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  Table of Contents    
CASE REPORT  
Year : 2012  |  Volume : 55  |  Issue : 3  |  Page : 375-376
Urbach-Wiethe disease (lipoid proteinosis)


1 Department of Pathology, Tepecik Research and Training Hospital, Izmir, Turkey
2 Department of Otorhinolaryngology, Tepecik Research and Training Hospital, Izmir, Turkey
3 Department of Dermathology, Tepecik Research and Training Hospital, Izmir, Turkey

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Date of Web Publication29-Sep-2012
 

   Abstract 

Lipoid proteinosis is a rare autosomal recessive disorder of variable severity that may involve the skin, mucous membranes of the upper respiratory tract and internal organs that may display different clinical manifestations based on the site of involvement. A 34-year-old male patient was admitted to our hospital with a complaint of hoarseness present since childhood but had worsened in recent years. A dermatological examination revealed light brown papillomatous skin lesions on the dorsum of both hands and elbows present for a long duration. Endoscopic examination of the larynx revealed widespread mucosal thickening and irregularity. Microscopic examination revealed acid Schiff (PAS) positive, Congo red negative eosinophilic hyaline material deposits in the dermis and submucosal regions. The final diagnosis was lipoid proteinosis with skin and larynx involvement. This typical case has been reported to draw attention to the fact that lipoid proteinosis should be included in the differential diagnosis of patients presenting with hoarseness in childhood.

Keywords: Larynx, lipoid proteinosis, Urbach-Wiethe disease

How to cite this article:
Kucuk U, Erdogan IG, Bayol U, Hacioglu N, Cukurova I, Bicakci C. Urbach-Wiethe disease (lipoid proteinosis). Indian J Pathol Microbiol 2012;55:375-6

How to cite this URL:
Kucuk U, Erdogan IG, Bayol U, Hacioglu N, Cukurova I, Bicakci C. Urbach-Wiethe disease (lipoid proteinosis). Indian J Pathol Microbiol [serial online] 2012 [cited 2019 Oct 18];55:375-6. Available from: http://www.ijpmonline.org/text.asp?2012/55/3/375/101749



   Introduction Top


The  Urbach-Wiethe disease More Details or lipoid proteinosis (LP), is referred to the entity characterized by hyalinosis of the skin, mucous membranes of the upper aerodigestive tract and internal organs. [1] LP was first described in 1929 by Urbach a dermatologist and Wiethe an otorhinolaryngologist. [2] About 300 LP cases have been reported in the literature without a known cure. [3]


   Case Report Top


A 34-year-old male patient was admitted to our hospital with a complaint of hoarseness present since childhood but had worsened in recent years. The patient had undergone consultations at multiple centers for his long-standing complaints and surgical procedure was decided 10 years ago. After surgery he did not receive the operative report or pathology report. There was no history of consanguineous marriage. The patient has two sisters and four brothers and he reported that one of his brothers died of lung carcinoma at the age of 45. One of his brothers and aunt also had complaints of hoarseness. A dermatological examination revealed light brown papillomatous skin lesions on the dorsum of both hands and elbows of which were present for a long duration [Figure 1]a. Endoscopic examination of the larynx revealed widespread mucosal thickening and irregularity with subglottic extension involving the petiole of the epiglottis, arytenoids, interarytenoid distance, ventricle and anterior commissure [Figure 1]b.
Figure 1: (a) Light brown papillomatous skin lesions on the dorsum of both hands. (b) On laryngoscopy; widespread mucosal thickening and irregularity involving the petiole of the epiglottis, arytenoids, interarytenoid distance, ventricle and anterior commissure

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Biopsies were obtained from skin lesions and larynx. Hematoxylin and eosin (HE) stained cut sections of the skin biopsy revealed papillomatosis, widespread deposition of eosinophilic hyaline material that concentrated around perivascular areas in the papillary dermis. Hyaline material deposits were separated from the surrounding tissue by a retraction artifact [Figure 2]a. All of the endoscopic biopsies obtained from yellow-colored papular areas of larynx revealed irregular thickening of the epithelium and intense deposition of eosinophilic material in the subepithelial region [Figure 2]b. Skin and larynx biopsies showed that the eosinophilic material identified by HE staining stained positive with PAS but displayed a negative reaction with Congo red [Figure 2]c.
Figure 2: (a) Papillomatosis in the epidermis, widespread deposition of eosinophilic hyaline material that was separated from the surrounding tissue by a retraction artifact (HE, ×40). (b) Irregular thickening of the epithelium and intense, perivascular, stromal deposition of eosinophilic material in the subepithelial region of larynx (HE, ×200). (c) On skin biopsy; perivascular and stromal PAS-positive deposition of hyaline material in the subepidermal region (thin arrow: epidermis, thick arrow: hyaline deposition)

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   Discussion Top


LP is a rare autosomal recessive disorder that involves the skin, mucous membranes of the upper aerodigestive tract and internal organs. It displays different clinical manifestations based on the site of involvement and severity of the lesions. The main problem about this entity is delayed diagnose because of silent clinical course. [1],[2]

