Lipoid proteinosis in two Indian brothers - a case report from South Bengal

Authors

  • K Shome
  • I Das
  • A Saha
  • N Jain
  • J Seth
  • Dr. Rajesh

DOI:

https://doi.org/10.66344/jpad.24.1.2014.181

Keywords:

Lipoid proteinosis, hyalinosis cutis, calcification

Abstract

Lipoid proteinosis is a rare autosomal recessive disorder with variable phenotype, caused by defect in extracellular matrix protein-1 and is characterized by deposition of periodic acid-Schiff-positive, diastase resistant material in skin, mucous membrane and internal organs. There are only few reports regarding lipoid proteinosis in literature and in this part of the world. Here, we report a case of lipoid proteinosis in a 29-year-old male with positive family history and widespread distribution involving skin and internal organs. Histopathological finding was consistent with clinical diagnosis of lipoid proteinosis. 

References

Navarro C, Fachal C, Rodríguez C et al. Lipoid proteinosis. A biochemical and ultrastructural investigation of two new cases. Br J Dermatol. 1999;141:326-31.

Sarkany RPE, Breathnach SM, Seymour CA. Metabolic and nutritional disorders. In: Burns T, Breathnach S ,Cox N, Griffiths CH. Rook’s Textbook of Dermatology, Vol. 3, 7th edn. Oxford: Blackwell Science; 2004. P.56-57.

Rosenthal AR, Duke JR. Lipoid proteinosis: case report of direct lineal transmission. Am J Ophthalmol 1967;64:1120-5.

Dyer JA. Lipoid proteinosis. In: Wolff K, Goldsmith LA, Katz SI et al., editors. Fitzpatrick's Dermatology in General Medicine, Vol. 2, 7th edn. New York: McGraw-Hill; 2008. P.1288-92.

Bozdağ KE, Gül Y, Karaman A. Lipoid proteinosis. Int J Dermatol. 2000;39:203-4.

Grosfild JCM, Spaas J, vande Staak WJBM, Stadhouders AM. Hyalinosis cutis et mucosae. Dermatologia. 1965;130:239-66.

Bansal NK, Mathur GK. Lipoid proteinosis. Indian J Dermatol Venereol Leprol. 1982;48:209-12.

Bagale RT. Lipoid proteinosis. Indian J Dermatol Venereol Leprol. 1982;48:295-97.

Kumar AS, Seetharam KA, Singh MK, Vasvani N. Lipoid proteinosis. Indian J Dermatol Venereol Leprol. 1986;52:95-8.

Hamada T, McLean WH, Ramsay M et al. Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Hum Mol Genet. 2002;11:833-40.

Hamada T, Wessagowit V, South AP et al. Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation. J Invest Dermatol. 2003;120:345-50.

Staut CCV, Naidich TP. Urbach-Weithe disease (lipoid proteinosis). Pediatr Neurosurg. 1998;28:212-4.

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

François J, Bacskulin J. Manifestations oculaires du syndrome d’Urbach Wiethe. Opthalmologica. 1968;155:433-8.

Farolan MJ, Ronan SG, Solomon LM, Loeff DS. Lipoid proteinosis: case report. Pediatr Dermatol. 1992;9:264-7.

Singh G, Misra D. Lipoid proteinosis. Int J Dermatol. 1988;27:344-5.

Cinaz P, Gúvenir T, Gólúnsen G. Lipoid proteinosis: Urbach-Wiethe disease. Acta Paediatr. 1993;82:892-3.

Arnold HL, Odom RB, James WD, editors. Andrews’ Diseases of the Skin, 8th edn. Philadelphia: WB Saunders; 1990.

Muda AO, Paradisi M, Angelo C et al. Lipoid proteinosis: clinical, histologic and ultrastructural investigations. Cutis. 1995;56:220-4.

Harper JI, Filipe MI, Staughton RCD. Lipoid proteinosis: Variations in histochemical characteristics. Clin Exp Dermatol. 1983;8:135-41.

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Published

2016-11-29

How to Cite

1.
Shome K, Das I, Saha A, Jain N, Seth J, Rajesh D. Lipoid proteinosis in two Indian brothers - a case report from South Bengal. J Pak Assoc Dermatol [Internet]. 2016Nov.29 [cited 2026Apr.12];24(1):89-92. Available from: https://www.jpad.com.pk/index.php/jpad/article/view/181

Issue

Vol. 24 No. 1 (2014): January - March

Section

Case Reports

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