Skip to main content
SpringerLink
Log in

Lipoid proteinosis

  • Chapter
Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes

Abstract

The autosomal recessive disorder lipoid proteinosis (LiP; OMIM # 247100) is a rare genodermatosis that presents in early infancy with hoarseness, followed by pox-like and acneiform scars, along with infiltration and thickening of the skin and certain mucous membranes. The disorder is characterized by deposits of amorphous hyaline-like material in the skin and mucous membranes. Neurologic and psychiatric abnormalities such as epilepsy, sometimes in association with calcification with intracranial calcification, may also occur.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 269.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 349.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 499.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  • Aroni K, Lazaris AC, Papadimitriou K, Paraskevakou H, Davaris PS (1998) Lipoid proteinosis of the oral mucosa: case report and review of the literature. Pathol Res Pract 194: 855–859.

    PubMed  CAS  Google Scholar 

  • Barthelemy H, Mauduir G, Kanitakis J, Cambazard E, Thivolet J (1986) Lipoid proteinosis with pseudomembranous conjunctivitis. J Am Acad Dermatol 14: 367–371.

    Article  PubMed  CAS  Google Scholar 

  • Bauer EA, Santa-Cruz D, Eisen AZ (1981) Lipoid proteinosis: in vivo and in vitro evidence for a lysosomal storage disease. J Invest Dermatol 76: 119–125.

    Article  PubMed  CAS  Google Scholar 

  • Bhalerao J, Tylzanowski P, Filie JD, Kozak CA, Merregaert J (1995) Molecular cloning, characterization and genetic mapping of the cDNA coding for a novel secretory protein of mouse. Demonstration of alternative splicing in skin and cartilage. J Biol Chem 270: 16385–16394.

    Article  PubMed  CAS  Google Scholar 

  • Chan I (2004) The role of extracellular matrix protein 1 in human skin. Clin Exp Dermatol 29: 52–56.

    Article  PubMed  CAS  Google Scholar 

  • Chan I, El-Zurghany A, Zendah B, Benghazil M, Oyama N, Hamada T, McGrath JA (2003) Molecular basis of lipoid proteinosis in a Libyan family. Clin Exp Dermatol 28: 545–548.

    Article  PubMed  CAS  Google Scholar 

  • Chan I, Sethuraman G, Sharma VK, Bruning E, Hamada T, McGrath JA (2004a) Molecular basis of lipoid proteinosis in two indian siblings. J Dermatol 31: 764–766.

    PubMed  CAS  Google Scholar 

  • Chan I, Oyama N, South AP, McGrath JA, Oyama N, Bhogal BS, Black MM, Hamada T (2004b) Rapid diagnosis of lipoid proteinosis using an anti-extracellular matrix protein 1 (ECM1) antibody. J Dermatol Sci 35: 151–153.

    Article  PubMed  CAS  Google Scholar 

  • Chan I, Oyama N, Neill SM, Wojnarowska F, Black MM, McGrath JA (2004c) Characterization of IgG autoantibodies to extracellular matrix protein 1 (ECM1) in lichen sclerosus. Clin Exp Dermatol 29: 499–504.

    Article  PubMed  CAS  Google Scholar 

  • Chan I, Liu L, Hamada T, Sethuraman G, McGrath JA (2007) The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1. Exp Dermatol 16: 881–890.

    Article  PubMed  CAS  Google Scholar 

  • Deckers MM, Smits P, Karperien M, Ni J, Tylzanowski P, Feng P, Parmelee D, Zhang J, Bouffard E, Gentz R, Lowik CW, Merregaert J (2001) Recombinant human extracellular matrix protein 1 inhibits alkaline phosphatase activity and mineralization of mouse embryonic metatarsals in vitro. Bone 28: 14–20.

    Article  PubMed  CAS  Google Scholar 

  • Disdier P, Harle JR, Andrac L, Swiader L, Weiller PJ (1994) Specific xerostomia during Urbach-Wiethe disease. Dermatology 188: 50–51.

    PubMed  CAS  Google Scholar 

  • Findlay G, Scott FP, Cripps DJ (1966) Porphyria and lipid proteinosis. Br J Dermatol 78: 69–80.

    Article  PubMed  CAS  Google Scholar 

  • Friedman L, Mathews RD, Swanepoel PD (1984) Radiographic and computed tomographic findings in lipid proteinosis. A case report. S Afr Med J 65: 734–735.

    PubMed  CAS  Google Scholar 

  • Gordon H, Gordon W, Botha V Edelstein I (1971) Lipoid proteinosis. Birth Defects Orig Artic Ser 7: 164–177.

    PubMed  CAS  Google Scholar 

  • Hamada T (2002) Lipoid proteinosis. Clin Exp Dermatol 27: 624–629.

    Article  PubMed  CAS  Google Scholar 

  • Hamada T, McLean WHI, Ramsay M, Ashton GHS, Nanda A, Jenkins T, Edelstein I, South AP, Bleck O, Wessagowit V, Mallipeddi R, Orchard GE, Wan H, Dopping-Hepenstal PJC, Mellerio JE, Whittock NV, Munro CS, van Steensel MAM, Steijlen PM, Ni J, Zhang L, Hashimoto T, Eady RAJ McGrath JA (2002) Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1). Hum Mol Genet 11: 833–840.

