Javeria Javeria, Sami ullah, Marium Marium, Neelo far, Fatima Samad, Ghulam Nabi, Saadia Ghazal


Background: Urbache-Wiethe disease (Lipoid Proteinosis) is a rare autosomal recessive disorder
characterized by the deposition of an eosinophilic hyaline-like material in the skin, larynx, mucous
membranes, brain, and other internal organs. Methods: A survey of one year duration was carried
out prospectively at the Department of Dermatology, Ayub Teaching Hospital Abbottabad to
document cases of lipoid proteinosis. Cases were selected from the outpatients department on the
basis of clinical presentation and were subjected to detailed examination and investigations after
admission. Results: Five cases were diagnosed as suffering from Lipoid Proteinosis over the study
period. All had typical features of hoarseness, skin lesions and tongue involvement. All were born
of consanguineous parents. Three (60.0%) cases also gave a history of involvement of other family
members, particularly cousins. Conclusion: This rare disease occurs in Hazara Division of North
West Frontier Province of Pakistan with an as yet undetermined frequency and clinical suspicion
is warranted to diagnose cases with the typical presentation.
Key Words: Lipoid proteinosis, Urbach-Wiethe disease, Hyalinosis cutis et mucosae, Hoarseness


Urbach E, Wiethe C. Lipoidosis cutis et mucosae. Virchows

Arch A Pathol Pathol Anat 1929;273:285–319.

Dinakaran S, Desai SP, Palmer IR, Parsons MA. Lipoid

proteinosis: clinical features and electron microscopic study.

Eye 2001;15:666–8.

Hofer P. Urbach Wiethe disease (lipoglycoproteinosis; lipoid

proteinosis; hyalinosis cutis et mucosae). A review. Acta

Derm Venereol (Suppl) (Stockh) 1973;53:1–52.

Friedman L, Mathews RD, Swanepoel PD. Radiographic and

computed tomographic findings in lipid proteinosis. A case

report. S Afr Med J 1984;65:734–5.

Kleinert R, Cervos-Navarro J, Kleinert G, Walter GF, Steiner

H. Predominantlycerebral manifestation in Urbach–Wiethe’s

syndrome (lipoid proteinosis cutis et mucosae): a clinical and

pathomorphological study. Clin. Neuropathol 1987;6:43–5.

Hamada T. Lipoid proteinosis. Clin Exp Dermatol


Sethuraman G, Tejasvi T, Khaitan BK, Handa KK, Rao S,

Singh MK et al. Lipoid Proteinosis in two siblings: A report

from India. J Dermatol 2003;30:562–5.

Black MM. Lipoid Proteinosis; Metabolic and nutritional

disorders. In: Champion RH, Burton JL, Burns DA.

Breathnach SM, eds. Rook/Wilkinson/Ebling Textbook of

Dermatology, 6th edition, Oxford: Blackwell Science, 1998;p.


Ramsey ML, Tschen JA, Wolf JE. Lipoid proteinosis. Int J

Dermatol 1985;24:230–2.

Moy LS, Moy RL, Matsuoka LY, Ohta A, Uitto J. Lipoid

proteinosis: Ultrastructural and biochemical studies. J Am

Acad Dermatol 1987;16:1193–1201.

Newton JA, Rasbridge S, Temple A, Pope FM, Black MM,

McKee P. Lipoid proteinosis-new immunopathological

observations. Clin Exp Dermatol 1991;16:350–4.

Touart DM, Sau P. Cutaneous deposition diseases. (Part 1). J

Am Acad Dermatol 1998;39:149–71.

Aroni K, Lazaris AC, Papadimitriou K, Paraskevakou

H, Davaris PS. Lipoid proteinosis of the oral mucosa: case

report and review of literature. Pathol Res Pract


Wong CK, Lin CS. Remarkable response to oral dimethyl

sulphoxide. Br J Dermatol 1998;119:541–4.

Bozdag KE, Gul Y, Karaman A. Lipoid proteinosis. Int J

Dermatol 2000;39:203–4.


  • There are currently no refbacks.

Contact Number: +92-992-382571

email: [jamc] [@] [ayubmed.edu.pk]