Generic selectors
Exact matches only
Search in title
Search in content
Search in posts
Search in pages
Filter by Categories
15th National Conference of the IAOMFP, Chennai, 2006
Abstract
Abstracts from current literature
Acne in India: Guidelines for management - IAA Consensus Document
Addendum
Announcement
Art & Psychiatry
Article
Articles
Association Activities
Association Notes
Award Article
Book Review
Brief Report
Case Analysis
Case Letter
Case Letters
Case Notes
Case Report
Case Reports
Clinical and Laboratory Investigations
Clinical Article
Clinical Studies
Clinical Study
Commentary
Conference Oration
Conference Summary
Continuing Medical Education
Correspondence
Corrigendum
Cosmetic Dermatology
Cosmetology
Current Best Evidence
Current View
Derma Quest
Dermato Surgery
Dermatopathology
Dermatosurgery Specials
Dispensing Pearl
Do you know?
Drug Dialogues
e-IJDVL
Editor Speaks
Editorial
Editorial Remarks
Editorial Report
Editorial Report - 2007
Editorial report for 2004-2005
Errata
Erratum
Focus
Fourth All India Conference Programme
From Our Book Shelf
From the Desk of Chief Editor
General
Get Set for Net
Get set for the net
Guest Article
Guest Editorial
History
How I Manage?
IADVL Announcement
IADVL Announcements
IJDVL Awards
IJDVL AWARDS 2015
IJDVL Awards 2018
IJDVL Awards 2019
IJDVL Awards 2020
IJDVL International Awards 2018
Images in Clinical Practice
In Memorium
Inaugural Address
Index
Knowledge From World Contemporaries
Leprosy Section
Letter in Response to Previous Publication
Letter to Editor
Letter to the Editor
Letter to the Editor - Case Letter
Letter to the Editor - Letter in Response to Published Article
LETTER TO THE EDITOR - LETTERS IN RESPONSE TO PUBLISHED ARTICLES
Letter to the Editor - Observation Letter
Letter to the Editor - Study Letter
Letter to the Editor - Therapy Letter
Letter to the Editor: Articles in Response to Previously Published Articles
Letters to the Editor
Letters to the Editor - Letter in Response to Previously Published Articles
Letters to the Editor: Case Letters
Letters to the Editor: Letters in Response to Previously Published Articles
Medicolegal Window
Messages
Miscellaneous Letter
Musings
Net Case
Net case report
Net Image
Net Letter
Net Quiz
Net Study
New Preparations
News
News & Views
Obervation Letter
Obituary
Observation Letter
Observation Letters
Oration
Original Article
ORIGINAL CONTRIBUTION
Original Contributions
Pattern of Skin Diseases
Pearls
Pediatric Dermatology
Pediatric Rounds
Perspective
Presedential Address
Presidential Address
Presidents Remarks
Quiz
Recommendations
Regret
Report
Report of chief editor
Report of Hon : Treasurer IADVL
Report of Hon. General Secretary IADVL
Research Methdology
Research Methodology
Resident page
Resident's Page
Resident’s Page
Residents' Corner
Residents' Corner
Retraction
Review
Review Article
Review Articles
Revision Corner
Self Assessment Programme
SEMINAR
Seminar: Chronic Arsenicosis in India
Seminar: HIV Infection
Short Communication
Short Communications
Short Report
Special Article
Specialty Interface
Studies
Study Letter
Supplement-Photoprotection
Supplement-Psoriasis
Symposium - Contact Dermatitis
Symposium - Lasers
Symposium - Pediatric Dermatoses
Symposium - Psoriasis
Symposium - Vesicobullous Disorders
SYMPOSIUM - VITILIGO
Symposium Aesthetic Surgery
Symposium Dermatopathology
Symposium-Hair Disorders
Symposium-Nails Part I
Symposium-Nails-Part II
Tables
Technology
Therapeutic Guidelines
Therapeutic Guidelines - IADVL
Therapeutics
Therapy
Therapy Letter
View Point
Viewpoint
What’s new in Dermatology
Case Report
2003:69:7;26-27

Erythropoietic protoporphyria

T Salim, SD Shenoi, A Sandra
 Department of Skin & STD Kasturba Medical College, Manipal, Karnataka-576 119, India

Correspondence Address:
S D Shenoi
Department of Skin & STD Kasturba Medical College, Manipal, Karnataka-576 119
India
How to cite this article:
Salim T, Shenoi S D, Sandra A. Erythropoietic protoporphyria. Indian J Dermatol Venereol Leprol 2003;69:26-27
Copyright: (C)2003 Indian Journal of Dermatology, Venereology, and Leprology

Abstract

Erythropoietic protoporphyria (EPP) is an inherited inborn error of porphyrin metabolism which manifests as variable degree of photosenitivity. We report a case of EPP presenting with severe photosensitivity and extensive scarring of 23 years duration without systemic involvement.
Keywords: Erythropoietic Protoporphyria, Photosenitivity

Introduction

Erythropoietic protoporphyria (EPP) is an inherited inborn error of porphyrin metabolism caused by decreased activity of the enzyme ferrochelatase, the terminal enzyme in the haem biosynthetic pathway, which catalyses the insertion of iron into protoporphyrin to form haem.1 Magnus et al[2] in 1961, were the first to characterize and name erythropoietic protoporphyria. They described a 35 year old man with a 27 years history of intense pruritus of exposed skin shortly after sun exposure. The first known case of EPP was described in 1926 as having ′hydroa aestivle without haematoporphyrinuria′.[2] Haeger-Aronson described the familial nature of EPP in 1963 by reporting three cases and two carriers in 3 generations of a family.[3]

Ferrochelatase occur in all nucleated cells, but mainly in the erythroid cells, since most of the haem is synthesized here for assembly into haemoglobin. Therefore bone marrow accounts for majority of protoporphyrin over production in EPP. Liver also contributes approximately 20% of excess protoporphyrin.[1] EPP manifests as variable degree of photosenitivity developing in childhood. We report a case of EPP presenting with severe photosensitivity and scarring.

