Lipoid proteinosis in siblings

Introduction

Lipoid proteinosis (Hyalinosis cutis et mucosae) also known as Urbach-Weithe disease is a very rare, recessively inherited disorder characterized by infiltration of hyaline material into the skin, oral cavity, larynx & internal organs.[1] It may represent a lysosomal storage disease due to single or multiple enzyme defects & may involve a primary perturbation of collagen metabolism.[1] The disease develops early in life with marked scarring from mild skin inflammation & injury. Hoarseness develops in infancy & becomes prominent within first few years of life. The mucosae of the pharynx, tongue, lips, soft palate, tonsils, uvula soon develops extensive irregular infiltrates. Dental abnormalities, intracranial calcification, epilepsy can also be associated with this disease.[1]

Case Report

A brother and a sister of ages 20 years and 18 years respectively presented with multiple depressed scars of various sizes and shapes on face, trunk, extremities and hoarsencess of voice since early childhood. On examination besides these scars, hyperpigmented verrucous plaques were present over elbows, knees, and sites of friction and movement. The lips were thick, dry, infiltrated and showed scaling, erosions and fissures. The oral mucous membrane on palpation was tense in texture and infiltrated. There was partial anadontitia with hypoplasia of some of the teeth. Laryngoscopy revealed pale mucosa of throat, granular pharyngeal walls, hypertrophic tonsils and hypertophic vocal cords with normal & equal movements. A very characteristic ring of beaded papules was present on both the upper eyelids which has clicked this rare diagnosis.

Other systemic examinations and x-ray skull were normal. The histopathology revealed deposition of PAS-positive, hyaline material in dermis. The material was also present at perivascular and periadnexal sites.

Both the parents were normal and had consanguineous marriage.

Discussion

Hoarseness in infancy and beaded papules along eyelid margins like in this case are strong pointer towards lipoid proteinosis. However in early stages in absence of these lesions the inflammatory lesions leaving scars on face may pose difficulty in differentiating this from erythropoietic protoporphyria.[1] Absence of photosensitivity, presence of lesions on covered parts and HPE will be helpful at this stage. In adult stage Lichen myxoedematous and myxedema should be considered.[1]

There os no specific treatment of lipoid proteinosis but the disease is stable after puberty and compatible with normal life. Treatment with dimethylsufoxide, etretinate, dermabrasion, chemical peeling and dissection of vocal cords has been carried out with variable results.[1]

Lipoid proteinosis has been reported by Indian authors but that in siblings probably has not been reported.[2],[3],[4],[5],[6],[7],[8]