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Year : 2012  |  Volume : 3  |  Issue : 2  |  Page : 148-149  

Lipoid proteinosis: Histopathological characterization of early papulovesicular lesions

Department of Dermatology, Seth GS Medical College and King Edward Memorial Hospital, Parel, Mumbai, India

Date of Web Publication29-May-2012

Correspondence Address:
Uday Khopkar
Department of Dermatology, Seth GS Medical College and KEM Hospital, Parel, Mumbai 400 012
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2229-5178.96723

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How to cite this article:
Gutte R, Sanghvi S, Tamhankar P, Khopkar U. Lipoid proteinosis: Histopathological characterization of early papulovesicular lesions. Indian Dermatol Online J 2012;3:148-9

How to cite this URL:
Gutte R, Sanghvi S, Tamhankar P, Khopkar U. Lipoid proteinosis: Histopathological characterization of early papulovesicular lesions. Indian Dermatol Online J [serial online] 2012 [cited 2022 Jan 18];3:148-9. Available from: https://www.idoj.in/text.asp?2012/3/2/148/96723


Lipoid proteinosis (hyalinosis cutis et mucosae), first described by Urbach and Wiethe in 1929, is a rare autosomal-recessive disorder characterised by deposition of hyaline material in skin, mucous membranes and internal organs leading to various manifestations. [1] It is characterized by hoarseness of voice usually from early infancy, feeble cry, together with cutaneous manifestations like acneiform scarring, yellowish waxy papules, eyelid beading and noncutaneous manifestations due to deposition of hyaline material in the larynx and various organs. [1],[2]

A 3.5-year-old female child born of consanguineous marriage was brought with complaints of recurrent spontaneous papulovesicular lesions over the face [Figure 1] and extremities healing with scarring [Figure 2]. On enquiry, there was feeble cry, hoarseness of voice, growth retardation and multiple, recurrent fluid-filled spontaneous lesions developing over the face, back and extremities, which ruptured spontaneously, forming hemorrhagic crusts and healing with atrophic scars. Two elder siblings were unaffected. There was no history of seizures or other systemic complaints.
Figure 1: Multiple crusted erosions and atrophic scars over the face. Thick and short tongue is also seen

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Figure 2: Multiple atrophic scars of various sizes over the upper back and arms

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On examination, the child appeared small for age. There were multiple crusted erosions over the face and back with a few papulovesicular lesions and multiple pock-like, atrophic scars of size ranging from 5 to 6 cm over the face, upper back and upper extremities [Figure 1] and [Figure 2]. Woody-hard induration of the tongue with inability to protrude was seen. Mild gingival hypertrophy, a markedly hoarse voice and feeble cry were noted. Eyelids were normal. There was no history of photosensitivity. Systemic examination was normal. Lipoid proteinosis, dystrophic epidermolysis bullosa and erythropoeitic protoporphyria were considered in the differential diagnosis.

Routine hemogram and biochemical investigations including blood and urine porphyrin levels were normal. Radiograph of the scalp showed no evidence of intracranial calcification. Biopsy from one papulovesicular lesion that showed a cell-poor subepidermal blister containing fibrin and extravasated red blood cells with moderately dense perivascular mixed infiltrate of lymphocytes and neutrophils in the upper dermis with festooning of dermal papillae [Figure 3]. Within a single focus, epidermis showed intraepidermal neutrophilic spongiotic pustules in a tiered pattern with mild partial secondary acantholysis. Periodic acid Schiff (PAS) stain showed deposition of pink hyaline PAS-positive material within and around the walls of dermal vessels, around sweat glands and papillary dermis [Figure 4]. Direct immunofluroscence study was not performed as the patient could not afford the investigation. On clinicopathological correlation, a diagnosis of lipoid proteinosis (LP) was made. Genetic counselling of parents was done and the patient was treated conservatively with topical antibiotics and sunscreens. However, the patient was lost to follow-up.
Figure 3: Cell-poor subepidermal blister containing fi brin and exravasated red blood cells with perivascular mixed infi ltrate of lymphocytes and neutrophils in upper dermis (H and E, 40X)

