UV-triggered syndrome of Gougerot-Carteaud - mechanical damage or immunological reaction

Papillomatosis papulosa confluens reticulata et pigmentata is a rare dermatosis that presents clinically with pigmented, papillomatous, hyperkeratotic plaques with central confluence and reticulated peripheral pattern. The etiology remains unclear but current data points to a keratinization defect as the main pathological mechanism. There is one case report in the literature of a UV-induced Papillomatosis papulosa confluens reticulata et pigmentata. We present a 16-year old patient with clinical and histological diagnosis of confluent and reticulated papillomatosis. The characteristic lesions involved sun-exposed areas and developed after intense sun exposure. As an etiologic factor, ultraviolet light may lead to mechanical epidermal damage and further keratinization modification. On the other hand, in the setting of genetically predetermined resistance to UV-immunosuppression mechanisms, the newly formed epidermal antigens could potentially trigger an immune reaction resulting in skin eruption.Scripta Scientifica Medica 2013; 45(4): 88-91

Acute generalized exanthematous pustulosis (AGEP): a literature review

Acute generalized exanthematous pustulosis (AGEP) is a rare drug-induced pustular cutaneous reaction. The clinical course is characteristic with a sudden onset of multiple sterile pustules on an erythematous base with fever and neutrophilia, followed by a spontaneous resolution within two weeks. Drug-specific T cells play the main role in the pathogenesis, but the exact cytokine cascade and genetic background are yet to be elucidated. Timely and exact recognition is important in order to prevent confusion with infections and psoriasis and hence institution of unnecessary and wrong treatments. The diagnosis may be confirmed by typical history, identification of a culprit drug, histopathology and patch testing. The purpose of this review is to present the current knowledge on AGEP and its association with various drugs in the context of a drug allergic reaction.Scripta Scientifica Medica 2013; 45(4): 7-12

Systematized epidermolytic epidermal nevus (ichthyosis hystrix)

Ichthyosis hystrix is a term used to describe an autosomal dominant rare form of an ichthyosiform dermatosis which is characterized by hyperkeratotic spiny scales. We present a healthy 22-year-old man with lesions which clinically and histopathologically corresponded to the rare inherited disorder ichthyosis hystrix

Acquired Ulcero-Mutilating Bilateral Acro-Osteopathy (Bureau-Barrière Syndrome)

We present a 35-year-old male patient with Bureau-Barrière syndrome. Bureau-Barrière syndrome is an ulcero-mutilating acropathy almost invariably associated with excessive alcohol intake. It presents with a triad of trophic skin changes with recurrent ulcerations, bone lesions and nerve damage. The clinical presentation includes chronic painless plantar ulcerations with periulcerous hyperkeratosis, hyperhidrosis, livedoid skin colour, nail dystrophy, widening and infiltration of the toes and common interdigital mycoses. Other non-specific skin changes related to the alcohol consumption are commonly observed as well. The condition affects mainly middle-aged men suffering from alcoholism. Often a bilateral location at the lower limb of male alcoholics has been described, as in our patient. Successful treatment of the Bureau-Barrière syndrome requires an interdisciplinary approach. Cessation of alcohol intake and smoking is of paramount importance

Eosinophilic fasciitis - a diagnosis to consider. case report and review of the literature

Eosinophilic fasciitis is a rare sclerodermatous dis order with controversial etiology and pathogenesis. Constellation of clinical features and laboratory abnormalities establishes the di agnosis: deep induration of the subcutaneous tissue, flexion joint contractures, high eosinophil count in blood and bone marrow, characteristic histologic find ings, arthralgia, myalgia, negative visceral involvement, negative Raynaud phenomenon, history of excessive physical exercise, therapeutic sensitivity to corticosteroids and characteristic MRI findings. The main stay of treatment are systemic corticosteroids and early intervention is usually effective with a benign course of the disease. Refractory cases may require immunosuppressive or alternative agents.Scripta Scientifica Medica 2010;42(1):11-1

Infantile Haemangiomas: Epidemiological Characteristics and Management Approach // Хемангиоми в кърмаческа и детска възраст – епидемиологични характеристики и терапевтично поведение

Haemangiomas are the most common benign tumours in children up to the age of 1 year, affecting approximately 4-5 to 10% of those born in normal gestational age and up to 30% of premature infants. They are characterized by three well-defined stages of evolution with different clinical characteristics: rapid proliferative stage, stage of a stable state and slow spontaneous regression. The different morphological characteristics of the lesion in different stages require a treatment approach that is specific to the stage. Haemangiomas usually occur in the first days or weeks after birth and until the 9th year undergo spontaneous resolution in about 90% of patients. Despite their benign nature and expected resolution, in 40-50% of patients, at the site of the haemangioma, remain telangiectasia, discolouration, fibrofatty tissue, atrophic wrinkling of the skin or scarring. In some patients, the haemangiomas in the active phase are associated with functional and/or life-threatening complications. The revolutionary development of the understanding of the pathological cascade of infantile haemangiomas and the introduction of innovative, highly effective and safe therapy, as well as the lack of data on haemangiomas in the Bulgarian population, motivated the development of a series of studies on the aetiology and therapy of infantile haemangiomas. The results of our studies related to this thesis help clarify the role of risk factors for the development of haemangiomas, establish the efficacy of treatment with topical P-blockers, and determine the impact of infantile haemangiomas on family life.Хемангиомите са най-често срещаните доброкачествени тумори при деца на възраст до 1 година, като засягат приблизително 4-5 до 10% от родените в нормална гестационна възраст и до 30% от недоносените кърмачета. Характеризират се с три добре отграничени фази на развитие с различни клинични характеристики: бърза пролиферативна фаза, фаза на стабилно състояние и бавна спонтанна регресия. Различните морфологични характеристики на лезията в различните стадии налагат специфичен подход на лечение спрямо фазата. Хемангиомите обикновено се появяват в първите дни или седмици след раждането и до 9-тата година претърпяват обратно развитие при около 90% от пациентите. Въпреки доброкачествения си характер и очакваното обратно развитие, при 40-50% от пациентите на мястото на хемангиома остават телангиектазии, промяна в цвета, фиброзно-мастна тъкан, атрофично набръчкване на кожата или цикатрикси, а при част от пациентите хемангиомите в активната фаза са свързани с функционални и/или животозастрашаващи усложнения. Революционното развитие на разбирането на патологичната каскада на детските хемангиоми и въвеждането на иновативна високо ефективна и безопасна терапия, както и липсата на данни за хемангиомите в българската популация, мотивираха разработването на серия от проучвания за етиологията и терапията на хемангиомите в кърмаческа и детска възраст. Резултатите от нашите проучвания, обект на този дисертационен труд, спомагат за изясняване на ролята на рисковите фактори за разните на хемангиоми, за установяване на ефекта от лечение с локални Р-блокери и за определяне на ефекта, който детските хемангиоми оказват върху живота на семейството

Aquagenic keratoderma. Two new case reports and a new hypothesis

Aquagenic keratoderma has been described as a transient condition affecting predominantly young females and defined clinically by the appearance of palmar hyper-wrinkling accentuated after immersion in water. We present two new cases with aquagenic palmoplantar acrokeratoderma - a child and a young male. A significant clinical improvement was achieved after topical treatment with aluminum salts. Aquagenic palmar keratoderma may be a clue to cystic fibrosis in adolescents and young adults. We developed a new hypothesis on its pathogenesis