipoid proteinosis: a rare disease in pediatric dentistry. Braz Dent J. 2020; 31: 186-189.
- Poyrazoğlu Ş, Günöz H, Darendeliler F. Severe Short Stature: an unusual finding in lipoid proteinosis. J Clin Res Pediatr Endocrinol 2008; 1: 97.
- Ravi Prakash SM, Verma S, Sumalatha MN, Chattopadhyay S. Oral manifestations of lipoid proteinosis: A case report and literature review. Saudi Dent J. 2013; 25: 91-94.
- Emsley RA, Paster L. Lipoid proteinosis presenting with neuropsychiatric manifestations. J Neurol Neurosurg Psychiatry. 1985; 48: 1290-1292.
- Hamada T, McLean WH, Ramsay M, Ashton GH, Nanda A, Jenkins T, et al. Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Hum Mol Genet. 2002; 11: 833-840.
- Kachewar SG, Kulkarni DS. A novel association of the additional intracranial calcification in lipoid proteinosis: a case report. J Clin Diagnostic Res 2012; 6: 1579.
- Samdani AJ, Azhar A, Shahid SM, Nawab SN, Shaikh R, Qader SA, et al. Homozygous frame shift mutation in ECM1 gene in two siblings with lipoid proteinosis. J Dermato Case Rep. 2010; 4: 66-70.
- Alraddadi M. Lipoid proteinosis in Middle East and North Africa: A case report and literature review. Int J Med Sci Pub Health. 2019; 8: 95-101.
- An I, Güldür ME, Aksoy M, Yeşilova Y, Ozturk Histopathological Findings in Patients with Lipoid Proteinosis. J Turk Acad Dermatol. 2019; 13: 99-102.
- Brar BK, Jain S, Brar SK. Lipoid proteinosis: A case with distinct histopathological and radiological findings. J Cutan Pathol. 2017; 44: 887-891.
- Rao RS, Betkerur SS, Babu C, Sudha VM. Lipoid proteinosis. J Oral Maxillofac Patho. 2009; 13: 81-84.
- Sethuraman G, Tejasvi T, Khaitan BK, Handa KK, Rao S, Singh MK, et al. Lipoid proteinosis in two siblings: a report from India. J Dermatol. 2003; 30: 562-565.
- Appenzeller S, Chaloult E, Velho P, de*Souza EM, Araújo VZ, Cendes F, et al. Amygdalae calcifications associated with disease duration in lipoid proteinosis. J Neuroimaging. 2006; 16: 154-156.
- Chakrabarti K, Sengupta SK, Ghosh AK, Das SK. Lipoid proteinosis (Urbach-Wiethe syndrome) with dwarfism. Indian Pediatr. 1991; 28: 75-78.
- Uchida T, Hayashi H, Inaoki M, Miyamoto T, Fujimoto W. A failure of mucocutaneous lymphangiogenesis may underlie the clinical features of lipoid proteinosis. Br J Dermato. 2007; 156: 152-157.
- Bazopoulou-Kyrkanidou E, Tosios KI, Zabelis G, Charalampo-poulou S, Papanicolaou SI. Hyalinosis cutis et mucosae: gingival involvement. J Oral Pathol. 1998; 27: 233–237.