|Year : 2017 | Volume
| Issue : 2 | Page : 133-135
Lipoid proteinosis: A case report
Ramakrishnan Bharathi1, Santiago Gnanadeepam1, Nallaiyan Parthiban1, Arunkumar Kamalakaran2
1 Department of Oral Pathology and Microbiology, Tamil Nadu Government Dental College and Hospital, Chennai, Tamil Nadu, India
2 Department of Oral and Maxillofacial Surgery, Tamil Nadu Government Dental College and Hospital, Chennai, Tamil Nadu, India
|Date of Web Publication||13-Jun-2017|
Department of Oral Pathology and Microbiology, Tamil Nadu Government Dental College and Hospital,
Chennai - 600 003, Tamil Nadu
Source of Support: None, Conflict of Interest: None
Lipoid proteinosis is a rare disorder, with only 300 cases reported in the medical literature. It is inherited as an autosomal recessive trait, characterized by the deposition of a hyaline material in the dermis and submucosal connective tissues. Classical clinical symptoms of this disease are skin scarring, beaded eyelid papules, and laryngeal infiltration, leading to hoarseness. In this article, we present a case report of a 61-year-old male patient who reported to our institution with multiple yellowish papules in tongue, hoarseness of voice, and beading of eyelids.
Keywords: Beading of eyelids, hyaline material, lipoid proteinosis, yellowish papules
|How to cite this article:|
Bharathi R, Gnanadeepam S, Parthiban N, Kamalakaran A. Lipoid proteinosis: A case report. J NTR Univ Health Sci 2017;6:133-5
| Introduction|| |
Lipoid proteinosis, also known as Urbach-Wiethe disease and hyalinosis cutis et mucosae, is a rare disorder characterized by the deposition of a hyaline material in the skin, mucous membrane of the upper aerodigestive tract, and different organs of the body, resulting in a multitude of clinical manifestations. Lipoid proteinosis was reported for the first time in 1929 by Urbach, a Viennese dermatologist, and Wiethe, an otolaryngologist. Mutations of the ECM1 gene that encodes a glycoprotein known as extracellular matrix protein 1 is identified as the cause for this condition. Although lipoid proteinosis is most prevalent among the German immigrants to South Africa, it is seen worldwide.
| Case Report|| |
A 61-year-old male patient was referred to our college with a chief complaint of difficulty in swallowing and altered speech for the past 3 months.
Present history revealed he had difficulty in speech and ulcerations in the mouth. He had hoarseness of voice, restricted tongue movement, difficulty in swallowing, and speech impairment. He had no history of seizures, vomiting, and visual disturbances. Memory loss was observed. He is a nonsmoker and nonalcoholic. There was no history of consanguineous marriage. Computed tomography (CT) of his brain revealed normal results.
On intraoral examination, multiple yellowish papules were found to be present bilaterally in buccal mucosa and in both upper and lower labial mucosa. Bilateral buccal mucosa was firm and granular on palpation. His tongue was enlarged and depapillated, giving a bald and shiny appearance. Lateral surface of his tongue showed clear indentations of the dentition, indicating macroglossia. The tongue was firm and woody in consistency, with no fibrotic bands on palpation. Multiple nodules were seen in both the dorsal and ventral surfaces of the tongue [Figure 1]. The lingual frenulum was short and enlarged, causing restricted tongue movements.
The characteristic beaded papules known as “moniliform blepharosis” was present on the upper and lower eyelids of both the eyes [Figure 2]. Systemic examination revealed no abnormalities. Results of the routine blood investigations were normal.
Based on the clinical picture in [Figure 2], a provisional diagnosis of lipoid proteinosis was done. Incisional biopsy from the lower labial mucosa was done and was sent for histopathological examination.
