ABSTRACT
CHILD syndrome (Congenital Hemidysplasia, Ichthyosiform erythroderma, Limb Defects) is a rare X-linked dominant disease. The authors report a 2-month-old patient presenting with typical features of CHILD syndrome that was treated with a topical solution containing cholesterol and lovastatin, with complete clearance of her CHILD nevus. The changes in skin lipid metabolism that explain the CHILD ichthyosiform nevus and their correction through topical application of cholesterol and lovastatin are discussed.
Subject(s)
Abnormalities, Multiple/drug therapy , Anticholesteremic Agents/administration & dosage , Cholesterol/metabolism , Genetic Diseases, X-Linked/drug therapy , Ichthyosiform Erythroderma, Congenital/drug therapy , Limb Deformities, Congenital/drug therapy , Lovastatin/administration & dosage , Abnormalities, Multiple/genetics , Administration, Topical , Cholesterol/biosynthesis , Female , Genetic Diseases, X-Linked/genetics , Humans , Ichthyosiform Erythroderma, Congenital/genetics , Infant , Limb Deformities, Congenital/genetics , Metabolic Diseases/geneticsABSTRACT
Abstract: CHILD syndrome (Congenital Hemidysplasia, Ichthyosiform erythroderma, Limb Defects) is a rare X-linked dominant disease. The authors report a 2-month-old patient presenting with typical features of CHILD syndrome that was treated with a topical solution containing cholesterol and lovastatin, with complete clearance of her CHILD nevus. The changes in skin lipid metabolism that explain the CHILD ichthyosiform nevus and their correction through topical application of cholesterol and lovastatin are discussed.
Subject(s)
Humans , Female , Infant , Abnormalities, Multiple/drug therapy , Lovastatin/administration & dosage , Cholesterol/metabolism , Ichthyosiform Erythroderma, Congenital/drug therapy , Limb Deformities, Congenital/drug therapy , Genetic Diseases, X-Linked/drug therapy , Anticholesteremic Agents/administration & dosage , Abnormalities, Multiple/genetics , Cholesterol/biosynthesis , Administration, Topical , Ichthyosiform Erythroderma, Congenital/genetics , Limb Deformities, Congenital/genetics , Genetic Diseases, X-Linked/genetics , Metabolic Diseases/geneticsABSTRACT
BACKGROUND: Acne in women is often associated with anxiety and depression, and may persist from adolescence as well as manifest for the first time in adulthood. Genetic and hormonal factors contribute to its etiopathogenesis, and maintenance treatment is required, usually for years, due to its clinical evolution. OBJECTIVE: To develop a guide for the clinical practice of adult female acne. METHODS: A team of five experts with extensive experience in acne conducted a literature review of the main scientific evidence and met to discuss the best practices and personal experiences to develop a guide containing recommendations for the clinical practice of adult female acne. RESULTS: The group of specialists reached consensus on the main guidelines for clinical practice, providing detailed recommendations on clinical picture, etiopathogenesis, laboratory investigation and treatment of adult female acne. CONCLUSION: Different from teenage acne, adult female acne presents some characteristics and multiple etiopathogenic factors that make its management more complex. This guide provides recommendations for best clinical practices and therapeutic decisions. However, the authors consider that additional studies are needed in order to provide more evidence for adult female acne to be better understood.
Subject(s)
Acne Vulgaris/drug therapy , Acne Vulgaris/etiology , Adult , Androgens , Anti-Bacterial Agents/therapeutic use , Consensus , Dermatologic Agents/therapeutic use , Female , Humans , Practice Guidelines as Topic , Quality of Life , Risk Factors , SebumABSTRACT
Abstract: Background: Acne in women is often associated with anxiety and depression, and may persist from adolescence as well as manifest for the first time in adulthood. Genetic and hormonal factors contribute to its etiopathogenesis, and maintenance treatment is required, usually for years, due to its clinical evolution. Objective: To develop a guide for the clinical practice of adult female acne. Methods: A team of five experts with extensive experience in acne conducted a literature review of the main scientific evidence and met to discuss the best practices and personal experiences to develop a guide containing recommendations for the clinical practice of adult female acne. Results: The group of specialists reached consensus on the main guidelines for clinical practice, providing detailed recommendations on clinical picture, etiopathogenesis, laboratory investigation and treatment of adult female acne. Conclusion: Different from teenage acne, adult female acne presents some characteristics and multiple etiopathogenic factors that make its management more complex. This guide provides recommendations for best clinical practices and therapeutic decisions. However, the authors consider that additional studies are needed in order to provide more evidence for adult female acne to be better understood.
