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1.
Dermatol Ther (Heidelb) ; 13(11): 2879-2893, 2023 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-37731087

RESUMEN

BACKGROUND: The Infants and Toddlers Dermatology Quality of Life (InToDermQoL) is the dermatology-specific proxy health-related quality of life (HRQoL) instrument for children from birth to 4 years. The aim of the present study was to confirm the responsiveness and establish minimal clinically important difference (MCID) for the InToDermQoL. METHODS: Parents of children with skin diseases were asked to fill in the InToDermQoL at the initial visit (T1) and subsequent consultation (T2). We hypothesized that correlations between change scores of the InToDermQoL and change scores of global assessment of clinical severity by dermatologists and by patients' parents should be above 0.3. The receiver operating characteristic (ROC) curves method was also used for confirmation of responsiveness and determination of MCIDs of the InToDermQoL. The area under the ROC curve (AUC) was used as an indicator of responsiveness. RESULTS: Results of 442 patients were included. Correlations between change scores of age-specific versions of the InToDermQoL and change scores of global assessment of clinical severity by dermatologists and by patients' parents were above 0.3 (0.46-0.74). AUCs for age-specific versions of the InToDermQoL were acceptable (above 0.7) or excellent (above 0.8). Estimated MCIDs for the InToDermQoL were as follows: 3 points of total score change for 0-11 months, 5 for 1-2 years and 3 or 4 for 3-4 years version. Estimated MCIDs for the InToDermQoL version for 1-2-year-old children was higher than MCIDs for the 3-4-year-old version despite the higher number of items in the latter. Therefore a MCID of 5 was recommended for both these versions. CONCLUSIONS: Responsiveness for all age-specific versions of the InToDermQoL questionnaire was confirmed. MCIDs for the InToDermQoL are proposed as follows: 3-point change of the total score for age version 0-11 months and 5-point for the age versions 1-2 years and 3-4 years.

2.
JAAD Int ; 10: 61-67, 2023 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-36688100

RESUMEN

Background: The Infants and Toddlers Dermatology Quality of Life (InToDermQoL) questionnaire is the first dermatology-specific proxy health related QoL instrument for children from birth to 4 years. Score meaning bands and the sensitivity to successful therapeutic intervention are important to interpret the clinical meaning of an instrument. Objective: The aim of the present study was to check the sensitivity to successful therapeutic intervention and establish score bands of the InToDermQoL questionnaire. Methods: Parents or grandparents of 424 children with skin diseases from Spain, Malta, Croatia, Romania, Greece, and Ukraine filled in national language versions of the InToDermQoL questionnaire. Disease severity of children with atopic dermatitis was assessed by SCORAD (Scoring atopic dermatitis). Cohen's d was used to assess the responsiveness of the instrument. Results: The mean total InToDermQoL scores significantly decreased after treatment. Severity grading of the SCORAD scores gave stratification of the InToDermQoL severity grades based on 95% confidence intervals. Scores below a calculated minimal important difference of 2 corresponded to no effect on patient's health related QoL. Limitations: Score banding may be slightly different across patient population and study context. Conclusion: All 3 age-specific versions of the InToDermQoL questionnaire showed sensitivity to treatment. Score bands for the InToDermQoL questionnaire have been established.

3.
J Eur Acad Dermatol Venereol ; 37(1): 21-31, 2023 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-36259656

RESUMEN

Members of the European Academy of Dermatology and Venereology (EADV) Task Force on Quality of Life (QoL) and Patient Oriented Outcomes reviewed the instruments available for health-related (HR) QoL assessment in vitiligo and together with external vitiligo experts (including representatives of the EADV Vitiligo Task Force) have made practical recommendations concerning the assessment of QoL in vitiligo patients. The Dermatology Life Quality Index (DLQI) was the most frequently used HRQoL instrument, making comparison of results between different countries possible. Several vitiligo-specific instruments were identified. The vitiligo Impact Scale (VIS) is an extensively validated vitiligo-specific HRQoL instrument with proposed minimal important change and clinical interpretation for VIS-22 scores. VIS-22 was developed for use in India, where there are some specific cultural beliefs concerning vitiligo. The EADV Task Force on QoL and Patient Oriented Outcomes recommends use of the DLQI and the Children's Dermatology Life Quality Index (CDLQI) as dermatology-specific instruments in vitiligo. There is a strong need for a valid (including cross-cultural validation) vitiligo-specific instrument that can be either a new instrument or the improvement of existing instruments. This validation must include the proof of responsiveness.


