Indian Journal of Pathology and Microbiology

: 2012  |  Volume : 55  |  Issue : 3  |  Page : 415--416

Lipoid proteinosis: A rare clinical entity

Goyal Puja, Mukherjee Bipasha 
 Department of Orbit, Oculoplasty, Reconstructive and Aesthetics, Sankara Nethralaya, Medical Research Foundation, 18, College Road, Chennai 6, India

Correspondence Address:
Goyal Puja
Department of Orbit, Oculoplasty, Reconstructive and Aesthetic Services, Sankara Nethralaya, Medical Research Foundation, 18, College Road, Nungambakkam,Chennai- 600006

How to cite this article:
Puja G, Bipasha M. Lipoid proteinosis: A rare clinical entity.Indian J Pathol Microbiol 2012;55:415-416

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Puja G, Bipasha M. Lipoid proteinosis: A rare clinical entity. Indian J Pathol Microbiol [serial online] 2012 [cited 2021 May 14 ];55:415-416
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Lipoid proteinosis (LP) is a rare autosomal recessive disorder, characterized clinically by a myriad of multisystemic signs and symptoms and histologically by infiltration of periodic acid Schiff-positive (PAS) hyaline material into the skin and internal organs. [1]

We present a case of 54 year old man who was incidentally diagnosed as LP based on ocular features.

A 54 year old male reported with complaints of diminution of vision in both eyes since last three months. On examination the best corrected visual acuity in both eyes was 20/40, J1. He was noted to have a row of multiple beaded papules at the eyelid margin in all four lids [[Figure 1]a and b]. They resembled a string of pearls and were painless, non-progressive and non-inflammatory. The lesions had been present since 10 years of age.{Figure 1}

Anterior segment examination revealed nuclear sclerosis. Posterior segment examination was normal. He had a woody tongue with fissures [Figure 2] and limited tongue movements and revealed hoarse voice since childhood. He had no history of frontal headache, seizures or breathing difficulty.{Figure 2}

The patient underwent incisional biopsy of the eyelid lesions under topical anaesthesia. Histopathology showed deposition of amorphous material in the stroma and around blood vessels [Figure 3]. The material stained positive for PAS and was negative for Congo red, indicating the presence of glycoprotein. The lid epithelium was normal. Histopathology of the eyelid lesions was consistent with LP. Computed tomography (CT) scan of the brain did not reveal any abnormality. The patient underwent uneventful cataract surgery in both eyes for his primary complaints.{Figure 3}

LP, also known as Urbach-Wiethe disease, is a rare autosomal recessive disorder. It is a multi-system disease with loss-of-function mutations in the gene encoding extracellular matrix protein 1 (ECM1) on chromosome 1q21 in several organs. [2]

The condition commonly involves the upper airway and digestive tract. It presents in early childhood with hoarseness of voice, patchy loss of hair, recurrent parotitis, skin infiltration and thickening, beaded papules on the eyelid margin, and acne form scars. Intracranial calcification in the temporal lobes or hippocampus is pathognomonic of central nervous system involvement. [3]

Predominant dermatological and speech related complaints result in the patient presenting to either a dermatologist or an otolaryngologist. The primary concern of our patient was diminution of vision due to cataracts in both eyes. Evaluation of ocular adnexa and proper history coupled with histopathological evidence confirmed the diagnosis in our case.

An additional biopsy of non-eyelid skin was not obtained from our patient since biopsy of the eyelid lesions showed deposition of amorphous PAS positive material in the stroma and around blood vessels, corroborating the diagnosis of LP.

LP runs a benign course and is rarely a life-threatening condition. [4] Acute respiratory distress and seizures may require emergency management. LP is a very rare condition. Although primary presentation to an ophthalmologist is exceedingly uncommon, the present case illustrates that comprehensive ophthalmological examination may facilitate the diagnosis of rare diseases such as LP. Awareness of the systemic manifestations of this condition is required for appropriate patient management.


Dr. J. Biswas & Dr. S.Krishnakumar, Dept of Ocular Pathology, Medical Research Foundation Chennai. Organisation Department of Orbit, Oculoplasty, Reconstructive and Aesthetics, Sankara Nethralaya A unit of Medical Research Foundation Chennai 6, India


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