Subject(s)
Humans , Female , Adult , Acne Vulgaris/etiology , Acne Vulgaris/drug therapy , Quality of Life , Sebum , Risk Factors , Practice Guidelines as Topic , Consensus , Dermatologic Agents/therapeutic use , Androgens , Anti-Bacterial Agents/therapeutic useABSTRACT
Acquired melanocytic lesions may present unusual clinical features in all forms of hereditary epidermolysis bullosa. These lesions are known as "EB nevi", and often pose a diagnostic challenge for dermatologists given their resemblance - clinically, dermoscopically and histologically - to melanoma. The lesions have been reported in all types of hereditary EB, most of them in childhood. We report the case of a 6-month-old boy suffering from recessive dystrophic epidermolysis bullosa (RDEB) that presented as a large pigmented lesion on his left thigh. We decided to monitor the lesion closely since we considered that the clinical and pathological aspects of the lesion were compatible with the description of other previously reported cases of EB nevi.
Subject(s)
Epidermolysis Bullosa Dystrophica/diagnosis , Nevus/diagnosis , Skin Neoplasms/diagnosis , Epidermolysis Bullosa Dystrophica/pathology , Follow-Up Studies , Humans , Infant , Male , Nevus/pathology , Skin Neoplasms/pathologyABSTRACT
As lesões melanocíticas adquiridas podem apresentar aspecto clínico não-usual em pacientes portadores de epidermólise bolhosa hereditária. Essas lesões são conhecidas como "nevos EB" e, muitas vezes, constituem um desafio diagnóstico ao dermatologista por apresentarem características clínicas, dermatoscópicas e histopatológicas semelhantes às encontradas no melanoma. Não são exclusivas de nenhuma forma de epidermólise bolhosa e têm sua frequência aumentada na infância. Relata-se o caso de um doente do sexo masculino, de 6 meses de idade, portador da forma distrófica recessiva da doença, com lesão pigmentada de rápido crescimento na coxa esquerda. Optou-se por seguimento clínico da lesão, considerando que os aspectos clínicos, dermatoscópicos e histológicos eram compatíveis com a descrição de outros casos de nevo EB previamente descritos.
Acquired melanocytic lesions may present unusual clinical features in all forms of hereditary epidermolysis bullosa. These lesions are known as "EB nevi", and often pose a diagnostic challenge for dermatologists given their resemblance - clinically, dermoscopically and histologically - to melanoma. The lesions have been reported in all types of hereditary EB, most of them in childhood. We report the case of a 6-month-old boy suffering from recessive dystrophic epidermolysis bullosa (RDEB) that presented as a large pigmented lesion on his left thigh. We decided to monitor the lesion closely since we considered that the clinical and pathological aspects of the lesion were compatible with the description of other previously reported cases of EB nevi.
Subject(s)
Humans , Infant , Male , Epidermolysis Bullosa Dystrophica/diagnosis , Nevus/diagnosis , Skin Neoplasms/diagnosis , Epidermolysis Bullosa Dystrophica/pathology , Follow-Up Studies , Nevus/pathology , Skin Neoplasms/pathologyABSTRACT
Neonatal skin suffers a progressive adaptation to the extrauterine environment and special care is needed during this period. This skin is very sensitive, thin and fragile. Immaturity of the epidermal barrier reduces the defense against the excessive proliferation of microbes and makes the skin more vulnerable to trauma and percutaneous drug toxicity. Because of the peculiar characteristics of newborn, infant and children's skin, the use of cosmetic products designed for hygiene and protection requires caution. In order to preserve the integrity of neonatal and child's skin, this article reviewed basic preventive care practices in relation to hygiene, bathing, cleansing agents, topical products and their percutaneous toxicity.
Subject(s)
Skin Care/methods , Skin Diseases/prevention & control , Child , Child, Preschool , Cosmetics , Emollients , Humans , Infant , Infant Care/methods , Infant, Newborn , Pharmaceutical VehiclesABSTRACT
A pele do neonato é submetida a um progressivo processo de adaptação ao ambiente extrauterino, para o qual cuidados especiais se tornam necessários. A sua pele caracteriza-se por ser sensível, fina e frágil. A imaturidade da sua barreira epidérmica diminui significativamente a defesa contra a excessiva proliferação microbiana, torna a pele mais susceptível ao trauma e à toxicidade por absorção percutânea de drogas. Devido às características próprias da pele do recém-nascido (RN), de lactentes e de crianças, o uso dos produtos cosméticos destinados à sua higiene e proteção requer um cuidado especial. Com o intuito de preservar a integridade da pele neonatal e infantil, este artigo revisou os cuidados preventivos básicos que se devem ter com a pele dos bebês quanto à higiene, ao banho, ao uso de agentes de limpeza, a produtos tópicos e a sua toxicidade percutânea.