Case Report

A 32-year-old man born out of nonconsanguinous marriage, presented with recurrent fluid filled lesions healing with scarring and pigmentation of 23 years duration. Hit complaint started at the age of 9 years as erythema and burning sensation over exposed areas with in one to four hours of sun exposure. He developed vesicles over exposed areas which ruptured within two to three days and healed with scarring and pigmentation in a reticulate pattern. Over next 2-3 years trunk was also involved. However the lesions reduced in severity and showed gradual improvement over years. There was no history of passing red coloured urine, any dental or skeltal abnormalities, mental retardation, epilepsy, photophobia, cataract, hearing defects, any systemic illness or similar complaints in the family.

Cutaneous examination revealed poikilodermatous skin changes consisting of hypo and hyperpigmentation and pitted scars scattered mainly over the photoexposed areas and upper trunk with few pustules [Figure - 1]. Sclerodermoid thickening of skin was evident over the dorsal aspect of the hands, forearms and the face. There was no telengiectasia or hypertrichosis over these areas. Palms and soles were spared. There was associated pallor.

Complete blood picture revealed low haemoglobin level of 6.5gm%. ESR was 150mm/hr. Peripheral smear showed normocytic normochromic anaemia. Urine examination, liver function tests, renal function tests, blood sugar levels, chest X-ray and ultrasound abdomen were normal. Serum immunoglobulin estimation showed elevated IgG and IgA levels with normal IgM level. Porphyrin estimation revealed very high protoporphyrin levels in RBC and stool with negative urinary porphyrins. Histopathology of skin taken from the dorsum of the hand showed hyperkeratosis, elongated rete ridges, mild pigment incontinence and perivascular lymphocytic infiltrate. Biopsy from the nail bed showed numerous hyphae and fungal spores on PAS staining.

Patient was treated with beta-carotene, haematinics and topical sunscreen with mild improvement.

Discussion

EPP is an autosomal dominant or autosomal recessive photodermatosis with variable penetrance.[1] Sporadic cases have also been reported. There is decreased activity of ferrochelatase enzyme up to 10-30% of the normal.[4] Protoporphyrin strongly absorbs light energy at 400-410nm (soret band). The absorbed light energy raises the ground state orbital electrons of proptoporphyrins to their excited singlet state. The excited molecule either emits fluoresce energy on biomolecules to bring about tissue damage directly or, tranfer the exciation energy to ground state molecular oxygen to produce reactive oxygen species which in turn produce tissue damage.[1]

EPP usually starts around 4 years of age, rarely between 8 and 21 years, characterized by immediate type of phototoxic reaction.[4] Symptoms occur within few minutes to one hour after sun exposure as oedematous urticarial erythematous plaques and eczematous lesions, with rarely vesicles, purura and crusted erosions. Repeated episodes result in mild to moderate scarring and sclerodermoid changes. Hypertrichosis is infrequent. Symptoms usually improve by 10-11 years. Less than 10% of patients develop servere liver failure. Cholelithiasis is often encountered with EPP and the gallstones are predominantly made of protoporphyrins.

Histopathology of EPP shows markedly thickened papillary dermal capillary walls and an amorphous, hyaline material deposited perivascularly and scattered throughout the dermis.4 Since protoporphyrin is a hydrophobic molecule, it is not soluble in water. Hence not present in the urine. Tratment modalities include avoidance of sun exposure, topical sunscreens and oral beta-carotene. Other modalities include PUVA and UVB therepy, oral cysteine, oral pyridoxine and antihistaminics. Oral cholestyramine resin, cholic acid, chenodeoxycholic acid are tried in cases with hepatic involvement. Liver transplantation is indicated as a last resort.[5] Shafi M et al,[6] in a series of three cases from Libya reported significant scarring in all the patients while deLeo et al7 reported scarring in only 19% of the cases.

In our case the high erythrocyte and stool protoporphyrin levels with negative urinary porphyrins associated with potosensitivity clinched the diagnosis of EPP. Our patient had delayed onset of disease with only persistent cutaneous involvement and anaemia without hepatic involvement.

References
1.
Todd DJ. Erythropoietic protoporphyria. Br J Dermatol 1994; 131:751-766.
[Google Scholar]
2.
Magnus IA, Jarrett A, Prankerd TAJ, etal Erythtopoietic protoporphyria : a new porphyria syndrome with solar urticaria due to portoporphyrinamea. Lancet 1961;2:448-451.
[Google Scholar]
3.
Haeger AB. Erythropoietic protoporphyria. A new type of inborn error of metabolism. Am J Med 1963 ; 356:450-454.
[Google Scholar]
4.
Arndt KA, Leboit PE, Robinson JK, etal. Cutaneous Medicine and Surgery, W.B. Saunders Company 1996; 1753-1762.
[Google Scholar]
5.
Mascaro JM. Management of erythropoietic protoporphyrias Photodermatol Photoimmunol Photmed. 1998; 14:44-45.
[Google Scholar]
6.
Shafi M, Khatri ML. Erythropoietic protoporphyria (report of three cases). Indian J, Dermatol Venereol Leprol 1995; 61:320-322.
[Google Scholar]
7.
DeLeo VA, Poh-Fitzpatrick M, Mathews Roth M, Harber LC. Erythropoitic protoporphyria. Am J Med 1976; 60:8-21.
[Google Scholar]
Show Sections