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 114
- Downloads 0
The Correlation between Malondialdehyde Level with Vitiligo Severity
Background: Vitiligo is an idiopathic disorder characterized by macular hypopigmentation due to melanocyte impairment and the absence of melanin production. There is an antioxidant-prooxidant ratio shift involved in oxid...
The Consistency between Neutrophilic Alopecia in Clinical Form and Confirmation of Histology in Patients
Alopecia has two types: Citacricial Alopecia and Non-Citacricial Alopecia. In Citacricial Alopecia, epithelium follicles are replaced by connective tissue which is irreversible. Non-Citacricial Alopecia is reversible and...
Psoriasis: The Immune System Disease with Unknown Etiology Treated with Local Bath PUVA
Psoriasis is a chronic and lifetime disease which relates to the immune system, having unknown etiology. It typically emerges with dermal disorders and sometimes with joint disorders. Psoriasis Palmoplantar is a kind of...
Unusual Presentation of Facial Porokeratosis: Dermoscopic Findings and Evolution
The term porokeratosis refers to a group of genetic dermatoses characterized by the histological presence of cornoid lamellae. Here, we report the case of a 12-year-old female with an unusual facial form of the disease t...
Drug Induced Onycholysis
Drug-induced onycholysis is a rare, unpredictable, but severe event, whose pain and discomfort is hardly affordable, impairing manual activities or ambulation. Patient’s quality of life might be severely compromised, and...