Neonatal skin suffers a progressive adaptation to the extrauterine environment and special care is needed during this period. This skin is very sensitive, thin and fragile. Immaturity of the epidermal barrier reduces the defense against the excessive proliferation of microbes and makes the skin more vulnerable to trauma and percutaneous drug toxicity. Because of the peculiar characteristics of newborn, infant and children's skin, the use of cosmetic products designed for hygiene and protection requires caution. In order to preserve the integrity of neonatal and child's skin, this article reviewed basic preventive care practices in relation to hygiene, bathing, cleansing agents, topical products and their percutaneous toxicity.
Subject(s)
Child , Child, Preschool , Humans , Infant , Infant, Newborn , Skin Care/methods , Skin Diseases/prevention & control , Cosmetics , Emollients , Infant Care/methods , Pharmaceutical VehiclesABSTRACT
Ichthyosis is a heterogeneous cornification disorder. Melanocytic lesions have not been previously described in association with ichthyosis. Their clinical importance lies in the fact that they may simulate melanoma clinically and dermoscopically, as seen in epidermolysis bullosa. The objective of this study was to evaluate the clinical, dermoscopic, and histopathologic features of nevi and lentigines in 16 patients with autosomal recessive congenital ichthyosis-lamellar ichthyosis and nonbullous ichthyosiform congenital erythroderma. Patients underwent general clinical examination dermoscopy. The more suspicious lesions were excised and to histopathologic examination. Most patients (n = 13) reported no personal or familial history of melanoma or atypical nevi. All of the patients had at least five atypical melanocytic lesions. Ten of the 16 patients had at least one atypical nevus or lentigo. This study suggests that increased atypical melanocytic nevi may be a feature of long-standing congenital ichthyoses. Whether this finding is disease-related or a coincidental observation is difficult to ascertain. As an unequivocal discrimination from malignant melanoma in vivo is not always possible, regular clinical follow-up of patients with ichthyosis and increased or unusual nevi is recommended.
Subject(s)
Ichthyosis/epidemiology , Ichthyosis/pathology , Nevus, Pigmented/epidemiology , Nevus, Pigmented/pathology , Adolescent , Adult , Biopsy , Brazil/epidemiology , Child , Female , Humans , Ichthyosis/genetics , Incidence , Lentigo/epidemiology , Lentigo/pathology , Male , Young AdultABSTRACT
O trabalho faz uma revisão da incidência, epidemiologia, patogenia e quadro clínico da psoríase na infância, destacando as diversas manifestações da doença na criança.A seguir, atualiza o diagnóstico clínico, histológico e radiológico, enfatizando a importância de um diagnóstico diferencial cuidadoso. Finaliza abordando o tratamento da psoríase, compreendendo corticoterapia tópica, fototerapia, terapêutica medicamentosa e apoio psicológico.
Subject(s)
Humans , Male , Female , Child , Epidermis/pathology , Phototherapy , Psoriasis/diagnosis , Psoriasis/epidemiology , Psoriasis/pathology , Psoriasis/therapy , Skin DiseasesABSTRACT
Diaper irritant contact dermatitis is the most prevalent diaper dermatitis and, probably, the most common cause of cutaneous disease in infants. Wearing diapers causes over-hydration and increase of local temperature and humidity. As a consequence, the skin becomes susceptible to friction from movement under the diaper. Occlusion, maceration and possibly Candida and bacteria may all play a role. Oils, soaps and powders can be irritants and aggravate the eruption. The best thing to do is prevention. Treatment is simple and depends on dermatitis type and severity.