    Article  PubMed  CAS  Google Scholar 

  • Hamada T, Wessagowit V, South AP, Ashton GH, Chan I, Oyama N, Siriwattana A, Jewhasuchin P, Charuwichitratana S, Thappa DM, Jeevankumar B, Lenane P, Krafchik B, Kulthanan K, Shimizu H, Kaya TI, Erdal ME, Paradisi M, Paller AS, Seishima M, Hashimoto T, McGrath JA (2003) Extracellular matrix protein 1 gene (ECM1) Mutations in lipoid proteinosis and genotype-phenotype correlation. J Invest Dermatol 120: 345–350.

    Article  PubMed  CAS  Google Scholar 

  • Han Z, Ni J, Smits P, Underhill CB, Xie B, Chen Y, Liu N, Tylzanowski P, Parmelee D, Feng P, Ding I, Gao F, Gentz R, Huylebroeck D, Merregaert J, Zhang L (2001) Extracellular matrix protein 1 (ECM1) has angiogenic properties and is expressed by breast tumor cells. FASEB J 15: 988–994.

    Article  PubMed  CAS  Google Scholar 

  • Haneke E, Hornstein OP, Meisel-Stosiek M, Steiner W (1984) Hyalinosis cutis et mucosae in siblings. Hum Genet 68: 342–345.

    Article  PubMed  CAS  Google Scholar 

  • Heyl T (1971) Lipoid proteinosis in South Africa. Dermatologica 142: 129–132.

    Article  PubMed  CAS  Google Scholar 

  • Hofer P (1973) Urbach-Wiethe disease (lipoglycoproteinosis; lipoid proteinosis; hyalinosis cutis et mucosae). A review. Acta Derm Suppl (Stockh) 53: 1–52.

    CAS  Google Scholar 

  • Johnson MR, Wilkin DJ, Vos HL, Ortiz de Luna RI, Dehejia AM, Polymeropoulos MH, Francomano CA (1997) Characterization of the human extracellular matrix protein 1 gene on chromosome 1q21. Matrix Biol 16: 289–292.

    Article  PubMed  CAS  Google Scholar 

  • Kleinert R, Cervos-Navarro J, Kleinert G, Walter GF, Steiner H (1987) Predominantly cerebral manifestation in Urbach-Wiethe’s syndrome (lipoid proteinosis cutis et mucosae): a clinical and pathomorphological study. Clin Neuropathol 6: 43–45.

    PubMed  CAS  Google Scholar 

  • Lachman RS (1996) Lipoid proteinosis. In:Taybi H, Lachman RS (eds.) Radiology of syndromes, metabolic disorders, and skeletal dysplasias. 4th ed. St-Louis: Mosby, pp. 650–651.

    Google Scholar 

  • Mongiat M, Fu J, Oldershaw R, Greenhalgh R, Gown AM, Iozzo RV (2003) Perlecan protein core interacts with extracellular matrix protein 1 (ECM1), a glycoprotein involved in bone formation and angiogenesis. J Biol Chem 278: 17491–17499.

    Article  PubMed  CAS  Google Scholar 

  • Moy LS, Moy RL, Matsuoka LY Ohta A, Uitto J (1987) Lipoid proteinosis: ultrastructural and biochemical studies. J Am Acad Dermatol 16: 1193–1201.

    Article  PubMed  CAS  Google Scholar 

  • Muda AO, Paradisi M, Angelo C, Mostaccioli S, Atzori F, Puddu P, Faraggiana T (1995) Lipoid proteinosis: clinical, histologic, and ultrastructural investigations. Cutis 56: 220–224.

    PubMed  CAS  Google Scholar 

  • Nanda A, Alsaleh QA, Al-Sabah H, Ali AM, Anim JT (2001) Lipoid proteinosis: report of four siblings and brief review of the literature. Pediatr Dermatol 18: 21–26.

    Article  PubMed  CAS  Google Scholar 

  • Navarro C, Fachal C, Rodriguez C, Padro L, Dominguez C (1999) Lipoid proteinosis. A biochemical and ultrastructural investigation of two new cases. Br J Dermatol 141: 326–331.

    Article  PubMed  CAS  Google Scholar 

  • Newsome D (2004) Lipoid proteinosis. In: Roach ES, Miller VS (eds.) Neurocutaneous disorders. New York: Cambridge University Press, pp. 318–322.

    Google Scholar 

  • Olsen DR, Chu ML, Uitto J (1998) Expression of basement membrane zone genes coding for type IV procollagen and laminin by human skin fibroblasts in vitro: elevated alpha 1 (IV) collagen mRNA levels in lipoid proteinosis. J Invest Dermatol 90: 734–738.

    Article  Google Scholar 

  • Oyama N, Chan I, Neill SM, Hamada T, South AP, Wessagowit V, Wojnarowska F, D’Cruz D, Hughes GJ, Black MM, McGrath JA (2003) Autoantibodies to extracellular matrix protein 1 in lichen sclerosus. Lancet 362: 118–123.

