A CASE OF LIPOID PROTEINOSIS – URBACH WIETHE DISEASE

Dr. Rama Lakshmi Thullimalli, Dr. Kanikalla Nagarjuna, Dr. K. Hema

Abstract


A 52-year-old normotensive and non-diabetic female presented with complaint of change in voice, beading papules, vesicles and bullae on bilateral eyelids, whitish discolouration of skin and mucus membrane of upper lip and difficulty in chewing and decreased tongue movements for 2 months. Skin biopsy revealed LIPOID PROTEINOSIS. Life span is normal unless altered by laryngeal obstruction. Few may require permanent tracheostomy.


Keywords


Lipoid proteinosis, multi-system involvement.

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References


Hamada T, McLean WHI, Ramsay M, Ashton GHS, Nanda A, et al. 2002. Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Human Molecular Genetics 11:833–40

Appenzeller, S; Chaloult, E; Velho, P; De Souza, E. M.; Araújo, V. Z.; Cendes, F; Li, L. M. (2006). "Amygdalae Calcifications Associated with Disease Duration in Lipoid Proteinosis". Journal of Neuroimaging. 16 (2): 154–156.

DiGiandomenico S, Masi R, Cassandrini D, El-Hachem M, DeVito R, Bruno C, Santorelli FM. 2006. Lipoid proteinosis: case report and review of the literature. Acta Otorhinolaryngol Ital 26:162–7


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