Porphyria Cutanea Tarda (PCT)

Case Report

A Case Report. J Dent & Oral Disord. 2018; 4(2): 1089.

Porphyria Cutanea Tarda (PCT)

Daya S¹*, Joe CL¹, Senthil E¹ and Satish S²

¹Department of Pedodontia & Preventive Dentistry, Chettinad Dental College & Research Institute, TN Dr MGR Medical University, India

²Department of Oral Medicine & Radiology, Chettinad Dental College & Research Institute, TN Dr MGR Medical University, India

*Corresponding author: Srinivasan Daya, Department of Pedododntia & Preventive Dentistry, Chettinad Dental College & Research Institute, TN MGR Medical University, India

Received: January 08, 2018; Accepted: February 12, 2018; Published: February 23, 2018


Porphyria is caused by deficiency in enzyme causing heme synthesis. A case of Porphyria cutaneatarda with hyper pigmentation, fragile oral mucosa, restricted mouth opening and a painful tooth which required treatment is presented here.

Keywords: Porphyria; Dental treatment; Lignocaine; Heme


Porphyrias are group of metabolic disease caused by deficiencies of 7 sequential enzymes in the synthesis of haem. Enzyme deficiencies result in accumulation of intermediate porphyrins in tissues and their excess are excreted in urine or stool [1,2]. Porphyrins are phototoxic molecules, hence accumulation in tissues cause phototoxic reaction on exposure to light. This phototoxicity causes cutaneous lesions by generation of oxygen reactive molecules.

Based on location of excess porphyrin, it can be classified as

1. Erythropoieticporphyrias - Congenial Erythropoietic Porphyria (CEP) ,ErythropoieticProtoporphyria (EPP)

2. Hepatic porphyrias : Porphyria cutaneatarda, Hepatoerythropoietic porphyria HEP,Variegate Porphyria (VP) and Hereditary Coproporphyria (HCP)

PCT results because of inactivation of hepatic Uroporphyrinogendecarboxylase (URO-D) enzyme [3,4]. With the exception of congenital erythropoietic porphyria (CEP), which is autosomal recessive, all other porphyrias are inherited as autosomal dominant disorders. In CEP teeth discoloration is a specific clinical sign called erythrodontia. The tooth appears as bright red flourescent under Wood’s light illumination [5].

Case Presentation

A 14 year old girl came to Department of Pedodontia & Preventive Dentistry with complaint of painful tooth on lower left back side of the tooth for past 7 days. Patient had been unable to chew any food and had been taking only semisolid food for past 2 months. On history it was found that the girl was born out of non consanguineous marriage, skin lesions were present from birth. No one else in the family had been affected. There was no history of jaundice. Skin lesions were not associated with fever or joint pain. Wounds healed without scarring. Lesions were not associated with thickening of the skin on soles and palms. There was no difficulty in swallowing or breathing. Urine had been dark orange yellow color from birth. No abdominal discomfort was present. No discolouration of primary teeth was present previously.

On physical examination, blisters were noticed on sun exposed areas of the skin and found to be fragile. Crusting followed by healing was present in many areas of hand. Hyperpigmentation, were noticed in many areas of the body (Figure 1, 2). There was absence of malar rash. On intra oral examination, mouth opening was restricted to 25mm. The buccal mucosa was fragile, alveolar mucosa was inflammed, reddish and on lower left side bleeding was noticed from the gingiva. Retraction of buccal mucosa was itself very painful and evoking bleeding from the retracted site. Lower left first permanent molar (36) had decay involving the pulp. Oral pantomogram showed radiolucency involving the pulp of 36. (Figure 3) Calcification of mesial canal of 36 was noticed. There was generalized calcification of pulp canal space of lower teeth. It was decided that permanent first molar needed a root canal treatment. Blood investigations revealed 8.1gm% of Hemoglobin with normal ferritin levels. There was increased urinary uroporphyrin level and isoproporphyrin in stool.