Asunto(s)
Dermatología , Venereología , Vitíligo , Niño , Humanos , Calidad de Vida , Encuestas y Cuestionarios , Vitíligo/terapia
5.
Dermatology ; 239(2): 267-272, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-36476839

RESUMEN

BACKGROUND: Health-related quality of life (HRQoL) assessment in patients with acne is recommended by several national guidelines. There are several acne-specific HRQoL instruments. OBJECTIVES: Participants of the European Academy of Dermatology and Venereology (EADV) Task Forces (TFs) on QoL and Patient Oriented Outcomes (PO) and Acne, Rosacea, and Hidradenitis Suppurativa (ARHS) agreed to scrutinize aspects of existing acne-specific HRQoL instruments for their relevance in international study. METHODS: Consensus agreement on items related to QoL was reached after an independent assessment by seven experts from the EADV TFs on QoL and PO, and a list of 97 items was prepared and proposed to a group of acne patients. In order to have data from patients to check if any important topics were overseen, another group of acne patients from participating countries was asked to list how acne influenced different aspects of their lives. RESULTS: Based on results obtained from 601 acne patients from nine countries, most of the items and topics showed low relevance for acne patients especially during the previous month or shorter time periods. Based on percentage of relevance and factor analysis, short (6 items) and long (45 items) lists of the most relevant topics were formed. CONCLUSION: Most of the items and topics from the initial list showed low relevance for acne patients. None of the identified acne-specific HRQoL instruments contain all the items that were deemed most relevant to acne patients. For this reason, participating members of the EADV TFs on QoL and PO, and ARHs are in the process of developing a new acne-specific HRQoL instrument.


Asunto(s)
Acné Vulgar , Hidradenitis Supurativa , Rosácea , Humanos , Calidad de Vida , Comités Consultivos , Encuestas y Cuestionarios
6.
Acta Dermatovenerol Croat ; 30(2): 106-109, 2022 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-36254543

RESUMEN

Protein loss is often the result of kidney or intestinal disease (protein-losing enteropathy) and can cause a number of serious, potentially life-threatening complications such as hypotension, thrombocytosis, electrolyte imbalance, and cerebellar ischemia. Recent research suggests an association between extremely severe atopic dermatitis (AD) and allergic enteropathy. An exclusively breastfed 6-month-old infant was admitted to our institution due to failure to thrive, electrolyte imbalance, and severe AD (SCORing Atopic Dermatitis; SCORAD 40). On admission, the infant was in poor general condition, dehydrated, malnourished (bodyweight 4870 g, -3.98 z-score), with exudative erythematous morphs scattered throughout the body. Initial laboratory results showed microcytic hypochromic anemia, hypoalbuminemia, hypogammaglobinemia, thrombocytosis, hyponatremia, high values of total immunoglobulin E (IgE), and eosinophilia. Polysensitization to a number of nutritional and inhalation allergens was demonstrated, and an exclusive amino acid-based formula has been introduced into the diet. During the hospital course, the patient developed superficial thrombophlebitis and methicillin-resistant Staphylococcus aureus (MRSA) bacteremia. Eosinophilia was found in a small intestine biopsy sample. Due to severe hypogammaglobulinemia, skin infections, and bacteremia, the differential diagnosis included primary immune deficiency (STAT3 deficiency, DOCK8 deficiency, PGM3 deficiency, IPEX), but all available immunological tests were unremarkable. Exclusive amino acid-based formula diet was continued in the infant, with topical corticosteroids under wet-dressing therapy and intravenous immunoglobulin replacement therapy. With the gradual improvement of the general condition, the introduction of solid foods was started according to the findings of allergy testing. At 17 months of age, the patient gained weight and his skin status has been improving, although frequent use of topical corticosteroids was necessary. There were no infections, no anemia or thrombocytosis, and albumin and immunoglobulin supplementation were no longer required. The main mechanism of protein loss in infants with extremely severe atopic dermatitis is probably due to damaged skin, and partially due to the eosinophilic inflammation of the small intestine. Immunoglobulin loss, potentiated by physiological or transient hypogammaglobulinemia in infants, poses a very high risk for severe, potentially life-threatening infections.


