Indian Pediatrics - Editorial

Images in Clinical Practice

Indian Pediatrics 2001; 38: 97

Eyelid Beading - A Useful Diagnostic Clue for Lipoid Proteinosis

A 15-year-old female child born of non-consanguineous parents presented with hoarse-ness of voice and asymptomatic brownish raised lesions over the face and upper limbs of 4 years duration. She was the sixth child in the family, but no other family member had similar disorder or any other genetic disease. On physical examination, she had a waxy, diffuse infiltration and pock-like scarring of the skin with pearly white papules arranged over the eylid margins (Fig. 1) producing the typical "string of beads" appearance (eyelid beading). Acne like lesions over the face and brownish hyperkeratotic papular lesions over the dorsa of hands and arm were other prominent findings. Besides this, there was infiltration of the oral mucosa and larynx with a firm relatively immobile tongue.

Histopathlogical examination of the representative skin (forearm) and oral (labial mucosa) lesion revealed extensive deposits of homogeneous, hyaline like materal in the dermis that reacted strongly with the Periodic Acid-Schiff’s stain. On the basis of above clinical and histopathlogical findings, a diag-nosis of lipoid proteinosis was made.

Lipoid proteinosis is a rare, recessively inherited disorder, characterized by infiltration of the skin, oral cavity and larynx. Patients with this genodermatosis can usually be recognized instantly because of husky voice, inability to protrude tongue and thickened eyelids. The last sign, so called "moniliform blepharosis" is a particularly useful clue for the diagnosis of lipoid proteinosis. It results from involvement of the eyelid margins with tiny papules, which produces the typical "string of beads" appearance.

Devinder Mohan Thappa,
Shally Gupta,
Department of Dermatology and STD,
Jawaharlal Institute of Postgraduate
Medical Education and Research (JIPMER),
Pondicerry 605 006, India.

Fig. 1. Photograph showing multiple lesions.