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 Table of Contents  
Year : 2015  |  Volume : 27  |  Issue : 3  |  Page : 428-431

Lipoid proteinosis with oral manifestation in a geriatric patient: A unique case report

1 Department of Oral Medicine and Radiology, Tamil Nadu Government Dental College and Hospital, Chennai, India
2 Department of Dental Surgery, Government General Hospital, Aranthangi, Tamil Nadu, India

Date of Submission04-Sep-2015
Date of Acceptance07-Nov-2015
Date of Web Publication25-Nov-2015

Correspondence Address:
Sureshkumar Mahalingam
Department of Dental Surgery, Government General Hospital, Pudukottai District, Aranthangi - 614 616, Tamil Nadu
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0972-1363.170492

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Lipoid proteinosis is a very rare, autosomal recessive disorder, characterized by hoarseness of voice, skin scarring, beaded papules along the eyelid margins, and an inability to protrude the enlarged tongue. Infiltration of hyaline material to various organs is found to be responsible for the various manifestations of this disorder. It is mainly prevalent in early infancy and childhood, and is rare in older adults. In this article, we report a 61-year-old patient with the skin and orofacial features of lipoid proteinosis, which is very rarely recorded in literature as far as age and oral manifestation are concerned.

Keywords: Acneiform scars, beaded papules, hoarseness, lipoid proteinosis

How to cite this article:
Sadaksharam J, Karthikeyan B, Mahalingam S, Kessavalou S. Lipoid proteinosis with oral manifestation in a geriatric patient: A unique case report. J Indian Acad Oral Med Radiol 2015;27:428-31

How to cite this URL:
Sadaksharam J, Karthikeyan B, Mahalingam S, Kessavalou S. Lipoid proteinosis with oral manifestation in a geriatric patient: A unique case report. J Indian Acad Oral Med Radiol [serial online] 2015 [cited 2020 Jul 12];27:428-31. Available from: http://www.jiaomr.in/text.asp?2015/27/3/428/170492

   Introduction Top

Lipoid proteinosis (LiP) was first reported by Seibman in 1908. [1] In 1929, Urbach and Wiethe described an entity called " lipoidosis cutis et mucosae" on the basis of deposition of a lipid material associated with protein around the blood vessels in the skin and mucus membrane, and this name was then changed to "lipoid proteinosis." [2] LiP is a rare autosomal recessive hereditary disorder, characterized by hoarseness of voice with skin and mucosal changes. Previous studies have attributed the prevalence of LiP to consanguineous parents and infancy. Here, we report a case of LiP in a 61-year-older patient with oral manifestations but without a history of consanguinity. Also, interestingly, the patient was suffering from this manifestation for the past 6 months only, which is a very rare occurrence with respect to age.

   Case Report Top

A 61-year-old male patient was referred to our department for evaluation of stiffness of his tongue, slurred speech, and hoarseness of voice for the past 6 months. Patient developed hoarseness of voice 6 months before, which was followed by slurred speech and dysphagia to solid food insidiously. Before developing these symptoms, he was apparently normal; even during infancy and adulthood, no significant complaints were reported. Family history and personal history was non-contributory. None of the family members were affected and no history of consanguinity was recorded. Patient was otherwise apparently healthy; no significant systemic illness was noted. No history of seizures, visual disturbances, photosensitivity, or respiratory obstruction were reported. Skin of face and neck showed multiple acneiform scars [Figure 1]a and b and beaded papules along the margins of the eyelids [Figure 2]. Intraorally, the tongue was firm, enlarged, crenated, with yellowish white papule on its surface [Figure 3]. The tongue movements were restricted due to infiltration of the yellowish papule in frenulum region. Oral mucosa showed generalized thickening with yellowish papular infiltration. The yellowish papule was widespread throughout the oral mucosa including buccal mucosa and labial mucosa [Figure 4]. No abnormality was noted in the dentition and it was found to be normal for this age. Xerostomia and dysphagia were also found to be present on detailed evaluation. Routine hemogram, renal and liver function tests were normal. Radiographic examination of the skull was found to be unremarkable, with no evidence of calcification noted. Endoscopy was also performed, but no significant abnormality was detected. MRI of brain was taken to rule out any neurological abnormality; no relevant positive findings were noted. Based on the clinical evidence, the case was provisionally diagnosed as LiP and possible differential diagnoses of amyloidosis, xanthoma, porphyria, and myxedema were also given. Incisional biopsy was carried out in the lower labial mucosal region and histopathologic examination showed fibrous tissue with focal areas of hyaline amorphous eosinophilic material deposits [Figure 5]a. Periodic acid-Schiff (PAS) test was positive around the blood vessel [Figure 5]b. These findings confirmed the diagnosis of LiP. Patient was then referred to gastroenterologist for opinion regarding dysphagia and hoarseness of voice. Oral prophylaxis was carried out and the patient was then advised D-pencillamine 600 mg/day for 6 months, which resulted in improvement in oral symptoms. Patient is under regular follow-up; no significant adverse effect has been noticed till date.
Figure 1: Skin of (a) Face and (b) Neck showing multiple acneiform scars

