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CASE REPORT
Year : 2018  |  Volume : 19  |  Issue : 2  |  Page : 170-172

Lipoid proteinosis: A series of three cases


Department of Dermatology, Venereology and Leprology, RNT Medical College, Udaipur, Rajasthan, India

Date of Web Publication26-Mar-2018

Correspondence Address:
Lalit Kumar Gupta
Department of Dermatology, Venereology and Leprology, RNT Medical College, Udaipur - 313 001, Rajasthan
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijpd.IJPD_131_16

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  Abstract 


Lipoid proteinosis is a very rare progressive autosomal recessive disorder characterized by deposition of hyaline material in the skin, upper aerodigestive tract, and internal organs. Patients present with a history of repeated blistering, skin scarring, beaded eyelid papules, waxy papules over the body, and laryngeal and tongue infiltration leading to hoarseness of voice. This disorder is caused by mutations in the extracellular protein 1 gene present on chromosome 1q21. We report three cases of lipoid proteinosis, who presented to our outpatient department with aforementioned features.

Keywords: Lipoid proteinosis, moniliform blepharosis, pock scars, Urbach-Wiethe disease


How to cite this article:
Sharma A, Gupta LK, Balai M, Khare AK. Lipoid proteinosis: A series of three cases. Indian J Paediatr Dermatol 2018;19:170-2

How to cite this URL:
Sharma A, Gupta LK, Balai M, Khare AK. Lipoid proteinosis: A series of three cases. Indian J Paediatr Dermatol [serial online] 2018 [cited 2019 Dec 6];19:170-2. Available from: http://www.ijpd.in/text.asp?2018/19/2/170/206063




  Introduction Top


Lipoid proteinosis is a very rare progressive autosomal recessive disorder characterized by deposition of hyaline material in the skin, upper aerodigestive tract, and internal organs.[1] The symptoms of the disease vary greatly from individual to individual and may include skin scarring, beaded eyelid papules, and laryngeal and tongue infiltration leading to hoarseness and limited lingual movements.[2] Although most cases have been reported from descendents of German immigrants to South Africa,[3] it is seen worldwide. Hereby, we report three cases of lipoid proteinosis with the classical presentation.


  Case Reports Top


Case 1

A 5-year-old male child born to nonconsanguineous parents presented with recurrent episodes of spontaneous blistering and erosions over face, trunk, and extremities since 2 years of age. Lesions healed with scarring and were associated with intense itching. There was no history of similar complaints in the family.

On examination, the patient had hoarseness of voice and multiple pock-like scars over face, back and upper limbs [Figure 1]a. Few crusted erosions were present over arms, knee, gluteal region, and scalp. Multiple striae were seen in axillae and shoulder [Figure 1]b. There was subtle beading of the eyelid margin. Waxy papules were seen on the back. Scalp showed patches of scarring alopecia over the occiput [Figure 1]c.
Figure 1: (a) Pock like scars over the face. (b) Multiple scars and striae over back. (c) Scarring alopecia. (d) Periodic acid–Schiff positive, hyaline material around blood vessels and eccrine glands (PAS, ×10)

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Indirect laryngoscopy showed thickening of bilateral vocal cords. X-ray skull was normal, and there was no history of seizures. Psychiatric and systemic evaluation showed no abnormality.

Histopathological examination of skin showed thick periodic acid–Schiff (PAS) positive hyaline material around blood vessels and eccrine glands [Figure 1]d.

Based on the typical clinical and histopathological features, the diagnosis of lipoid proteinosis was made.

Case 2

A 13-year-old boy presented with 11 years history of spontaneous blistering followed by the development of atrophic scars over face, neck, back and shoulders, and hoarseness of voice since 1 year of age.

On examination, the patient had multiple pock-like scars over face and trunk with scarring alopecia and palatal infiltration [Figure 2]a-c]. There was no history of seizures or any neuropsychiatric or metabolic disorder.
Figure 2: (a and b) Multiple pock-like scars over face and trunk. (c) Scarring alopecia. (d) Periodic acid–Schiff positive, eosinophilic material in dermis (PAS, ×10)

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Skin biopsy showed similar PAS positive hyaline material around dermal vessels and eccrine glands [Figure 2]d.

Case 3

A 13-year-old male presented with a history of itchy papular lesions over body followed by blistering and erosions and subsequent scarring, since 5 years of age. The patient was born to nonconsanguineous parents, and family history and systemic examination was noncontributory. Psychiatric evaluation revealed mild mental retardation. X-ray of the skull did not reveal any calcifications.

On examination, the patient had pock-like scars and crusted erosions over extremities, back, gluteal region, and scalp [Figure 3]a. The patient had beading of eyelids, hoarseness of voice, and difficulty in protruding tongue [Figure 3]b and [Figure 3]c.
Figure 3: (a) Pock like scars and crusted erosions over trunk and extremities. (b) Thick, immobile tongue. (c) beaded eyelid margins. (d) Periodic acid–Schiff positive, hyaline material in the dermal papillae, and around the blood vessels (PAS, ×10)

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Skin biopsy showed hyaline material in the dermal papillae and around the blood vessels [Figure 3]d.

