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Year : 2019  |  Volume : 64  |  Issue : 1  |  Page : 74-75
An unusual case of erythropoietic protoporphyria mimicking lipoid proteinosis

1 Private Dermatologist, Skin clinic, Panchkula, Haryana, India
2 Private Dermatologist, Skin Clinic, Gurgaon, Haryana, India
3 Consultant Dermatologist, Civil Hospital, Rohtak, Haryana, India
4 Department of Dermatology, Venereology an Leprology, Pt. BD Sharma, Postgraduate Institute of Medical Sciences, Rohtak, Haryana, India
5 Private Dermatologist, Dr V.K Jain Skin Care Center, Rohtak, Haryana, India

Date of Web Publication7-Jan-2019

Correspondence Address:
Dr. Parul Aggarwal
Private Dermatologist, Skin Clinic, Gurgaon, Haryana
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijd.IJD_441_17

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How to cite this article:
Kaur S, Aggarwal P, Sangwan A, Aggarwal K, Dayal S, Jain VK. An unusual case of erythropoietic protoporphyria mimicking lipoid proteinosis. Indian J Dermatol 2019;64:74-5

How to cite this URL:
Kaur S, Aggarwal P, Sangwan A, Aggarwal K, Dayal S, Jain VK. An unusual case of erythropoietic protoporphyria mimicking lipoid proteinosis. Indian J Dermatol [serial online] 2019 [cited 2022 Jan 20];64:74-5. Available from:

An 8-year-old boy, born to nonconsanguineous healthy parents, presented with a history of developing asymptomatic spontaneous erosions over face and hands since 3 year of age. His mother reported an occasional pink discoloration of child's urine. Cutaneous examination showed varioliform scarring, thickening, hyperpigmentation, and hypertrichosis over the face [Figure 1]a. Crusted erosions were seen over the ears [Figure 1]b and dorsa of hands [Figure 1]c. Hyperkeratotic plaques were present over elbows [Figure 1]d and beaded papules along eyelid margins [Figure 1]e. The patient had a husky voice. Oral mucosa and vocal cords showed no abnormality. Based on these mixed findings, presumptive diagnoses of lipoid proteinosis (LP) and porphyria were thought of.
Figure 1: (a) The patient had bushy eyebrows and facial hypertrichosis with varioliform scarring, thickening, and hyperpigmentation over face. (b) Roughened skin texture and crusted erosions over bilateral ears and (c) dorsae of hands. (d) Hyperkeartotic plaques over elbows. (e) Beaded papules along eyelid margins

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Skin biopsy showed hyperkeratosis and acanthosis of the epidermis. Dermis showed mild perivascular inflammatory infiltrate with deposition of periodic acid–Schiff-positive hyaline material [Figure 2].
Figure 2: Histopathology showing epidermal hyperkeratosis with perivascular inflammatory infiltrate and deposition of hyaline material in dermis. (a) H and E, ×10, (b) H and E, ×40

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Wood's lamp examination of urine sample showed a pink fluorescence [Figure 3]. Plasma porphyrin analysis showed an abnormal peak at 630 nm and erythrocyte protoporphyrin was 18.2 μmol/L (normal 0.4–1.0), consistent with the diagnosis of erythropoietic protoporphyria (EPP). Urine examination revealed a coproporphyrin level of 98.2 nmol/L (normal 0–10). Full blood count, urea, electrolytes, liver function tests, and antinuclear antibodies were all normal. Although no photosensitivity was reported, the patient was still advised about sun avoidance measures and prescribed physical sunscreens. The parents were counseled regarding the risk of hepatic complications and the need for regular assessment of hepatic function.
Figure 3: Pink fluorescence on wood's lamp examination of urine sample

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EPP is an autosomal dominant disorder caused by deficiency of enzyme ferrochelatase, which catalyzes the insertion of iron into protoporphyrin to form heme leading to the accumulation of protoporphyrins in erythrocytes, plasma, skin, and liver. The usual presenting feature is photosensitivity, which may differ in severity from mild itching to intense burning.[1] The onset is often during infancy; however, in some cases, it may not occur until adolescence or adulthood.[1] The usual cutaneous manifestations are erythema and edema of exposed areas. Repeated episodes result in permanent skin thickening and dermal hyaline accumulation on histopathology.[2] Only a few cases of EPP presenting with severe disfigurement and extensive hyaline deposition have been reported worldwide and such cases need to be differentiated from LP.[2]

LP is a rare autosomal recessive disorder, characterized by the infiltration of hyaline material into the skin, oral cavity, larynx, and internal organs. It has an infantile onset presenting clinically with a hoarse cry, oral nodules, and waxy papules around joints and along lid margins.[1] Both LP and EPP show atrophic scarring after mild skin inflammation, but in EPP, this is seen on the exposed areas only, while not so restricted in LP.[3]

The relationship between LP and porphyria has been studied earlier and it was suggested that a skin condition resembling LP could be produced by EPP. Literature describes anecdotal case reports of patients suffering from “light-sensitive LP.” An individual case of LP with simultaneous EPP has also been reported with typical features of both disorders.[4] The unusual feature in our case of marked skin changes over exposed areas in the absence of significant photosensitivity further complicated the diagnosis. The case highlights the inter-individual variations seen in symptoms and the importance of complete evaluation of biochemical changes of porphyria.

The presence of porphyrinuria was another unusual manifestation in our case. Usually, blood and stool porphyrin levels are elevated in EPP while urine examination is normal, since protoporphyrins are water insoluble. However, this feature has been reported in EPP patients with hepatic involvement.[3] A quarter of individuals with EPP develop some degree of liver dysfunction.[1] The course remains unpredictable, with clinical and laboratory evidence unapparent until the terminal illness. Elevated levels of coproporphyrins in urine have been seen to be the earliest and most sensitive indicators in the clinically asymptomatic phase.[3] Such patients require regular liver function tests and periodic liver biopsies.[5]

While porphyrinuria was a key feature that helped in the diagnosis in our case, liver function tests did not reveal any abnormality. The parents refused for liver biopsy, but the patient was being kept under close surveillance. The case highlights the need to monitor a patient of EPP for hepatic involvement and the significance of coproporphyrinuria as an early sign for the same.

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.

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Conflicts of interest

There are no conflicts of interest.

   References Top

Bickers DR, Frank J. The porphyrias. In: Wolff K, Goldsmith LA, Katz SI, Gilchrest BA, Paller AS, Leffel DJ, editors. Fitzpatrick's Dermatology in General Medicine. 8th ed. USA: McGraw-Hill Inc.; 2015. p. 1538-73.  Back to cited text no. 1
Tewari A, Fassihi H, McGibbon D, Robson A, Sarkany R. A case of extensive hyaline deposition in facial skin caused by erythropoietic protoporphyria. Br J Dermatol 2014;171:412-4.  Back to cited text no. 2
Yeshanehe WE, Tirumalae R, Böer-Auer A. From the dermatologikum hamburg: Quiz. Dermatol Pract Concept 2012;2:204a04.  Back to cited text no. 3
Findlay GH, Scott FP, Cripps DJ. Porphyria and lipid proteinosis. A clinical, histological and biochemical comparison of 19 South African cases. Br J Dermatol 1966;78:69-80.  Back to cited text no. 4
Cripps DJ, Goldfarb SS. Erythropoietic protoporphyria: Hepatic cirrhosis. Br J Dermatol 1978;98:349-54.  Back to cited text no. 5


  [Figure 1], [Figure 2], [Figure 3]


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