Skip to main content
Open Access Publications from the University of California

Dermatology Online Journal

Dermatology Online Journal bannerUC Davis

Vesiculobullous lesions in lipoid proteinosis: A case report

Main Content

Vesiculobullous lesions in lipoid proteinosis: A case report
Raghavendra Rao MD DNB MNAMS, Smitha Prabhu MD, H Sripathi DVD DNB, Sachi Gupta MBBS
Dermatology Online Journal 14 (7): 16

Department of Dermatology, Kasturba Medical College, Manipal, India.


Vesiculobullous disorders in a child can be a diagnostic challenge. Common causes of blisters in early childhood include genodermatoses like epidermolysis bullosa and infections like herpes simplex. Lipoid proteinosis may rarely present with vesiculobullous lesions in childhood. We report a child, who presented in early childhood with blistering dermatosis. On long term follow-up, typical features of lipoid proteinosis developed. A high index of suspicion is required when one deals with blistering dermatosis in a child.


Lipoid Proteinosis (OMIM no 247100) is a rare, autosomal-recessive genodermatosis, characterized clinically by a myriad of signs and symptoms that include hoarseness of the voice, beaded eyelid papules (moniliform blepharosis), yellowish-white mucocutaneous infiltrates, and atrophic pock- like scars [1, 2]. Rarely, vesicles and crusted lesions may occur in the early stage of lipoid proteinosis [3]. The blistering may be severe enough to mimic other childhood blistering dermatosis such as epidermolysis bullosa. Surprisingly, these transient epidermal vesicles and erosions have received scant attention, both in their clinical description and corresponding histological characteristics. We present an interesting case of lipoid proteinosis who presented initially with vesiculobullous lesions without other manifestations and was thus misdiagnosed as a case of epidermolysis bullosa. Typical lesions of lipoid proteinosis developed subsequently as she was followed up for a decade.

Case synopsis

A female child, born to non-consanguineous parents presented at the age of 2 years in 1997 with multiple blisters all over the body of 6 months duration. There was no history of photosensitivity or passing red colored urine. Examination revealed the presence of multiple tense vesicles and erosions on a non-erythematous base on the scalp, face, elbows, hands, and legs. Oral mucosa and nails were unaffected. A biopsy of the intact vesicle revealed intraepidermal blister; direct immunofluorescence of the perilesional skin was negative. A diagnosis of epidermolysis bullosa simplex was made. She was treated symptomatically with topical antibiotics. She was followed up yearly for 4 years during which the frequency as well as severity of blister formation diminished. Subsequently, she was lost for follow-up. Incidentally, during this time she developed unremitting hoarseness of the voice for which she consulted an ENT surgeon. Hospital records showed she had edematous vocal cords on laryngoscopic examination for which she was advised speech therapy. In 2006, she consulted us again for the complaint of asymptomatic papular lesions on the nape of neck and upper limbs of 2 years duration. Cutaneous examination revealed the presence of multiple, discrete yellowish papules on the nape of neck and the outer aspect of the arms and elbows (Fig. 1). Tiny infiltrated papules were seen along the eyelid margins (Fig. 2). There were multiple pock-like scars on the face (Fig. 3) and erosions with crusting were found on the right elbow (Fig. 4). Partial alopecia was seen on the scalp (Fig. 5). Biopsy of the representative lesion showed the deposition of periodic acid-Schiff (PAS) positive, diastase resistant hyaline materials around the blood vessels in the dermis, confirming our clinical diagnosis of lipoid proteinosis.

Figure 1Figure 2
Figure 1. Beaded papules along the eyelid margins
Figure 2. Varioliform scars on the cheeks

Figure 3Figure 4
Figure 3. Erosions and crusting on the right elbow
Figure 4. Partial alopecia on the scalp

Figure 5
Figure 5. Photomicrograph showing PAS positive deposits around the blood vessels (10x)


Histological changes of late infiltrative lesions of lipoid proteinosis are well documented in the literature [4]. The most obvious change is the deposition of PAS positive and diastase resistant hyaline material around blood vessels and appendages. However, there is paucity of reports describing the histological characterization of the early stage of lipoid proteinosis. Our patient presented with tense vesicles and histopathological examination revealed the presence of intraepidermal blister. Ko et al. have detected extensive nondyskeratotic acantholysis as the cause of intraepidermal blister formation in their patient [5]. Our patient did not show acantholysis; Kaya et al. made similar observations [6].

A recent study has shown that LP results from mutations in the extracellular matrix protein 1 (ECM1) [7] .There is now growing evidence to support that ECM1 is critical to the intercellular adhesion of a keratinocyte and plays an important role in the binding of keratin intermediate filaments to the desmosomal region. Mutations of ECM1 lead to loss of keratinocyte cohesion, which in turn leads to the presence of "free-floating" desmosomes in the intercellular spaces [8]. This probably explains the acantholysis observed by Ko et al. in their patient.

To conclude, lipoid proteinosis should be considered in the differential diagnosis of vesiculobullous lesions in a child and long term follow-up should be done in these patients. Careful histological examination with PAS staining often helps to clinch the diagnosis of lipoid proteinosis.


1. Breathnach SM. Lipoid proteinosis. In: Burns T, Breathnach SM, Cox N, Griffiths C, editors. Rook's Textbook of Dermatology., 7th Ed. Oxford: Blackwell publishing, 2004; 57.56-57.57

2. Galadari I, Al-Kuwaiti R. Lipoid proteinosis: a case report Int J Dermatol 2004; 43:368-370

3. Nanda A, Alsaleh QA, AL-Sabah H, Ali AM, Anim JT. Lipoid proteinosis: report of four siblings and brief review of literature. Pediatr Dermatol 2001; 18: 21-26

4. Maize J, Maize J Jr, Metcalf J. Lipoid proteinosis (Hyalinosis cutis et mucosae, Urbach-weithe disease). In: Elder DE, Elenitsas R, Johnson BL, Murphy GF, editors. Lever's histopathology of skin. 9th Ed. Philadelphia: Lipponcott Williams and Wilkins, 2005; 440-441

5. Ko C, Barr RJ. Vesicular lesions in a patient with lipoid proteinosis: A probable acantholytic dermatosis. Am J Dermatopathol 2003; 25:335-337

6. Kaya TI, Tursen U, Kokturk A, Tkizoglu G, Dusnez D. The early erosive vesicular stage of lipoid proteinosis: Clinical and histopathological feature. Br J Dermatol 2003; 148:380-382

7. Hamada T, Wessagowit V, South AP et al. Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation. J Invest Dermatol 2003; 120:345-350

8. Dyer JA, Yu QC, Paller AS. "Free-floating" desmosomes in lipoid proteinosis: An inherent defect in keratinocyte adhesion? Pediatr Dermatol 2006:23:1-6

© 2008 Dermatology Online Journal