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Figure 4: Periodic acid Schiff (PAS) stain showing deposition of pink hyaline PAS-positive material around dermal vessels and in papillary dermis (PAS stain, 40X)

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The exact pathogenesis of LP is not known. Although skin and mucosa of the upper respiratory tract are affected commonly, any organ can be affected. [3] Prognosis is generally good; patients usually have normal life expectancy, although upper respiratory involvement may compromise breathing, especially in infancy. [3],[4]

Clinical manifestations are variable. Usually, there is a hoarse cry during infancy secondary to involvement of the vocal cord mucosa. Beaded papules along the margin of eyelids, firm and less-mobile tongue due to a thickened frenulum, thickened protuberant lips, crops of papules, bullae, pustules and hemorrhagic crusts in early childhood leading to pock-like scars over the face and trunk and verrucous nodules and plaques over the axillae, scrotum, extensors of elbows and knees, early loss of teeth and pathognomic bean-shaped calcifications in areas along the sella turcica are seen. [2],[3],[4],[5] Other features include epilepsy, corneal deposits with diminution of vision, mental retardation and other neuropsychiatric illnesses, diabetes mellitus, parotitis and parotid fistula. [2],[4]

Skin lesions occur in two overlapping stages that usually start during the first two years of life. Histopathologic features of second stage are well known, but details about that of early lesions of LP are lacking. Ko et al. have found intraepidermal blister formation with extensive nondyskeratotic acantholysis, and stated that LP is probably an acantholytic dermatosis. [5] Rao also found intraepidermal blister but without acantholysis. [6] Kaya et al. reported epidermal atrophy, scale crust, extravasation of RBCs, extremely narrowed and eroded dermal papillae along with deposition of hyaline material within the dermis and vessel walls and speculated that abrupt increase in the amorphous mass might be the cause of epidermal atrophy and ulcerations might be due to the blockage of the capillary circulation in the papillary dermis as a result of perivascular depositions. [7]

We found a cell-poor subepidermal blister containing fibrin and extravasated RBCs as a prominent finding. Intraepidermal blister observed by Ko et al. and Rao et al.[5],[6] do not explain the scarring.

Cell-poor subepidermal blister may be seen in many conditions like epidermolysis bullosa, porphyrias and bullous amyloidosis. To the best of our knowledge, histopathology of early vesicular lesions of lipoid proteinosis that shows cell-poor subepidermal blister and secondary acantholysis has not been reported previously. LP may be added to the list of diseases with a cell-poor subepidermal blister.

   References Top

1.Shah MK, Shah PP, Rawal RC, Bilimoria FE. Lipoid proteinosis. Indian J Dermatol Venereol Leprol 1996;62:375-6.  Back to cited text no. 1
[PUBMED]  Medknow Journal  
2.Rao RS, Betkerur SS, Babu C, Sudha VM. Lipoid proteinosis. J Oral Maxillofac Pathol 2009;13:81-4.  Back to cited text no. 2
[PUBMED]  Medknow Journal  
3.Cole JA, Novosel TA, Williams JV. Pock like scarring and sublingual papules in a child-quiz case. Arch Dermatol 2008;144:1383-8.  Back to cited text no. 3
4.Mukhija P, Singh S, Singh SK, Mukhija RD. Lipoid proteinosis. Indian J Dermatol 2006;51:51-2.  Back to cited text no. 4
  Medknow Journal  
5.Ko C, Barr RJ. Vesicular lesions in a patient with lipoid proteinosis: A probable acantholytic dermatosis. Am J Dermatopathol 2003;25:335-7.  Back to cited text no. 5
6.Rao R, Prabhu S, Sripathi H, Gupta S. Vesiculobullous lesions in lipoid proteinosis: A case report. Dermatol Online J 2008;14:16.  Back to cited text no. 6
7.Kaya T, Tursen U, Kokturk A, Ikizoglu G, Dusmez D. The early erosive vesicular stage of lipoid proteinosis: Clinical and histopathological features. Br J Dermatol 2003;148:380-2.  Back to cited text no. 7


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

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