Hematoxylin and eosin (H&E)-stained sections revealed deposition of amorphous eosinophilic substance in lamellar pattern in connective tissues and also surrounding the blood vessels [Figure 3]. The stained hyaline material was eosinophilic and periodic acid-Schiff (PAS) stain positive [Figure 4].
|Figure 3: H&E (10×) section shows amorphous material in the connective tissue|
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|Figure 4: H&E (10×) oral tissue section stained with periodic acid-Schiff reagent shows positive material|
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Histopathology correlated with the clinical diagnosis of lipoid proteinosis.
| Discussion|| |
Lipoid proteinosis is a recessively inherited rare disorder characterized by the deposition of eosinophilic hyaline-like material in the skin and viscera, leading to protean clinical manifestation. The protean manifestation of lipoid proteinosis is are associated with extensive deposits of noncollagenous proteins and glycoprotein in the skin, larynx, and other organs. It displays different clinical manifestations based on the site of involvement and severity of the lesions.
Usually, the first clinical manifestation of lipoid proteinosis is progressive hoarseness of voice caused by diffused deposition of hyaline material in the mucous membrane of the vocal cords. This hoarseness may present at birth as a weak cry or it may develop later, within a few years of life. Our patient had hoarseness of voice but refused laryngoscopy.
Skin lesions are usually absent at birth but tend to develop with growing age. The lesions are present with a wide clinical range varying from tiny yellow papules-plaques to acneform-varioliform scars. Skin lesions are seen as waxy yellow papules with generalized skin thickening on the face, trunk, flexure, and extremities. Acneform scarring usually occurs on the face and the trunk. Sometimes, infiltration of the skin may present as groups of warty plaques on the axillae and elbows. The presence of bead-like papules known as “moniliform blepharosis” on the margins of both the upper and the lower palpebral conjunctivae is a universal sign of this disease. This characteristic feature of this disease was present in the patient. The deposition of hyaline material around the blood vessels resulted in onion skin appearance and in the small bowel, led to intestinal bleeding. Hyaline deposits were also found in the conjunctiva, cornea, trabecula, and retina.
The presence of intraoral, pearly deposits in the mucosa may lead to an enlargement of the tongue, and may make it hard, stiff, and woody. The presence of thickened and infiltrated lingual frenulum may restrict tongue movement during deglutination and speech. Infiltration of the oral mucosa may lead to xerostomia and dysphagia.
Extracutaneous and extramucosal features include neurological signs and symptoms such as epilepsy, memory loss, emotional changes, schizophrenic behavior, and intracranial calcification in the temporal lobe or hippocampus, detected by CT of the brain. Bean-shaped radiopacity is also appreciated in superolateral to the sella turcica on skull radiography. CT of the patient's brain revealed normal results.
By performing a chromosome analysis in 2002, Hamada et al. mapped the disorder to the chromosome 1q21 locus.
Histopathologically, lipoid proteinosis is characterized by the disruption/duplication of the basement membrane; deposition of the hyaline material in the level of basement membrane that results in thickening of the dermoepidermal junction; and deposition of the hyaline material in the papillary dermis surrounding the capillaries and around the adnexal epithelia, especially sweat coils. The hyaline material that is eosinophilic, PAS positive, and diastase-resistant indicated the presence of glycoprotein.
The differential diagnosis of this pathological entity should consider erythropoietic protoporphyria, and it displayed similar skin symptoms but without oral lesions.
Still, there is no effective and specific treatment available for this disorder. Expect respiratory obstruction that requires tracheostomy, The this disease is not life-threatening. Dermabrasion and chemical peeling of the skin of the patient resulted in cosmetic improvement.
Lipoid proteinosis is a rare chronic cutaneous disease that can involve many organs of the body but is benign in nature. The prognosis is generally good. Patients with this disorder usually have normal life expectancy although involvement of the upper respiratory tract may compromise breathing, especially in infancy.
| Conclusion|| |
Our study provides an insight into the characteristic clinical and histopathological features of the rare disorder lipoid proteinosis.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4]