Congenital erythropoeitic porphyria: Challenges in provision | 60827

जर्नल ऑफ़ डेंटल रिसर्च एंड प्रैक्टिस


Congenital erythropoeitic porphyria: Challenges in provision of oral healthcare

Pavan Manohar Patil

Congenital erythropoeitic porphyria (CEP) is a rare, autosomal recessive disorder resulting from the deficiency of uroporphyrinogen III synthase enzyme. The spectrum of the disorder manifests itself as hematological abnormalities, cutaneous photo sensitivity and striking orofacial features. The oral healthcare provider is in many instances the first to identify features leading to the diagnosis of CEP. Multitude of physical and oral abnormalities makes the provision of oral health care in affected individuals challenging. The most important aspect of oral healthcare in affected individuals is the prevention of an acute porphyric attack. Knowledge of the various drugs used in oral healthcare provision is paramount to manage an individual with CEP. Specialist referral and multidisciplinary care must be considered when appropriate. This article provides the oral healthcare provider a state-of-the-art review of the condition, its manifestations, pathophysiology, diagnosis, medical management and oral healthcare management. Armed with this knowledge, oral healthcare providers may successfully diagnose and manage CEP patients in their practice.