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Year : 2013  |  Volume : 58  |  Issue : 5  |  Page : 412
Dark age vampires or our poor patients


1 Department of Paediatrics, Dr. Rajendra Prasad Government Medical College and Hospital, Tanda, India
2 Department of Dermatology, Dr. Rajendra Prasad Government Medical College and Hospital, Tanda, India
3 Department of Orthopaedics, Dr. Rajendra Prasad Government Medical College and Hospital, Tanda, India

Date of Web Publication30-Aug-2013

Correspondence Address:
Seema Sharma
H No 23, Type 5, Block B, Dr Rajendra Prasad Government Medical College and Hospital, Tanda
India
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Source of Support: None, Conflict of Interest: None


PMID: 24082237

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How to cite this article:
Sharma S, Chauhan PS, Sharma V, Sharma N L. Dark age vampires or our poor patients. Indian J Dermatol 2013;58:412

How to cite this URL:
Sharma S, Chauhan PS, Sharma V, Sharma N L. Dark age vampires or our poor patients. Indian J Dermatol [serial online] 2013 [cited 2020 Jul 13];58:412. Available from: http://www.e-ijd.org/text.asp?2013/58/5/412/117375


A 10-year-old child, born of first degree consanguineous marriage, presented with photosensitivity and recurrent blistering on exposed areas that used to heal with scarring along with passing red color urine since the age of 1 year. Mental and physical development was normal. Family history for this disease was negative. There was no history of acute neurological attacks.

On examination there were areas of hyperpigmentation, hypertrichosis, and atrophic scars on the face with retraction of the perioral region. He also had fibrotic changes of the ears and nose [Figure 1] and [Figure 2]. The hands showed intense hypertrichosis and shortening of the distal phalanx (so-called werewolf hands) [Figure 3]. The teeth were chestnut color stained and revealed a pinkish red fluorescence under Wood's lamp. Severe anemia, congestive cardiac failure, and massive splenomegaly were present.
Figure 1: Hyperpigmentation, hypertrichosis, sclerodermiform changes and hyperkeratosis in sun - exposed areas

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Figure 2: Fibrosis of exposed skin and microstomia

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Figure 3: Hypertrichosis and initial acrosclerosis (so - called werewolf hand)

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Investigations revealed severe anemia (Hb 2.0 g/dL) with a normal urine porphobilinogen (PBG). On screening with a spectrophotometer, urinary total porphyrin was 1064 nmol/mmol of creatinine (normal < 35 nmol/mmol). Twenty-four-hour urinary levels of uroporphyrin and coproporphyrin were raised. The erythrocytic porphyrins showed a level of 1132 μg/100 mL (reference value less than 40 μg/100 mL using the hematofluorometric method). Patient was treated symptomatically.


   Question Top


  1. What is the diagnosis?
  2. What is the pathology behind the condition?
  3. What are the mimickers and how can they be differentiated?
  4. What should be the management strategy for the condition?


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   References Top

1.Bickers DR, Frank J. The Porphyrias. In: Wolff K, Goldsmith LA, Katz SI, Gilchrest BA, Paller AS, Leffell DJ, editors. Fitzpatrick's Dermatology in General Medicine. 7 th ed. New York: McGraw Hill; 2008. p. 1228-56.  Back to cited text no. 1
    
2.Fritsch C, Bolsen K, Ruzicka T, Goerz G. Congenital Erythropoietic Porphyria. J Am Acad Dermatol 1997;36:594-610.  Back to cited text no. 2
[PUBMED]    
3.Deacon AC, Elder GH. ACP Best Practice No 165: Front line tests for the investigation of suspected porphyria. J Clin Pathol 2001;54:500-7.  Back to cited text no. 3
[PUBMED]    
4.Pandhi D, Suman M, Khurana N, Reddy BS. Congenital erythropoietic porphyria complicated by squamous cell carcinoma. Pediatr Dermatol 2003;20:498-501.  Back to cited text no. 4
[PUBMED]    
5.Koley S, Saoji V. Congenital erythropoietic porphyria: Two case reports. Indian J Dermatol 2011;56:94-7.  Back to cited text no. 5
[PUBMED]  Medknow Journal  


    Figures

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



 

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