Moniliform Blepharosis – A Case Report

1. Moniliform Blepharosis – A Case Report ^ Dr. Suraj Bhagde Sadguru Netra Chikitsalaya, Chitrakoot.

2. Introduction Lipoid proteinosis(LiP) is also known as “Hyalinosis cutis et mucosae” or “Urbach-Wiethe disease”. It is a rare autosomal recessive genodermatosischaracterized by the deposition of an amorphous hyaline material in the skin, mucosa, and viscera. LiP has been mapped to Chromosome 1q21 and the cause has been attributed to loss-of-function mutations in the gene encoding extracellular matrix protein 1 (ECM1) on band 1q21. Just over 300 cases have been reported worldwide so far. .

3. The Case Report D.G., 19 yrs Male, born of non-consanguinous marriage. Complaints - small nodular swellings on the lid margins of both eyes with occasional itching of eyes. Mis-diagnosed outside with Blepharitis in both eyes and was treated with Chloramphenicol ointment and lid scrub with Johnson's baby shampoo since past two months .

4. Relevant History Past History – Hoarseness of voice since infancy. Skin affection since past 8 years. History of scaling of skin on palmar surface earlier. Took oral medications few years back for a month but found no relief and left the treatment. Family History - Similar affection in father (45 years) and younger brother (15 years); younger sister (18 years) has a mild affection.

5. Clinical Presentation OD OS On Ophthalmic examination – Skin of the eyelids was normal. At the base of the eyelashes, there were beaded papules which looked like “A Row Of Pearls On A String” also called as “MoniliformBlepharosis”.

6. Clinical Presentation Normal Meibomian openings No lid edema No ulceration at the lid margins. No scales on the eyelashes. Rest of the anterior segment - normal

7. Clinical Presentation On Systemic Examination: Swelling and ulceration of the lips and tongue. Not able to fully protrude the tongue outside. Skin - presence of hyperkeratotic Verrucous plaques on extensor surfaces like elbows, shins, back, shoulders and knuckles of hands. The flexor surfaces such as chest, abdomen and inner aspects of the limbs were spared.

8. Treatment • He was treated symptomatically with Azelastine and • Lubricant (CMC – 0.5%) eyedrops. • No specific treatment for Lipoid Proteinosis or • MoniliformBlepharosis was instituted. • He was referred to a dermatologist.

9. Discussion • Presentation : Typically in early childhood, but sometimes at birth or in adults. • Clinical Features : • A weak or hoarse cry from birth or starting in early infancy. • Cutaneous manifestations start in first 2 years of life. They include - initially, an inflammatory, vesicular, and crusted eruption on face and extremities which transform to diffuse, waxy, thickened appearance. Verrucous papules and plaques then arise on elbows, knees, and hands. • Moniliform Blepharosis is pathognomonic. • Children may have seizures, behavioral changes, • learning difficulties, and rage attacks resulting from • characteristic temporal lobe calcifications.

10. Investigations Lab : ESR may be elevated. PCR and direct nucleotide sequencing of the ECM1 gene can confirm the diagnosis. Radioimagingshows pathognomonicbilateral, intracranial, bean-shaped calcification within the hippocampal region of the temporal lobes. Skin biopsy of affected cutaneous or mucosal sites confirms the diagnosis.

11. Treatment • Treatment : • No cure is known. The disease follows a stable, chronic course but may fluctuate in intensity. • No uniformly successful treatment is available though following drugs may be helpful - D-penicillamine, oral dimethylsulfoxide (DMSO), potent topical corticosteroids, Etretinate. • Surgical resection of vocal cord papules and Carbon dioxide laser ablation has been used to treat vocal cord lesions. • Dermabrasion may improve the appearance of skin lesions

12. References Thanks • Kumar J, Ramesh V, Beena KR, Misra RS, Mukherjee A. Case 1: lipoid proteinosis (hyalinosis cutis et • mucosae; Urbach-Wiethe disease). Clin Exp Dermatol. Sep 2002;27(6):531-2 • Galadari I, Al-Kuwaiti R. Lipoid proteinosis: a case report. Int J Dermatol. May 2004;43(5):368-70 • Hofer PA. Urbach-Wiethe disease (lipoglycoproteinosis; lipoid proteinosis; hyalinosis cutis et • mucosae). A review. ActaDermVenereolSuppl (Stockh). 1973;53:1-52 • Holme SA, Lenane P, Krafchik BR. What syndrome is this? Urbach-Weithe syndrome (Lipoid • proteinosis). PediatrDermatol. May-Jun 2005;22(3):266-7. Dr. Suraj Bhagde Consultant, Children Eye Care Centre Sadguru Netra Chikitsalaya, Chitrakoot. suraj.bhagde@rediffmail.com 9589105059