Asunto(s)
Agammaglobulinemia , Bacteriemia , Dermatitis Atópica , Staphylococcus aureus Resistente a Meticilina , Trombocitosis , Corticoesteroides , Albúminas , Aminoácidos , Lactancia Materna , Dermatitis Atópica/complicaciones , Dermatitis Atópica/diagnóstico , Electrólitos , Femenino , Factores de Intercambio de Guanina Nucleótido , Humanos , Inmunoglobulina E , Inmunoglobulinas Intravenosas , Lactante
7.
Acta Dermatovenerol Croat ; 29(4): 175-183, 2021 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-36896687

RESUMEN

Fecal calprotectin (FCP) is a biomarker of intestinal inflammation and has recently been proposed as a diagnostic biomarker of food allergy (FA) in children. The aim of this study was to compare FCP level in infants and children under 4 years old with 1) atopic dermatitis (AD) with food allergy (FA) and 2) children with AD and without FA with the results in healthy controls. In total, 46 infants and children (mean age 14 months ± 12) diagnosed with AD were divided into two groups: G1, children with atopic AD with FA (n=28) and G2, children with AD without FA (n=18). The control group (G3) was made up of healthy children of the same age (n=18). The median FCP was significantly higher in G1 compared with G2 (G1: median 154, IQR 416 µg/g vs G2: median 41.3, IQR 59 µg/g; P=0.0096). The median FCP in children with AD and FA was significantly higher before elimination diet in comparison with FCP after 3 months of elimination diet (median 154, IQR 416 µg/g vs median 35, IQR 23 µg/g; P=0.0039). The level of FCP was significantly positively correlated with the SCORAD score (r=0.5544, P=0.0022). Our study showed a significant difference in level of FCP in patients with AD without FA compared with patients with AD and FA. We also found a positive correlation of FCP with SCORAD score, a biomarker of AD severity. New studies are needed to investigate the role of FCP as a biomarker of FA in children with AD.


Asunto(s)
Dermatitis Atópica , Hipersensibilidad a los Alimentos , Lactante , Niño , Humanos , Preescolar , Dermatitis Atópica/diagnóstico , Complejo de Antígeno L1 de Leucocito , Hipersensibilidad a los Alimentos/complicaciones , Hipersensibilidad a los Alimentos/diagnóstico , Gravedad del Paciente , Biomarcadores
8.
Acta Dermatovenerol Croat ; 29(4): 238-240, 2021 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-36896697