A higher prevalence has been reported in South Africa where consanguineous marriage is more common. [3] Besides several case reports, an article containing 14 LP cases was reported in 2007 in our country where consanguineous marriage is also common. [4] According to the chromosome analysis performed by Hamada et al. in 2002, the disorder was mapped to 1q21 locus. The responsible gene was found to be the extracellular matrix protein 1 gene. [5]

Even though homozygous mutations are usually described, heterozygous mutations have also been reported in this gene coding a glycoprotein of undefined function. [1],[6]

Although the disorder may display multiple systemic involvement, it primarily affects skin and mucosal membranes of the upper aerodigestive tract. [7]

Firstly hyaline deposits occur in the larynx. Hoarseness begins soon after birth and progress with age. [8] Laryngeal lesions range from small irregularities along the rims of the vocal folds to widespread lesions requiring tracheotomy. [3]

Skin lesions are usually absent at birth and tend to develop with declining age. [3] Lesions present with a wide clinical range varying from tiny yellow papules-plaques to acneiform-varioliform scars. [4]

Microscopic examination of the biopsy reveals deposition of PAS-positive, Congo red-negative eosinophilic hyaline material around adnexal structures and veins in the dermis and submucosal regions. This staining pattern indicates the presence of glycoprotein in the deposits. [1] A variety of hypothesis have been proposed to explain the content of hyaline material deposition. Some of these hypothesis are, (i) overproduction of collagen type IV and V by endothelial cells, (ii) reduced production of collagen types I and III with increased synthesis of noncollagenous glycoproteins by fibroblasts, (iii) defective degradation of glycol or sphingolipids. [9]

The differential diagnoses of skin lesions include erythropoietic protoporphyria, papular mucinosis, amyloidosis and xanthomatosis. Xu et al. reported 22 cases of whom the initial diagnoses were chronic laryngitis, laryngeal neoplasm, vocal cord polyp and vocal fold insufficiency. [1] The differential diagnoses of hoarseness in childhood particularly include congenital dysphonia and congenital hypothyroidism. [9] LP is differentiated from diseases such as laryngeal amyloidosis, vocal cord polyp, erythropoetic protoporphyria by histochemical analysis (PAS, Congo red) of the deposits in the lesional biopsies in addition to clinical and biochemical examinations. [1]

The prognosis of the disease is variable and achieving the cure seems impossible. [8] Laser microsurgery can be used to preserve the voice and to eliminate the necessity of tracheotomy. [10]

A typical case has been reported here to draw attention to lipoid proteinosis which should be included in the differential diagnosis of patients presenting with hoarseness in childhood and the biopsy is essential for definitive diagnosis.

 
   References Top

1.Xu W, Wang L, Zhang L, Han D, Zhang L. Otolaryngological manifestations and genetic characteristics of lipoid proteinosis. Ann Otol Rhinol Laryngol 2010;119:767-71.  Back to cited text no. 1
[PUBMED]    
2.Urbach E, Wiethe C. Lipoidosis cutis et mucosae. Virchows Arch A Pathol Anat 1929;273:285-319.  Back to cited text no. 2
    
3.Oz F, Kalekoglu N, Karakullukcu B, Ozturk O, Oz B. Lipoid proteinosis of the larynx. J Laryngol Otol 2002;116:736-9.  Back to cited text no. 3
    
4.Baykal C, Topkarci Z, Yazganoglu KD, Azizlerli G, Baykan B. Lipoid proteinosis: A case series from Istanbul. Int J Dermatol 2007;46:1011-6.  Back to cited text no. 4
[PUBMED]    
5.Hamada T. Lipoid proteinosis. Clin Exp Dermatol 2002;27:624-9.  Back to cited text no. 5
[PUBMED]    
6.Wang CY, Zhang PZ, Zhang FR, Liu J, Tian HQ, Yu L. New compound heterozygous mutations in a Chinese family with lipoid proteinosis. Br J Dermatol 2006;155:470-2.  Back to cited text no. 6
[PUBMED]    
7.Savage MM, Crockett DM, McCabe BF. Lipoid proteinosis of larynx: A cause of voice change in the infant and young child. Int J Pediatr Otorhinolaryngol 1988;15:33-8.  Back to cited text no. 7
[PUBMED]    
8.Acar A, Eryilmaz A, Gocer C, Akmansu H, Korkmaz H. Lipoid proteinosis of larynx: Review of four cases. Int J Pediatr Otorhinolaryngol 2004;68:1557-61.  Back to cited text no. 8
    
9.Holme SA, Lenane P, Krafchik BR. What syndrome is this? Urbach-Weithe syndrome (lipoid proteinosis). Pediatr Dermatol 2005;22:266-7.  Back to cited text no. 9
[PUBMED]    
10.Harper JI, Duguid KP, Staughton RC, Moffat DA. Oropharyngeal and laryngeal lesions in lipoid proteinosis. J Laryngol Otol 1983;97:877-80.  Back to cited text no. 10
[PUBMED]    

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Correspondence Address:
Ulku Kucuk
Tepecik Research and Training Hospital, Pathology Department, Izmir
Turkey
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0377-4929.101749

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    Figures

  [Figure 1], [Figure 2]

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