Cover Image




A 9 year old male child born of non consanguineous parents presented with complaints of
hoarseness of voice, multiple skin lesions and thickening of eyelid margins. On examination the child
had hoarseness of voice, multiple acneiform(pock like) and atrophic scars over face, trunk, elbows
and knees, beaded papules over the eyelid margins and few hyperkeratotic lesions over trunk,
elbows and knees. The tongue was indurated on palpation. On indirect laryngoscopy vocal cords
were found to be thickened. Histopathological examination of the skin with PAS stain was consistent
with lipoid proteinosis

Full Text:



Hamada T. Lipoid proteinosis. Clin Exp Dermatol 2002;27:624-9.

Acar A, Eryilmaz A, Gocer C, Akmansu H, Korkmaz H. Lipoid proteinosis of larynx: Review of four

cases. Int J Pediatr Otorhinolaryngol 2004;68:1557-61.

Hamada T, McLean WHI, Ramsay M, Ashton GHS, Nanda A, Jenkins T, et al. Lipoid proteinosis

maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM 1). Hum

Mol Genet 2002;11:1557-61.

Urbach E, Wiethe C. Lipoidosis cutis et mucosae. Virchows Arch A Pathol Anat 1929;273:285-319.

Van Hougenhouck-Tulleken W, Chan I, Hamada T, Thornton H, Jenkins T, McLean WH, et al.

Clinical and molecular characterization of lipoid proteinosis in Namaqualand, South Africa. Br J

Dermatol 2004;151:413-23.

Newton JA, Rasbridge S, Temple A, Pope FM, Black MM, McKee P. Lipoid proteinosis: New

immunopathological observations. Clin Exp Dermatol 1991;16:350-4.

Thappa DM, Gupta S. Eyelid beading: A useful diagnostic clue for lipoid proteinosis. Indian Pediatr


Caplan RM. Visceral involvement in lipoid proteinosis. Arch Dermatol 1967;95:149-55.

Harper JI, Filipe MI, Staughton RC. Lipoid proteinosis: Variations in histochemical characteristics.

Clin Exp Dermatol 1983;8:135-41.

Moy LS, Moy RL, Matsuoka LY, Ohta A, Uitto J. Lipoid proteinosis: Ultrastructural and biochemical

studies. J Am Acad Dermatol 1987;16:1193-201.

Wong CK, Lin CS. Remarkable response of lipoid proteinosis to oral dimethylsulphoxide. Br J

Dermatol 1998;119:541-4.

Kaya TI, Kokturk A, Tursen U, Ikizoglu G, Polat A. D-penicillamine treatment for lipoid proteinosis.

Pediatr Dermatol 2002;19:359-62.


  • There are currently no refbacks.

Creative Commons License
This work is licensed under a Creative Commons Attribution-NoDerivatives 4.0 International License.

An initiative of The Tamil Nadu Dr M.G.R. Medical University