RESUMEN

We present a case of a 10-year-old boy with a longstanding history of seborrheic dermatitis (SD) referred to the Allergy and Immunology Department for recurrent Kaposi varicelliform eruption (KVE) secondary to herpes simplex 1 (HSV-1) infection and possible primary immunodeficiency. The patient was the second child of non-consanguineous parents, with an older, healthy brother. Family history was negative for primary immunodeficiency and skin disorders. The patient's skin problems began in infancy when he was diagnosed and treated by a dermatologist for SD. From preschool age, he was under the care of a pediatric neurologist and a defectologist for a sensory processing disorder. For the last two years, the patient had been receiving chlorpromazine therapy for aggressive behavior. The first episode of KVE was diagnosed at the age of six, following potent topical corticosteroid therapy for SD and sun exposure, another known risk factor for HSV infection. After the third KVE episode, prophylaxis with oral acyclovir was initiated. The skin changes were treated with topical steroids and oral antibiotics during disease flares, with poor clinical response. On presentation, the patient was in good general health, adipose, and of unremarkable somatic status, except for numerous symmetrical yellowish-brown keratotic papules and plaques on the forehead, cheeks, and the lateral side of the neck (Figure 1). The nail plate had multiple red and white longitudinal streaks and V-shaped notches on the distal free end of the nail plate (Figure 2). The allergy tests revealed increased total immunoglobulin E (IgE) and sensitization to ragweed. Immunological workup showed normal immunoglobulins and good specific immunity (good vaccine response and normal humoral response to HSV-1) but a decreased number of T- cells (CD3+ 1020/µL (1320-3300), CD3+CD8+ 281/µL (390-1100) with normal T-cell response after antigen stimulation. The diagnosis of Darier disease (DD) was confirmed based on medical history, clinical findings and histological finding of focal suprabasal acantholysis and dyskeratosis (Figure 3). Low-dose oral retinoid therapy was initiated with modest clinical response after 6 months of therapy. In the light of recent publication (1), we initiated intravenous immunoglobulin (IVIG) substitution (400 mg/kg every month) with excellent clinical response. After 4 months, the patient's skin improved in terms of reduced inflammation, scab healing, and reduced itching. Acyclovir prophylaxis was continued. The patient had no new episodes of KVE during follow-up. Kaposi's varicelliform eruption (KVE) or eczema herpeticum occurs in a chronic inflammatory skin disease such as atopic dermatitis (AD), SD, Hailey-Hailey disease, allergic contact dermatitis, psoriasis, and DD (2). It is considered a dermatologic emergency due to its high mortality rate if misdiagnosed or left untreated (3). DD is a rare autosomal dominant genodermatosis of variable expressivity caused by mutations in the ATP2A2 gene, which encodes a sarco/endoplasmic reticulum calcium ATPase (SERCA2) highly expressed in keratinocytes (4). The onset of the disease usually occurs between the ages of 6 and 20 years. There are several clinical variants of DD: hypertrophic, verrucous, vesicular-bullous (dyshidrotic), erosive, and predominantly intertriginous forms (4). The fact that skin lesions occurred in infancy and a negative family history for skin diseases could be the reason our patient was initially misdiagnosed with seborrheic dermatitis. Due to the variable expressivity of the disease, it is impossible to exclude the diagnosis in other family members, and genetic testing of the patient and family members is therefore planned. A co-occurrence of neuropsychiatric abnormalities such as epilepsy, mental impairment, and mood disorders have been reported in patients with Darier disease, and these disorders were also present in our patient (5), indicating a correct diagnosis. Patients with DD have a high propensity for severe viral, bacterial, and fungal skin infection, probably due to local disruption of the skin barrier function or as the result of an underlying defect in general host defence (6). The occurrence of KVE in patients with DD is rare (7) and possibly caused by a disturbances in cell-mediated immunity (8). Despite abnormal findings in cellular immunity in some patients with DD, no consistent or specific abnormalities of the immune system have yet been demonstrated (6). Our patient had a decreased number of cytotoxic T-cells with normal T-cell response after antigen stimulation (in contrast with the findings of Jegasothy et al. (6)) and normal humoral response to HSV-1 infection. Recurrent KVE in our patient could be related to immune system dysfunction as an additional risk factor, along with impaired skin barrier. The excellent clinical response to IVIG speaks in favor of the role of antibody immune response in preserving the skin barrier. Occurrence of KVE in patients with mild DD (as in the case of our patient) and in some patients immediately preceding clinical skin manifestations of disease, argues very strongly against the second supposition. The severity of DD is variable and has a chronic course with frequent exacerbations and remissions. Known exacerbating triggers are: heat, sweat, sun exposure, friction, medication, and infection (9,10). The disease is chronic, and management is focused on the improvement of the skin appearance, relief of symptoms (e.g., irritation, pruritus, and malodor), and prevention or treatment of secondary infections. Topical (emollients, corticosteroids, retinoids, 5-fluorouracil, tacrolimus, pimecrolimus), physical (excision, electrodessication, dermabrasion, ablative laser, photodynamic therapy), and systemic (oral antibiotics, antiviral drugs, antimicrobial prophylaxis, vitamin A, retinoids) therapies are among the treatment options, all of which are of limited effect (2,11,12). IVIG substitution could be beneficial in some patients with Darier disease (1). In conclusion, this case highlights the association of DD with impaired cellular immunity and indicates the importance of proper diagnosis due to adequate management and avoidance of possible fatal outcomes. However, whether a subtle abnormality of T-cells in DD predisposes the patient to KVE remains unclear. Possible underlying mechanisms should be investigated further.


Asunto(s)
Enfermedad de Darier , Dermatitis Alérgica por Contacto , Dermatitis Seborreica , Herpes Simple , Erupción Variceliforme de Kaposi , Masculino , Niño , Humanos , Preescolar , Adolescente , Adulto Joven , Adulto , Erupción Variceliforme de Kaposi/complicaciones , Erupción Variceliforme de Kaposi/diagnóstico , Erupción Variceliforme de Kaposi/tratamiento farmacológico , Enfermedad de Darier/complicaciones , Enfermedad de Darier/diagnóstico , Enfermedad de Darier/tratamiento farmacológico , Dermatitis Seborreica/complicaciones , Inmunoglobulinas Intravenosas , Herpes Simple/complicaciones , Herpes Simple/diagnóstico , Herpes Simple/tratamiento farmacológico , Aciclovir/uso terapéutico , Retinoides
9.
Dermatol Ther ; 33(6): e14128, 2020 11.
Artículo en Inglés | MEDLINE | ID: mdl-32761748

