Indian Journal of Radiology Indian Journal of Radiology  

   Login   | Users online: 330

Home Bookmark this page Print this page Email this page Small font sizeDefault font size Increase font size     

 

IMAGES Table of Contents   
Year : 2001  |  Volume : 11  |  Issue : 2  |  Page : 85-87
Images : Lipoid proteinosis


Department of Radiology & Dermatology, Joshi Hospital, M.M. Foundation, 778 Shivajinagar, Pune 411030, India

Click here for correspondence address and email
 

Keywords: CT, MR, lipoid proteinosis

How to cite this article:
Rahalkar M D, Kelkar A B, Gharpuray M B, Patwardhan N G. Images : Lipoid proteinosis. Indian J Radiol Imaging 2001;11:85-7

How to cite this URL:
Rahalkar M D, Kelkar A B, Gharpuray M B, Patwardhan N G. Images : Lipoid proteinosis. Indian J Radiol Imaging [serial online] 2001 [cited 2019 Jun 20];11:85-7. Available from: http://www.ijri.org/text.asp?2001/11/2/85/28381
Lipoid proteinosis (LP) is a rare, inherited, metabolic disorder in which there is deposition of a hyaline material rich in proteins, lipids and carbohydrates in extra-cellular spaces in and around the walls of blood vessels. The disease process progresses from early childhood to affect the skin, the mucous membranes of the pharynx, larynx, trachea and esophagus, and presents with distinctive dermatological features. Bilateral, symmetrical, intra-cranial, hippocampal calcification is a characteristic observation in LP. We present a series of four cases of LP, which exhibited typical dermatological, biochemical, histological and radiological features. Imaging included CT in all patients and MR in one.


   Case Report Top


The clinical [Figure - 1] and dermatological features of four patients are summarized in [Table - 1].

Skin biopsy in the first patient showed the epidermis to be slightly thinned out. The papillary dermis had a pink hyaline appearance .On PAS staining perpendicular, thick bundles in papillary dermis and PAS positive material around capillaries and sweat glands were observed. Mucosal biopsy revealed stratified squamous epithelium covering vascularised and partially hyalinised connective tissue. These observations were consistent with LP.

Radiographs of the skull in the AP and lateral views showed bilateral, symmetrical, bean-shaped, heavy calcification in the para-sellar region. In the lateral views these were seen just above the sella, nearly superimposed over each other [Figure - 2]. All four patients underwent CT of brain [Figure - 3],[Figure - 4] and [Figure - 5], while only one underwent an MR [Figure - 6] in addition.


   Discussion Top


LP is described differently as hyalinosis cutis et mucosae or lipoglycoproteinosis or Urbach-Weithe Syndrome. It is a rare, chronic, inherited, monogenetic, autosomal, recessive metabolic disorder characterized by widespread nodules/papules, indurated plaques and ulcerated lesions primarily involving skin and mucous membranes. It was first described in 1929 [1].

It is recognized as a systemic disorder with generalized visceral involvement due to deposition of lipids, proteins and carbohydrates in the extra-cellular spaces and walls of blood vessels. In 20 % of patients, there is a parental consanguinity. This was true for two of our four patients.

The skin manifestations become obvious in early childhood and extend further in adolescence, and remain stable afterwards. Pale pink to yellow/brown papules and nodules, many turning into pustules, give a pebbly or cobblestone appearance. Beaded lesions along the eyelids are characteristic. Involvement of mucous membranes of the mouth, larynx, trachea, esophagus and tongue leads to various symptoms, some of them from birth. These include hoarseness of voice (inability to cry at birth), aphonia, dyspnea, dysphagia, ankyloglossia, alopecia, abnormal teeth, etc. All these were noted in all of our patients.

Two of our patients had developed epilepsy, and were receiving Eptoin, when they were referred for radiological work-up. Perhaps the most striking finding to a diagnostic radiologist is bilateral, fairly dense, para-sellar, symmetrical, regular calcification seen on the skull radiograph [2]. It is differently described as bean, inverted comma or sickle-shaped, and on the lateral view of the skull the calcifications are projected largely above and partially superimposed on the sella. The calcification is due to specific peri-capillary (territory of anterior choroidal artery) degenerative changes with calcification within deposits of hyaline material in the medial temporal lobes. These deposits are localized to the amygdala and hippocampus. They had been reported on post-mortem studies by Holtz in 1962, and Meenan in 1978 [3].

Leonard et al [3] first reported CT findings in a single case of LP in 1981. The scan was performed in this patient at the age of sixty-three. Apart from an infarct in the anterior limb of the internal capsule, which was age-related, no other abnormality was seen. MRI in one and CT in all four of our patients, whose ages ranged from nine to 22 years, showed no abnormality apart from para-sellar calcification, particularly in the white matter.

Temporal lobe, grand mal and petit mal type epilepsy, indifference to pain and intellectual impairment are also known to occur in cases of LP [3]. Tomography of the larynx with or without contrast, and barium swallow studies have been suggested to define the involvement of the upper respiratory and gastro-intestinal tracts [4]. As expected, they have shown tiny nodular filling defects along the walls of the larynx, pharynx and esophagus.

To conclude, lipoid proteinosis presents with a fairly constant, well-defined, clinical and radiological spectrum. Plain radiographs and CT are adequate for a confident diagnosis of LP, while MRI is useful only to prove non-involvement of white matter or any other structure in the brain. To our knowledge, there has been no previous report of MR imaging in LP.

 
   References Top

1.Fitzpatrick TB, Eisen AZ, Wolf K, Freeberg IM and Austen KF. Dermatology in general medicine, 5th Ed. New York: McGraw-Hill, 1999; 1825-1828.   Back to cited text no. 1    
2.Taveras JM, Wood EH. Golden's Diagnostic Radiology Series, Section 1 : Diagnostic Neuro-Radiology. 2nd Ed. Vol. 1. Baltimore: Williams & Wilkin, 1977; 230.   Back to cited text no. 2    
3.Francis RS. Lipoid Proteinosis. Radiology, 1979; 117: 301-302.   Back to cited text no. 3    
4.Leonard JN et al. C.T scan appearances in a patient with Lipoid Proteinosis. Br J Radiolo 54: 1098-1100.  Back to cited text no. 4    

Top
Correspondence Address:
M D Rahalkar
X-Ray Clinic, Opp. Commonwealth Bldg, Pune 411030
India
Login to access the Email id

Source of Support: None, Conflict of Interest: None


Rights and PermissionsRights and Permissions


    Figures

[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5], [Figure - 6]

    Tables

[Table - 1]

This article has been cited by
1 Lipoid proteinosis
Sen, S., Roy, G., Bandopadhyay, D.
Indian Journal of Dermatology. 2006; 51(1): 49-50
[Pubmed]
2 Lipoid proteinosis in two brothers with multiple organ involvement from Saudi Arabia
Al-Bitar, Y., Samdani, A.J.
International Journal of Dermatology. 2004; 43(5): 360-361
[Pubmed]



 

Top
 
  Search
 
    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
    Email Alert *
    Add to My List *
* Registration required (free)  


    Case Report
    Discussion
    References
    Article Figures
    Article Tables

 Article Access Statistics
    Viewed3480    
    Printed124    
    Emailed1    
    PDF Downloaded0    
    Comments [Add]    
    Cited by others 2    

Recommend this journal