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CLINICAL IMAGE
Year : 2020  |  Volume : 152  |  Issue : 7  |  Page : 55-56

Childhood porphyria causing lifelong multilating photosensitivity


Department of Dermatology, Madras Medical College, Chennai 600 003, Tamil Nadu, India

Date of Submission28-Oct-2019
Date of Web Publication25-May-2021

Correspondence Address:
A Ramesh
Department of Dermatology, Madras Medical College, Chennai 600 003, Tamil Nadu
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijmr.IJMR_1891_19

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How to cite this article:
Ramesh A, Shabari A. Childhood porphyria causing lifelong multilating photosensitivity. Indian J Med Res 2020;152, Suppl S1:55-6

How to cite this URL:
Ramesh A, Shabari A. Childhood porphyria causing lifelong multilating photosensitivity. Indian J Med Res [serial online] 2020 [cited 2021 Sep 16];152, Suppl S1:55-6. Available from: https://www.ijmr.org.in/text.asp?2020/152/7/55/316736

Patient's consent obtained to publish clinical information and images.


A 31 yr old male was admitted for otherwise benign, itching and burning sensation over the sun-exposed sites for two weeks in the department of Dermatology, Madras Medical College and Rajiv Gandhi Government General Hospital, Chennai, India. The patient was first presented in October 2004; since then, he was under follow up. He was diagnosed with congenital erythropoietic porphyria at the age of eight months, a severe and rare childhood porphyria causing lifelong mutilating photosensitivity and haematological disease, an autosomal recessive inherited deficiency of uroporphyrinogen III cosynthase enzyme. There were mutilating scars over the face [Figure 1], corneal opacity [Figure 2], hypertrichosis of the chest, resorption of the terminal phalanx of the extremities [Figure 3] and brown-coloured teeth and teeth, urine and skin lesions showed reddish-orange fluorescence under Wood's lamp [Figure 4] and [Figure 5]. The patient remained on regular photoprotection follow up for ulceration, photodamage, scar tissue and haemolytic anaemia. Bone marrow transplant is the only cure.
Figure 1: Clinical photograph demonstrating mutilating scars over the face.

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Figure 2: Clinical photograph demonstrating corneal opacity.

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Figure 3: Clinical photograph demonstrating shortening of fingers and mutilating scars over the hand.

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Figure 4: Wood's lamp photograph demonstrating erythrodontia.

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Figure 5: Wood's lamp photograph of the patient's urine demonstrating red-orange fluorescence.

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Conflicts of Interest: None


    Figures

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



 

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