RESUMEN

Children with epidermolysis bullosa (EB) experienced the highest quality of life impact among several skin conditions and have problems which had not been reported by parents of children with other skin diseases. The EB-specific module of the Infants and Toddlers Dermatology Quality of Life (InToDermQoL) questionnaire was recently developed to measure the impact of disease-specific aspects in children from birth to the age of 4 years. The aim of this study was initial validation of the InToDermQoL-EB questionnaire. Parents of 44 children with EB from seven countries completed the InToDermQoL-EB questionnaire. Cronbach's alpha was .86, .89 and .91 for three age-specific versions. Differences between severity levels were all significant except for that between moderate and severe level in the version for 3- to 4-year-old children. All items of the three versions of the InToDermQoL-EB showed very high levels of relevance except "problems with defecation" in children younger than 1 year and "rejection by other children" in 3- to 4-year-old children. The three versions of the InToDermQoL-EB instrument showed good internal consistency and discriminated well between different severity levels. All InToDermQoL-EB items were confirmed as being of high relevance and the questionnaire may be used in practice and clinical trials.


Asunto(s)
Dermatología , Epidermólisis Ampollosa , Preescolar , Epidermólisis Ampollosa/diagnóstico , Humanos , Lactante , Padres , Calidad de Vida , Encuestas y Cuestionarios
10.
Acta Dermatovenerol Croat ; 28(7): 197-203, 2020 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-33834990

RESUMEN

Atopic dermatitis (AD) is a common chronic and relapsing, non-contagious inflammatory skin disorder, characterized by skin barrier impairment and baseline immune irregularities. The literature on the relationship between AD and cutaneous delayed-type hypersensitivity is inconclusive. There is an ongoing debate whether contact sensibility (CS) is found more or less often among patients with AD. Aim of the study was to evaluate the incidence of contact sensitivity (positive patch test reactions) in patients with and without AD. We patch tested a total of 2143 patients (563 men and 1580 women). There were 226 patients with history of AD; 61 (27%) men and 165 (73%) women. The patient group without AD consisted of 1917 patients, 502 (26%) male and 1415 (74%) female patients, who were referred to our Department with clinical suspicion of allergic contact dermatitis (ACD). A patch test was performed with the baseline series, and readings were performed on days D2, D3, and D7. Among patients with AD, 109 (48.2%) had a positive patch test reaction to at least one allergen, whereas 1094 (57.1%) patients with no history of AD had a positive patch test reaction. The most common positive allergens in patients with AD were nickel (II) sulfate (13.3%), thimerosal (12.4%), cobalt (II) chloride (11.5%), methylisothiazolinone (MI) (8.4%), fragrance mix I (6.6%), potassium dichromate (5.3%), methyldibromo glutaronitrile (4.0%), and carba mix (4.0%). The results of our study agree with previous findings that there is no significant difference in prevalence of CS between the atopic and nonatopic populations.


Asunto(s)
Dermatitis Alérgica por Contacto , Dermatitis Atópica , Alérgenos , Dermatitis Alérgica por Contacto/diagnóstico , Dermatitis Alérgica por Contacto/epidemiología , Dermatitis Atópica/diagnóstico , Dermatitis Atópica/epidemiología , Femenino , Humanos , Masculino , Pruebas del Parche , Estudios Retrospectivos
11.
G Ital Dermatol Venereol ; 153(3): 419-428, 2018 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-29199804

RESUMEN

Contact allergies are common cause of eczema in all age groups and are one of the most common causes of occupational disability. Contact dermatitis (CD) can be divided into irritant and allergic contact dermatitis. Distinguishing between irritant and allergic triggers of CD by clinical and histologic examinations can be challenging. The approach to patients with CD should consist of a detailed (work and leisure) history, skin examination, patch tests with allergens based on history, physical examination, education on materials that contain the allergen and adequate therapy and prevention.