    Article  PubMed  CAS  Google Scholar 

  • Oyama N, Chan I, Neill SM, South AP, Wojnarowska F, Kawakami Y, D’Cruz D, Mepani K, Hughes GJ, Bhogal BS, Kaneko F, Black MM, McGrath JA (2004) Development of antigen-specific ELISA for circulating autoantibodies to extracellular matrix protein 1 in lichen sclerosus. J Clin Invest 113: 1550–1559.

    PubMed  CAS  Google Scholar 

  • Parker JM (1980) Erythropoietic protoporphyria. Cutis 26: 247–250.

    PubMed  CAS  Google Scholar 

  • Ramsey ML, Tschen JA, Wolf JE Jr (1985) Lipoid proteinosis. Int J Dermatol 24: 230–232.

    Article  PubMed  CAS  Google Scholar 

  • Rosenthal G, Lifshits T, Monos T (1997) Carbon dioxide laser treatment for lipoid proteinosis (Urbach-Wiethe syndrome) involving the eyelids. Br J Ophthalmol 81: 252–254.

    Article  Google Scholar 

  • Smits P, Ni J, Feng P, Wauters J, Van Hul W, Boutaibi ME, Dillon PJ, Merregaert J (1997) The human extracellular matrix gene 1 (ECM1): genomic structure, cDNA cloning, expression pattern and chromosomal localization. Genomics 45: 487–495.

    Article  PubMed  CAS  Google Scholar 

  • Smits P, Poumay Y, Karperien M, Tylzanowski P, Wauters J, Huylebroeck D, Ponec M, Merregaert J (2000) Differentiation-dependent alternative splicing and expression of the extracellular matrix protein 1 gene in human keratinocytes. J Invest Dermatol 114: 718–724.

    Article  PubMed  CAS  Google Scholar 

  • Staut CCV, Naidich TP (1998) Urbach-Wiethe disease (lipoid proteinosis). Pediatr Neurosurg 28: 212–214.

    Article  PubMed  CAS  Google Scholar 

  • Stine OC, Smith KD (1990) The estimation of selection coefficients in Afrikaaners: Huntington disease, porphyria variegata, and lipoid proteinosis. Am J Hum Genet 46: 452–458.

    PubMed  CAS  Google Scholar 

  • Teive HA, Pereira ER, Zavala JA, Lange MC, de Paola L, Raskin S, Werneck LC, Hamada T, McGrath JA (2004) Generalized dystonia and striatal calcifications with lipoid proteinosis. Neurology 63: 2168–2169.

    PubMed  CAS  Google Scholar 

  • Thornton HB, Nel D, Thornton D, van Honk J, Baker GA, Stein DJ (2008) The neuropsychiatry and neuropsychology of lipoid proteinosis. J Neuropsychiatry Clin Neurosci 20: 86–92.

    PubMed  Google Scholar 

  • Touart DM, Sau P (1998) Cutaneous deposition diseases. Part I. J Am Acad Dermatol 39: 149–171.

    Article  CAS  Google Scholar 

  • Urbach E, Wiethe C (1929) Lipoidosis cutis et mucosae. Virchows Arch Path Anat 273: 285–319.

    Article  Google Scholar 

  • Van Hougenhouck-Tulleken W, Chan I, Hamada T, Thornton H, Jenkins T, McLean WH, McGrath JA, Ramsay M (2004) Clinical and molecular characterization of lipoid proteinosis in Namaqualand, South Africa. Br J Dermatol 151: 413–423.

    Article  PubMed  CAS  Google Scholar 

  • Who named it? (2006) A medical biography dictionary. http://www.whonamedit.com

    Google Scholar 

  • Wong CK, Lin CS (1988) Remarkable response of lipoid proteinosis to oral dimethyl sulphoxide. Br J Dermatol 119: 541–544.

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Dermatology, Kurume University School of Medicine, Asahimachi, Kurume, Fukuoka, Japan

    Takahiro Hamada

Authors
  1. Takahiro Hamada
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Institute of Neurological Science, National Research Council, Catania, Italy

    Martino Ruggieri

  2. University Hospital La Paz, Madrid, Spain

    Ignacio Pascual-Castroviejo

  3. Institute of Neurosurgery, Catholic University of the Sacred Heart, Rome, Italy

    Concezio Di Rocco

Rights and permissions

Reprints and permissions

Copyright information

© 2008 Springer-Verlag/Wien

About this chapter

Cite this chapter

Hamada, T. (2008). Lipoid proteinosis. In: Ruggieri, M., Pascual-Castroviejo, I., Di Rocco, C. (eds) Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes. Springer, Vienna. https://doi.org/10.1007/978-3-211-69500-5_57

Download citation

  • DOI: https://doi.org/10.1007/978-3-211-69500-5_57

  • Publisher Name: Springer, Vienna

  • Print ISBN: 978-3-211-21396-4

  • Online ISBN: 978-3-211-69500-5

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation