Clinical evaluation and molecular screening of a large consecutive series of albino patients.

Oculocutaneous albinism (OCA) is characterized by hypopigmentation of the skin, hair and eye, and by ophthalmologic abnormalities caused by a deficiency in melanin biosynthesis. In this study we recruited 321 albino patients and screened them for the genes known to cause oculocutaneous albinism (OCA1-4 and OCA6) and ocular albinism (OA1). Our purpose was to detect mutations and genetic frequencies of the main causative genes, offering to albino patients an exhaustive diagnostic assessment within a multidisciplinary approach including ophthalmological, dermatological, audiological and genetic evaluations. We report 70 novel mutations and the frequencies of the major causative OCA genes that are as follows: TYR (44%), OCA2 (17%), TYRP1 (1%), SLC45A2 (7%) and SLC24A5 (<0.5%). An additional 5% of patients had GPR143 mutations. In 19% of cases, a second reliable mutation was not detected, whereas 7% of our patients remain still molecularly undiagnosed. This comprehensive study of a consecutive series of OCA/OA1 patients allowed us to perform a clinical evaluation of the different OCA forms.

Successful management of deep facial burns in a patient with extensive third-degree burns: the role of a nanocrystalline silver dressing in facilitating resurfacing.

Full-thickness burns of the face are notoriously difficult to repair and their management poses a series of problems to the surgeon. We present the case of a 49-year-old man (only survivor of a catastrophic airport accident) with third-degree flame burns to >80% of total body surface area and extensive face damage who achieved a fully satisfactory outcome after a treatment plan based on gradual escharectomy followed by application of artificial dermis and, later, grafting with sheets of cultured keratinocytes. Re-epithelialisation was already visible at day 16 after admission and all facial wounds were closed by day 56, the treatment continuing on the scalp. Within 6 months of the accident, the patient had recovered functional and cosmetic features (including re-growth of skin appendages) that were beyond expectations. The use of nanocrystalline silver-coated dressings during the escharectomy and resurfacing phases was important, as part of a multifaceted strategy, in ensuring excellent antimicrobial control, thus avoiding the need for autologous grafting and contributing to a rapid healing and complete restoration of the face and head skin.