Asunto(s)
Alérgenos/inmunología , Dermatitis Alérgica por Contacto/diagnóstico , Dermatitis Irritante/diagnóstico , Dermatitis Alérgica por Contacto/inmunología , Dermatitis Alérgica por Contacto/terapia , Dermatitis Profesional/diagnóstico , Dermatitis Profesional/inmunología , Dermatitis Profesional/terapia , Eccema/diagnóstico , Eccema/etiología , Humanos , Pruebas del Parche/métodos
12.
Pediatr Dermatol ; 33(1): 28-32, 2016.
Artículo en Inglés | MEDLINE | ID: mdl-26459969

RESUMEN

BACKGROUND: Atopic dermatitis (AD) is a common childhood disease of increasing prevalence that not only changes the life of the affected children, but also affects the social and emotional functioning of their families. OBJECTIVES: The aim of our study was to assess the quality of life (QOL) of parents with children with AD and its predictors. METHODS: One hundred seventy-one parents of children with AD attending the outpatient Pediatric Dermatology Unit, Children's Hospital Zagreb, participated in the study. The severity of AD was estimated using the Scoring Atopic Dermatitis (SCORAD) index. Parents were asked to complete the Croatian version of the Family Dermatology Life Quality Index (FDLQI), the Patient-Oriented (PO) SCORAD, the Perceived Stress Scale (PSS), and a general questionnaire during a regular follow-up visit. RESULTS: Family QOL is significantly correlated with the SCORAD score (correlation coefficient [r] = 0.578), PO SCORAD (r = 0.447), itching (r = 0.528), sleeplessness (r = 0.583), and PSS (r = 0.464). When these factors were entered into a regression analysis, they predicted as much as 67% of the variance of QOL (FDLQI), with significant predictors being PO SCORAD, PO sleeplessness, and PSS, and they remained significant even after controlling for a number of general and medical factors. CONCLUSIONS: The severity of illness as perceived by dermatologists and parents is similar, and itching, sleeplessness, and perceived stress are strong QOL predictors of parents caring for children with AD.


Asunto(s)
Dermatitis Atópica/psicología , Padres/psicología , Calidad de Vida/psicología , Adulto , Niño , Preescolar , Croacia , Familia , Femenino , Humanos , Lactante , Masculino , Persona de Mediana Edad , Índice de Severidad de la Enfermedad , Encuestas y Cuestionarios , Adulto Joven
13.
Acta Dermatovenerol Croat ; 22(1): 40-3, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-24813840

RESUMEN

Possible modes of transmission of the human papilloma virus (HPV) in children include perinatal transmission, sexual transmission, or extragenital contact. Conventional treatment options with chemical and physical destruction methods can be difficult and painful and often require general anesthesia. Imiquimod is a topically active immunomodulatory agent that has been shown to successfully treat pediatric anogenital warts. We report on a case of extensive anogenital warts in a 18-month-old girl who was successfully treated with topical 5% imiquimod cream.


Asunto(s)
Aminoquinolinas/administración & dosificación , Condiloma Acuminado/tratamiento farmacológico , Inductores de Interferón/administración & dosificación , Crema para la Piel/uso terapéutico , Enfermedades de la Vulva/tratamiento farmacológico , Enfermedades de la Vulva/virología , Femenino , Humanos , Imiquimod , Lactante
14.
Acta Med Croatica ; 66 Suppl 1: 119-22, 2012 Oct.
Artículo en Croata | MEDLINE | ID: mdl-23193833

RESUMEN

Epidermolysis bullosa is a group of inherited disorders characterized by blister formation on the skin and mucous membrane as the result of molecular defects in genes coding for different structural proteins. They present with a wide clinical spectrum of manifestations because of a variety of molecular defects. Therapy depends on the form of the disease, severity and extent of skin involvement and extracutaneous manifestations, and consists of supportive skin care and supportive care for other organ systems. Skin care includes protection against trauma, proper skin care, treatment of blisters and erosions, and regular dermatological controls for early detection of skin cancer.


Asunto(s)
Epidermólisis Ampollosa/diagnóstico , Epidermólisis Ampollosa/terapia , Niño , Humanos , Cuidados de la Piel
15.
Coll Antropol ; 35 Suppl 2: 339-41, 2011 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-22220467

