Erythropoietic Protoporphyria. A Major Skin Involvement
Journal Title: Clinical Dermatology Open Access Journal - Year 2017, Vol 2, Issue 4
Abstract
Erythropoietic Protoporphyria (EPP) is a relatively rare disease [1], probably less so than the rare acute intermittent porphyria. Virtually all patients with EPP are symptomatic as young children. For example, a 10-year old boy was referred to me, a porphyria specialist, because of cutaneous photosensitivity since infancy. With sun exposure, his skin quickly developed tingling and subsequently swelling, petechiae, burning, stinging, erythema and pain, and rarely potential lethal liver dysfunction. In general, affected patients, including this boy, avoid being outside or with the sun. When outside, they often wear total-body clothes to avoid body exposure to sun and/or heat. Ultimately, they lead, without treatment, to scarring and resorption of the nose, auricles and fingers. The few physicians who specialize in the porphyrias do encounter them relatively frequently. I have seen many youngsters and adults with this syndrome, and have advised and treated them regarding probably preventive EPP therapy.
Authors and Affiliations
Tishler PV
Keywords
Related Articles
- EP ID EP288559
- DOI 10.23880/cdoaj16000121
- Views 111
- Downloads 0
Effect of Soy Isoflavones on the Improvement of Acne Vulgaris Severity by Reducing Tumor Necrosis Factor- Levels
Objective: To demonstrate the effect of soy isoflavone on acne vulgaris (AV) severity by reducing tumour necrosis factor- (TNF-) in female patients. Methods: In this study was a clinical study with randomized controled...
A Case Report on Cetirizine Induced Urticaria
Cetirizine, anti-histamine is a widely used OTC medication for the treatment of hypersensitivity reactions like urticaria. Cetirizine induced hypersensitivity reactions are rarely reported. Here is a case of cetirizine i...
Pseudoxanthoma Elasticum and its Rare Co-Existence with Comedones and Neurofibroma
A 68 year old male patient, presented with multiple asymptomatic elevated skin lesions over the face, V area of neck since last 40 years. Physical examination revealed numerous open comedones all over the face, forehead...
Proliferating Trichilemmal Tumor Presenting as a Scrotal Mass in a Middle-Aged Male: An Uncommon Location
Scrotal masses encompass a heterogenous group of conditions affecting the skin and soft tissue of the scrotum or underlying testis, ranging from benign to malignant and from indolent to conditions requiring urgent medica...
Marjolin’s Ulcer
Marjolin’s ulcers are skin cancers developing on preexisting chronic inflammatory skin lesions. Most common histology is squamous cell carcinoma followed by basal cell carcinoma and malignant melanoma. Rarely fibrosarcom...