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Figure 2: Picture showing beaded papules along the margins of the eyelids

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Figure 3: Tongue showing enlargement and crenation, with yellowish white papules on its surface

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Figure 4: Labial mucosa of the patient showing yellowish papules on its surface

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Figure 5: (a) H and E stained section showing fi brous tissue with focal areas of hyaline amorphous eosinophilic substance, and (b) Periodic acid-Schiff acid test showing positivity around the blood vessels

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   Discussion Top

LiP, also called as Urbach-Wiethe disease, is characterized by the widespread deposition of hyaline material, particularly in the skin and mucus membranes of the mouth, pharynx, and larynx. This disorder is more prevalent in early infancy with hoarseness of voice, pox-like and acneiform scars. [3] Mutations in gene encoding a glycoprotein, extracellular matrix protein (ECM1), that is expressed in several tissues, are responsible for deposition of hyaline material in dermis and thickening of the skin, mucus and basement membrane around the blood vessels and adnexal epithelia. [4] This glycoprotein is composed of two isoforms, ECM1a and ECM1b, among which ECM1b lacks exon 7 of the 10-exon gene. Exons 6 and 7 are the most common sites for ECM1 mutations in LiP. Normal binding to type IV collagen is also disturbed due to this mutation, resulting in increased type V collagen expression and typical histopathological changes. Mutations in gene encoding ECM1 on chromosome 1q21 have been identified in most cases of LiP reported in literature. [5] The manifestations of LiP are associated with extensive deposition of non-collagenous proteins and glycoproteins in the skin, mucosa, and other organs. The disease is also postulated to be the result of multiple enzymatic defects, similar to lysosomal storage disorders. [6]

Initial manifestation usually appears in infancy as a weak cry and hoarseness of voice. Cutaneous lesions may not occur until 10 years of age, making the diagnosis in children difficult. Skin lesions are more prominent on sun-exposed areas, especially on face and chest. Diffusely thickened facial skin usually has a waxy texture and is covered with widespread infiltrated yellowish flat papules, and plaques with acneiform scars. [7],[8] Beaded papules along the eyelid margins, resembling a string of pearls, termed "moniliform blepharosis," is a pathognomonic sign of this disorder and was observed in our case. [9] Hoarseness of voice, dysphagia, and altered speech are some of the common initial symptoms and LiP should be considered as provisional diagnosis when these symptoms are reported. Oral mucosa is invariably the initial affected site. Due to infiltration of hyaline material in the frenum, restricted tongue movement can occur and infection of airway leads to respiratory distress. [10] Xerostomia is one of the common manifestations caused due to widespread infiltration in the oral mucosa. Areas like palms, axillae, knee, and elbows which are subjected to constant mechanical trauma may develop a hyperkeratotic, verrucous surface. Central nervous system can be involved in the form of calcified spots in the temporal lobes or hippocampus amygdale, which may manifest as seizures. [11] But in our patient, MRI study was normal and no significant abnormalities were detected. Correlation between seizures and intracranial calcifications, which are reported in about 25% of LiP patients, is not established.