RESUMEN

Apoptosis or programmed cell death is a key function in regulating skin development, homeostasis and tumorigenesis. The epidermis is exposed to various external stimuli and one of the most important is UV radiation. The UVA and UVB spectra differ in their biological effects and in their depth of penetration through the skin layers. UVB rays are absorbed directly by DNA which results in its damage. UVA can also cause DNA damage but primarily by the generation of reactive oxygen species. By eliminating photodamaged cells, apoptosis has an important function in the prevention of epidermal carcinogenesis. UV-induced apoptosis is a complex event involving different pathways. These include: 1. activation of the tumour suppressor gene p53; 2. triggering of cell death receptors directly by UV or by autocrine release of death ligands; 3. mitochondrial damage and cytochrome C release. The extrinsic pathway through death receptors such as fibroblast-associated, tumour necrosis factor receptor and TNF related apoptosis inducing ligand receptor activate caspase cascade. The intrinsic or mitochondrial pathway of apoptosis is regulated by the Bcl-2 family of proteins, anti-apoptotic (Bcl-2, Bcl-xl, Bcl-w) and the pro-apoptotic (Bax, Bak, Bid). The balance between the pro-apoptotic and anti-apoptotic proteins determines cell survival or death. We discuss recent findings in the molecular mechanisms of UV induced apoptosis.


Asunto(s)
Apoptosis/efectos de la radiación , Enfermedades de la Piel/etiología , Enfermedades de la Piel/patología , Rayos Ultravioleta/efectos adversos , Humanos , Piel/patología , Piel/efectos de la radiación
16.
Coll Antropol ; 35 Suppl 2: 343-6, 2011 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-22220468

RESUMEN

In the last decade, awareness of the harmful effects of solar ultraviolet radiation has increased. Modern lifestyles, outdoor occupations, sports and other activities make total sun avoidance impossible. Children spend more time outdoors than adults and there is compelling evidence that childhood is a particularly vulnerable time for the photocarcinogenic effects of the sun. Sun exposure among infants and pre-school age children is largely depend on the discretion of adult care providers. It is important to learn safe habits about sun-safety behaviours during the childhood. Children deserve to live and play in safe environments, and it is the responsibility of every adult to help children stay safe. Protecting children from excessive sun exposure is protection from sunburn today and other forms of sun damages, especially skin cancers, in the future.


Asunto(s)
Exposición a Riesgos Ambientales/prevención & control , Promoción de la Salud/métodos , Neoplasias Cutáneas/prevención & control , Luz Solar/efectos adversos , Rayos Ultravioleta/efectos adversos , Niño , Humanos
17.
Acta Dermatovenerol Croat ; 18(1): 14-20, 2010.
Artículo en Inglés | MEDLINE | ID: mdl-20361883

RESUMEN

Atopy patch test has been recognized as a diagnostic tool for the verification of food allergies in infants and small children suffering from atopic dermatitis. The test also has a role in the diagnosis of food allergies characterized by clinical signs associated with the digestive system. Yet, in spite of numerous studies, the test itself has hitherto not been standardized. Our study enlisted 151 children less than two years of age, who exhibited suspect skin and/or gastrointestinal manifestations of food allergy to cow's milk, and in whom tests failed to prove early type of allergic reaction. Atopy patch test was positive in 28% of the children with atopic dermatitis, 43% of the children with suspect gastrointestinal manifestation and 32% of the children with skin and gastrointestinal manifestations of food allergy. In our experience, atopy patch test is an excellent addition to the hitherto used tests for the diagnosis of food allergies. It targets specifically delayed type hypersensitivity reactions, which are difficult to confirm with other diagnostic tools. It is furthermore simple to perform, noninvasive and produces a minimum of undesired side effects. For these reasons, it should become part of the routine diagnostic toolset for food allergies to cow's milk in infants and children, and applied before a food challenge test.


Asunto(s)
Hipersensibilidad a la Leche/diagnóstico , Pruebas del Parche , Animales , Bovinos , Femenino , Humanos , Lactante , Masculino , Hipersensibilidad a la Leche/inmunología
18.
Int J Pediatr Otorhinolaryngol ; 74(3): 302-5, 2010 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-20044146

RESUMEN

We report a rare case of a child with epidermolysis bullosa simplex (EBS) with plectin deficiency but without muscular dystrophy, with severe lesions of the oral cavity, oropharyngeal, hypopharyngeal, laryngeal, tracheal and bronchial mucosa. Case report and a review of the world literature are used. The literature review revealed only five similar patients with EBS without muscular dystrophy complicated by respiratory involvement. This paper highlights the potentially serious complications of the EB in the form of breathing, swallowing and speech difficulties and describes the specific problems encountered in the treatment of this patient. Epidermolysis bullosa (EB) is a group of severe hereditary diseases, primarily of the skin, but which can also involve the respiratory and gastrointestinal tract mucosa. Respiratory tract involvement is usually only found in certain types of EB. The oral cavity and oropharynx are involved more frequently than the hypopharynx, larynx and trachea. Involvement of laryngeal and tracheal mucosa is generally associated with an increased morbidity and mortality, numerous complications and therapeutic difficulties, and is more common in junctional EB and dystrophic EB than in EBS. We present a rare case of a child with EBS and plectin deficiency with pronounced lesions of respiratory tract mucosa from the oral cavity to the bronchi and even extending into the trachea. Deciding on tracheotomy requires thorough consideration and should not be taken lightly.