[Table 1] summarizes the clinical features of cases.
Table 1: Summary of clinical features of patients with lipoid proteinosis

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  Discussion Top


Lipoid proteinosis is a rare autosomal recessive disorder, first described by a dermatologist and otorhinolaryngologist, Urbach and Wiethe in 1929. Its original name of “lipoidosis cutis et mucosae” was changed to “lipoid proteinosis cutis et mucosae” due to Urbach's belief that the condition was due to abnormal lipid and protein deposits within the tissues.

This disorder is caused by mutations in the extracellular protein 1 gene present on chromosome 1q21,[4] which encodes a secretory glycoprotein, and plays an important role in the structural and functional biology of the skin.[5] Absent or reduced expression of this protein causes aberrant hyaline deposition in various tissues.

Cutaneous lesions are usually absent at birth and start as blisters and erosions in early childhood which heal with scarring. Hoarseness of voice may be present at birth or may develop later. The presence of beaded papules over eyelid margin (moniliform blepharosis) is quite characteristic. These patients are very susceptible to minor trauma and infections can occur easily. The face and extremities in many of the cases are covered with pockmarked scars.[6] Other skin lesions include waxy papules, warty plaques, and patchy alopecia over the scalp. There can be yellow waxy infiltration of oral cavity, and enlargement of tongue, frenulum, and epiglottis, restricting tongue movement.

Extracutaneous manifestations such as epilepsy and neuropsychiatric illnesses are less commonly seen and can be associated with intracranial calcification in amygdala or temporal lobe. Widespread visceral involvement has also been described.[7]

Histopathology shows deposition of PAS positive and diastase resistant hyaline material around blood vessels and appendages. Immunofluorescence labeling for type IV collagen confirms the basement membrane thickening.

Although the clinical feature of hoarseness of voice, beaded waxy papules over eyelid and pock like scarring are characteristic, the condition needs to be differentiated from metabolic disorders such as erythropoietic protoporphyria (EPP), amyloidosis, xanthomatosis, and papular mucinosis (scleromyxedema). EPP can be ruled out on the basis of photosensitivity and involvement of photo-exposed areas. Histopathology in EPP reveals deposition of homogenous pale eosinophilic PAS-positive, diastase-resistant material around blood vessels with sparing of adnexa. In amyloidosis, the hyalinization is milder, more focal and superficial, and it rarely involves the eccrine glands. Histopathology of xanthomatosis shows lipid-laden foam cells in dermis or subcutis with areas of cholesterol clefts. Papular mucinosis shows diffuse dermal mucin deposition stained with alcian blue or colloidal iron stain, fibroblast proliferation, and fibrotic collagen.

The treatment options are very limited and mainly symptomatic. It includes CO2 laser, dissection of vocal cords and blepharoplasty for eyelid lesions.[8] Skin lesions can be treated by dermabrasion and chemical skin peeling. Treatment with oral dimethyl sulfoxide, d- penicillamine, and retinoids [9] have been reported to be useful. The overall prognosis of the condition is good.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Muda AO, Paradisi M, Angelo C, Mostaccioli S, Atzori F, Puddu P, et al. Lipoid proteinosis: Clinical, histologic, and ultrastructural investigations. Cutis 1995;56:220-4.  Back to cited text no. 1
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2.
Savage MM, Crockett DM, McCabe BF. Lipoid proteinosis of the 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. 2
[PUBMED]    
3.
Van Hougenhouck-Tulleken W, Chan I, Hamada T, Thornton H, Jenkins T, McLean WH, et al. Clinical and molecular characterization of lipoid proteinosis in Namaqualand, South Africa. Br J Dermatol 2004;151:413-23.  Back to cited text no. 3
[PUBMED]    
4.
Hamada T, McLean WH, Ramsay M, Ashton GH, Nanda A, Jenkins T, 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.  Back to cited text no. 4
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5.
Sercu S, Zhang M, Oyama N, Hansen U, Ghalbzouri AE, Jun G, et al. Interaction of extracellular matrix protein 1 with extracellular matrix components: ECM1 is a basement membrane protein of the skin. J Invest Dermatol 2008;128:1397-408.  Back to cited text no. 5
[PUBMED]    
6.
Sen S, Roy G, Bandopadhyay D. Lipoid proteinosis. Indian J Dermatol 2006;51:49-50.  Back to cited text no. 6
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7.
Caplan RM. Visceral involvement in lipoid proteinosis. Arch Dermatol 1967;95:149-55.  Back to cited text no. 7
[PUBMED]    
8.
Buchan NG, Kemble JV. Successful surgical treatment of lipoid proteinosis. Br J Dermatol 1974;90:561-6.  Back to cited text no. 8
[PUBMED]    
9.
Gruber F, Manestar D, Stasic A, Grgurevic Z. Treatment of lipoid proteinosis with etretinate. Acta Derm Venereol 1996;76:154-5.  Back to cited text no. 9
[PUBMED]    


    Figures

  [Figure 1], [Figure 2], [Figure 3]
 
 
    Tables

  [Table 1]



 

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