LiP must be differentiated from erythropoietic protoporphyria, a condition characterized by skin involvement confined to sun-exposed areas and associated with photosensitivity. Oral manifestation is very rare in this occurrence. Clinical diagnosis is confirmed by histopathological examination. Histologic H and E stained sections show the presence of amorphous, extracellular, and eosinophilic hyaline material. They are PAS positive and diastase resistant. [12] LiP should also be histologically differentiated from amyloidosis and xanthomas, which are also closely associated with the deposition of storage material in the skin and mucosa. [13] Due to rarity of the condition, there are no large case series to evaluate the therapeutic options. Despite many therapeutic trials for LiP, treatment of this condition remains unsatisfactory and mainly aims at reducing morbidity and preventing complications. Medical treatments including d-penicillamine, oral steroids, dimethyl sulfoxide, acitretin, and etretinate have been tried. [14],[15] Among these, d-penicillamine has shown reasonably good results. For our patient, D-penicillamine was used as it has the properties of impairing fibroblast proliferation and cross-linking of collagen. Surgical care involves resection of the vocal cord papules to improve vocal quality. The prognosis of LiP is generally good, although the disease is progressive until early adult life. A dental surgeon is often in the earliest position to diagnose LiP and refer the patient to a specialist, thereby reducing the morbidity of the patient.


The Department of Oral Pathology and Microbiology, Tamil Nadu Government Dental College and Hospital, Chennai is acknowledged.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

   References Top

Kaur V, Singh G. Lipoid proteinosis. Indian J Dermatol Venereol Leprol 1992;58:399-400.  Back to cited text no. 1
  Medknow Journal  
Banerjee S, Jana S, Azad AK, Sinha R, Datta J, Banarjee R, et al. Lipoid proteinosis with vesicular eruptions and hypertrichosis: Rare associations. Indian J Dermatol 2005;50:98-100.  Back to cited text no. 2
  Medknow Journal  
Muda AO, Paradisi M, Angelo C, Mostaccioli S, Atzori F, Puddu P, et al. Lipoid proteinosis: Clinical, histologic, and ultrastructural investigations. Cutis 1995;56:220-4.  Back to cited text no. 3
Shivaswamy KN, Thappa DM, Laxmisha C, Jayanthi S. Lipoid proteinosis in two siblings: A report from South India. Dermatol Online J 2003;9:12.  Back to cited text no. 4
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;11:833-40.  Back to cited text no. 5
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.  Back to cited text no. 6
Bozdað KE, Gül Y, Karaman A. Lipoid proteinosis. Int J Dermatol 2000;39:203-4.  Back to cited text no. 7
Nanda A, Alsaleh QA, Al-Sabah H, Ali AM, Anim JT. Lipoid proteinosis: Report of four siblings and brief review of the literature. Pediatr Dermatol 2001;18:21-6.  Back to cited text no. 8
Suresh KR, Venkat KR, Prem MS, Karthik PP. A rare case report of lipoid proteinosis. International J Recent Trends Sci Techonol 2014;10:275-7.  Back to cited text no. 9
Ravi Prakash SM, Verma S, Sumalatha MN, Chattopadhyay S. Oral manifestations of lipoid proteinosis: A case report and literature review. Saudi Dent J 2013;25:91-4.  Back to cited text no. 10
Newton FH, Rosenberg RN, Lampert PW, O'Brien JS. Neurologic involvement in Urbach-Wiethe's disease (lipoid proteinosis). A clinical, ultrastructural, and chemical study. Neurology 1971; 21:1205-13.  Back to cited text no. 11
Naha K, Shastry AB, Saravu K, Bhatia S. Lipoid proteinosis mimicking congenital immunodeficiency: A case report. Australas Med J 2011;4:155-9.  Back to cited text no. 12
Touart DM, Sau P. Cutaneous deposition diseases. Part I. J Am Acad Dermatol 1998;39:149-74.  Back to cited text no. 13
Kaya TI, Kokturk A, Tursen U, Ikizoglu G, Polat A. D-penicillamine treatment for lipoid proteinosis. Pediatr Dermatol 2002;19:359-62.  Back to cited text no. 14
Wong CK, Lin CS. Remarkable response of lipoid proteinosis to oral dimethyl sulphoxide. Br J Dermatol 1988;119:541-4.  Back to cited text no. 15


  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]


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