Subject(s)
Diaper Rash/diagnosis , Diaper Rash/therapy , Diaper Rash/etiology , Humans , Infant , Infant, NewbornABSTRACT
A dermatite da área da fralda irritativa primária é a mais prevalente desse tipo, sendo provavelmente a afecção cutânea mais freqüente na primeira infância. Constitui fonte significativa de desconforto para a criança. O uso da fralda ocasiona aumento da temperatura e da umidade locais. Há conseqüente maceração da pele, que se torna mais susceptível à irritação ocasionada pelo contato prolongado da urina e das fezes. Freqüentemente surge infecção secundária por Candida albicans ou por bactérias como Bacillos faecallis, Proteus, Pseudomonas, Staphylococcus e Streptococcus. O uso de pós, óleos, sabões e pomadas irritantes agravam o quadro clínico. A melhor conduta é a prevenção que engloba um conjunto de medidas que têm como objetivos manter a superficie seca, limitar a mistura e dispersão da urina e das fezes, reduzir seu contato com a pele, evitar irritação e maceração, preservar a função de barreira cutânea e manter, sempre que possível, um pH ácido. O tratamento médico consiste em medidas simples, ajustadas de acordo com a gravidade e o tipo de dermatite.
Diaper irritant contact dermatitis is the most prevalent diaper dermatitis and, probably, the most common cause of cutaneous disease in infants. Wearing diapers causes over hydration and increase of local temperature and humidity. As a consequence, the skin becomes susceptible to friction from movement under the diaper. Occlusion, maceration and possibly Candida and bacteria may all play a role. Oils, soaps and powders can be irritant and aggravate the eruption. The best thing to do is prevention. Treatment is simple anddepends on dermatitis type and severity.
Subject(s)
Humans , Infant , Infant, Newborn , Diaper Rash/diagnosis , Diaper Rash/therapy , Diaper Rash/etiologyABSTRACT
A dermatite da área da fralda irritativa primária é a dermatite da área da fralda mais prevalente, sendo provavelmente a afecção cutânea mais freqüente na primeira infância, constituindo fonte significativa de desconforto para a criança. O uso da fralda ocasiona aumento da temperatura e da umidade locais. Há conseqüente maceração da pele, que se torna mais susceptível à irritação ocasionada pelo contato prolongado da urina e das fezes com a pele da região coberta pelas fraldas. Freqüentemente surge infecção secundária por Candida ou por bactérias como Bacillos faecallis, Proteus, Pseudomonas, Staphylococcus e Streptococcus. O uso de pós, óleos, sabões e pomadas irritantes agravam o quadro clínico. Diante disso, é importante que se conheça a fisiopatologia da doença para que se possa fazer correta prevenção e tratamento apropriado.
Irritant contact dermatitis is the most prevalent diaper dermatitis and, probably, the most common cause of skin disease in infancy. The wearing of diaper leads to overhydration, increased local temperature and humidity. Constant maceration and prolonged contact with urine and stools makes the skin under the diaper more susceptible. There is often secondary infection due to Candida or bacteria, such as Bacillus faecallis, Proteus, Pseudomonas, Staphylococcus e Streptococcus. Oils, soaps, powders and ointments can be irritants and aggravate the rash. It is important to know the pathophysiology of the disease for appropriate treatment and prevention.
ABSTRACT
A síndrome Leopard é distúrbio autossômico dominante de forte penetrância e expressividade variável. O epônimo Leopard foi criado em 1969 como regra mnemônica, ressaltando as características mais marcantes da síndrome: lentiginose, distúrbios de condução no ECG, hipertelorismo ocular, estenose pulmonar, anormalidade genital, retardo do crescimento e déficit auditivo sensorial. Relata-se o caso de uma menina de 15 anos com características da síndrome Leopard e discutem-se suas principais manifestações clínicas e genéticas.
LEOPARD syndrome is a dominant autosomal anomaly, with high penetrance and markedly variable expression. The acronym LEOPARD was coined in 1969 as a mnemonic rule, highlighting the major features of this syndrome: lentigines, ECG conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. We report the case of a 15-year-old girl with characteristics of LEOPARD syndrome and further discuss the main clinical and genetical features of the disorder.
ABSTRACT
Objetivo: avaliar os distúrbios gastrointestinais de crianças e adolescentes com epidermólise bolhosa do tipo distrófica e juncional. Métodos: foram analisados os sinais e sintomas gastrointestinais presentes no primeiro atendimento, assim como os resultados de exames, de todosos pacientes atendidos com a doença em uma unidade universitária de gastroenterologia pediátrica / Objective: to evaluate the gastrointestinal disturbances observed in patientss with epidermolysis bullosa, junctional and dystrophic type. Methods: the gastrointestinal complaints at the first consultation were analysis...