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Year : 2016  |  Volume : 7  |  Issue : 2  |  Page : 143-144  

Urbach-Weithe disease (lipoid proteinosis): A classical presentation

Department of Dermatology, Venereology and Leprology, Pandit Bhagwat Dayal Sharma Post Graduate Institute of Medical Sciences, Rohtak, Haryana, India

Date of Web Publication4-Mar-2016

Correspondence Address:
Dr. Ankita Sangwan
House No 488, Sector 15, Hisar - 125 001, Haryana
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2229-5178.178089

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How to cite this article:
Sangwan A, Kaur S, Jain VK, Dayal S. Urbach-Weithe disease (lipoid proteinosis): A classical presentation. Indian Dermatol Online J 2016;7:143-4

How to cite this URL:
Sangwan A, Kaur S, Jain VK, Dayal S. Urbach-Weithe disease (lipoid proteinosis): A classical presentation. Indian Dermatol Online J [serial online] 2016 [cited 2020 Jul 11];7:143-4. Available from: http://www.idoj.in/text.asp?2016/7/2/143/178089

A 10-year-old female child presented with a history of blistering over face and entire body along with a weak cry since infancy and hoarseness of voice that progressively worsened with age. The blisters would occur in response to minor trauma and resolve with depressed scars. On examination, multiple, atrophic, pock-like scars were noted over the face [Figure 1] as well as extremities and trunk [Figure 2]. Both eyelids showed multiple, well-defined beaded papules along the upper and lower margins (moniliform blepharosis) [Figure 1]. Skin over the extensor aspect of the elbows and knees was thickened and showed a few brownish, thickened plaques [Figure 3]. Upon oral examination, the sublingual frenulum and tongue were found to be infiltrated and thickened with inability to protrude the tongue beyond the oral cavity [Figure 4]. The tongue had a woody hard feel on palpation. The parents denied any history of epilepsy, behavioral disturbances, or similar ailment in any family member. A provisional diagnosis of lipoid proteinosis was made and subsequently confirmed by histopathological examination, which revealed periodic acid schiff (PAS)-positive, diastase-resistant eosinophilic material in dermis and walls of blood vessels [Figure 5]. Parents were counseled regarding the nature and progression of the disease.
Figure 1: Multiple beaded papules on upper and lower eyelids in both eyes, with pock-like scars on nose and cheeks

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Figure 2: Multiple depressed scars over buttocks and thighs

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Figure 3: Brownish hyperpigmented plaques over both knees

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Figure 4: Thickened, woody hard, and fixed tongue in oral cavity

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Figure 5: PAS-positive, diastase-resistant eosinophillic material deposition in perivascular and periadnexal spaces in dermis (20×)

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Lipoid proteinosis, also known as Urbach–Wiethe disease or hyalinosis cutis et mucosae, is a rare, autosomal recessive, inherited disorder associated with mutations in the ECM1 gene,[1] which encodes for the glycoprotein extracellular matrix protein 1. About 300 cases have been reported so far in the literature. The disease is characterized by deposition of hyaline material in oral cavity, skin, larynx, central nervous system, and others. It usually presents in infancy as hoarseness and weak cry that progressively worsens with age and may lead to aphonia [2] due to inelasticity of the vocal cords. The woody hard tongue is difficult to move or protrude outside oral cavity.[3] Skin susceptibility to trauma is marked and vesicles/bullae appear in crops, to subsequently heal with acneiform scars. The typical beaded papules along the upper and lower eyelid margins and brownish verrucous plaques over extensor surfaces such as elbows and knees are characteristic of the disease.[4] Poor nail growth, dental anomalies, and intracranial calcification in amygdala and temporal lobes leading to epilepsy or psychiatric disturbances may be seen.[5] Typical skin lesions, hoarseness, and thick immobile tongue usually suffice for clinical diagnosis, although other possible differential diagnoses, such as erythropoietic protoporphyria, amyloidosis, lichen myxedematosus and myxedema with hoarseness need to be carefully ruled out. Histology reveals hyperkeratosis, acanthosis and deposition of characteristic PAS-positive, diastase-resistant eosinophilic hyaline material in the perivascular, periadnexal areas as well as dermis and submucosa. Microlaryngeal surgery for vocal cords, blepharoplasty for eye lesions and dermabrasion, chemical peeling, and CO2 laser therapy for skin lesions may offer some symptomatic relief.[2] Favorable outcome with acitretin and d-penicillamine has been reported by some authors.[6],[7] The overall prognosis of lipoid proteinosis is good, with normal life expectancy and stabilization of the disease in adulthood.

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   References Top

Chan I, Liu L, Hamada T, Sethuraman G, McGrath JA. The molecular basis of lipoid proteinosis: Mutations in extracellular matrix protein 1. Exp Dermatol 2007;16:881-90.  Back to cited text no. 1
Sarkany RP, Breathnach SM, Morris AA, Weismann K, Flynn PD. Metabolic and nutritional disorders. In: Burns T, Breathnach S, Cox N, Griffiths C, editors. Rooks Textbook of Dermatology. 8th ed. United Kingdom: Blackwell Publications; p. 59.41-2.  Back to cited text no. 2
Kumar AS, Seetharam KA, Singh MK, Vasvani N. Lipoid proteinosis. Indian J Dermatol Venereol Leprol 1986;52:95-8.  Back to cited text no. 3
Kumar B, Dogra S. Metabolic disorders. In: Valia AR, Valia R, editors. IADVL Textbook of Dermatology. 3rd ed. Mumbai: Bhalani Publications; 2008. p. 1320-2.  Back to cited text no. 4
Siebert M, Markowitsch HJ, Bartel P. Amygdala, affect and cognition: Evidence from 10 patients with Urbach-Wiethe disease. Brain 2003;126:2627-37.  Back to cited text no. 5
Toosi S, Ehsani AH. Treatment of lipoid proteinosis with acitretin: A case report. J Eur Acad Dermatol Venereol 2009;23:482-3.  Back to cited text no. 6
Kaya TI, Kokturk A, Tursen U, Ikizoglu G, Polat A. D-penicillamine treatment for lipoid proteinosis. J Eur Acad Dermatol Venereol 2002;16:286-8.  Back to cited text no. 7


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

This article has been cited by
1 Title Oral manifestations of lipoid proteinosis A rare clinical entity
Sneha R. Sharma,Freny R. Karjodkar,Kaustubh P. Sansare,Mohd Saalim
Journal of Oral and Maxillofacial Surgery, Medicine, and Pathology. 2018;
[Pubmed] | [DOI]


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