Asunto(s)
Bronquios/patología , Epidermólisis Ampollosa/patología , Laringoestenosis/complicaciones , Boca/patología , Orofaringe/patología , Plectina/deficiencia , Tráquea/patología , Bronquios/metabolismo , Bronquios/cirugía , Niño , Trastornos de Deglución/epidemiología , Trastornos de Deglución/metabolismo , Epidermólisis Ampollosa/complicaciones , Epidermólisis Ampollosa/cirugía , Humanos , Recién Nacido , Laringoestenosis/cirugía , Masculino , Boca/metabolismo , Boca/cirugía , Membrana Mucosa/metabolismo , Membrana Mucosa/patología , Orofaringe/metabolismo , Orofaringe/cirugía , Trastornos del Habla/epidemiología , Tráquea/metabolismo , Tráquea/cirugía , Traqueostomía
19.
Coll Antropol ; 34 Suppl 2: 233-7, 2010 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-21302727

RESUMEN

Children spend more time outdoors than adults and there is compelling evidence that childhood is a particularly vulnerable time for the photocarcinogenic effects of the sun. The negative effects of solar radiation are accumulated during the entire lifetime; however 80% of total lifetime sun exposure is taking place before the age of 18 years. Child skin is more sensitive than adult skin because natural defense mechanisms are not fully developed. A short exposure to midday sun will result in sunburns. Epidemiologic studies show a higher incidence of malignant melanoma in persons with a history of sunburns during childhood and adolescence. Sun exposure among infants and pre-school children is largely dependent on the discretion of adult care providers. Sun protective habits of mothers may predict the level of sun exposure in children. It is very important to transfer the knowledge and positive habits of proper sun protection to children. The purpose of sun-safety behavior is not to avoid outdoor activities, but rather to protect the skin from detrimental sun effects. Proper sun protection of children includes protection from excessive sun exposure, sunburns and other forms of skin damage caused by sun, which may lead to the future development of skin cancers. This paper reviews acute skin reactivity to sun in childhood and adolescence that causes damage in skin structure and function and produces undesirable chronic changes in adults.


Asunto(s)
Melanoma/epidemiología , Melanoma/prevención & control , Envejecimiento de la Piel/patología , Neoplasias Cutáneas/epidemiología , Neoplasias Cutáneas/prevención & control , Enfermedad Aguda , Adulto , Niño , Enfermedad Crónica , Humanos , Factores de Riesgo , Protectores Solares/uso terapéutico
20.
Coll Antropol ; 34 Suppl 2: 295-7, 2010 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-21305746

RESUMEN

Halo nevi, also termed Sutton nevi, are defined as benign melanocytic nevi that are surrounded by an area of depigmentation resembling a halo. Halo nevi are common in children and young adults, with a mean age at onset of 15 years. The incidence in the population is estimated to be approximately 1%. Affected individuals frequently have multiple lesions which are usually localized on the back. A familial tendency for halo nevi has been reported. The etiology of halo nevi is unknown. It is an autoimmune response and T lymphocytes are considered to play a key role in the progressive destruction of nevus cells. Halo nevi may be associated with autoimmune disorders such as vitiligo, Hashimoto thyroiditis, alopecia areata, celiac disease, atopic dermatitis and others. It has been proved that halo nevi are detected after an intense sun exposure especially after sunburns. The etiology of halo nevi, association with malignant melanoma and the role of sun exposure in the development of halo nevi are discussed.


Asunto(s)
Enfermedades Autoinmunes/complicaciones , Melanoma/etiología , Nevo con Halo/etiología , Neoplasias Cutáneas/etiología , Rayos Ultravioleta/efectos adversos , Adulto , Niño , Humanos , Melanoma/inmunología , Nevo con Halo/inmunología , Neoplasias Cutáneas/inmunología
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