RESUMO
Trace elements (microminerals) play a role in many physiological functions, including hormone production and cellular growth. However, their importance in diagnosing and treating dermatologic disease has not been well examined. In this review, we discuss the functions, sources, and recommended requirements of each micromineral. In addition, we analyze the systemic and dermatological manifestations associated with micromineral imbalances. The pathogenesis of genodermatoses, such as Wilson disease, Menkes disease, acrodermatitis enteropathica, and allergic dermatitis, are also discussed. Included are studies examining the potential therapeutic role of zinc, selenium, and copper in inflammatory diseases, skin cancer, and photoaging.
Assuntos
Acrodermatite , Dermatologia , Oligoelementos , Humanos , Oligoelementos/uso terapêutico , Zinco/uso terapêutico , Cobre , Acrodermatite/diagnóstico , Acrodermatite/tratamento farmacológicoRESUMO
Acrodermatitis Enteropathica is a rare hereditary condition characterized by perioral dermatitis, diarrhoea, and alopecia. Aetiology includes autosomal recessive inheritance and acquired causes such as protein malnutrition, malabsorption syndromes, premature births, parenteral nutrition, chronic illnesses, and alcoholism. We report a rare case of a 12-year-old boy who presented with cutaneous manifestations involving the whole body, diarrhoea, and sparse hairs. A low level of plasma zinc, and alkaline phosphatase level was found, and he was started on zinc supplements. He significantly improved in a few days, and was discharged after counselling the parents about treatment compliance. This case highlights importance of early diagnosis, and the importance of treatment compliance in Acrodermatitis Enteropathica. It also stresses the need to take measures to ensure the provision of health facilities especially in remote areas.
Assuntos
Acrodermatite , COVID-19 , Masculino , Humanos , Criança , COVID-19/complicações , Controle de Doenças Transmissíveis , Zinco/uso terapêutico , Acrodermatite/diagnóstico , Acrodermatite/etiologia , DiarreiaRESUMO
Zinc deficiency has long been known as acrodermatitis enteric dermatitis (congenital zinc deficiency). On the other hand, acquired zinc deficiency has attracted attention as a familiar disease in recent years. Epidemiological studies in Japan have shown that acquired zinc deficiency is more common than expected. It is also known that serum zinc levels fall markedly with age. In this report, several cases of acquired zinc deficiency that caused cheilitis are described. In all cases, the only symptom was cheilitis, the serum zinc level was low, and all cases were relieved by zinc supplementation. Zinc deficiency is associated with a range of pathological conditions, including mucocutaneous symptoms, delayed wound healing, dysgeusia, anemia, impaired immunity, and retarded growth development disorders. However, zinc deficiency may be overlooked even in cases of cheilitis alone. Especially in intractable cases, it is important to suspect zinc deficiency as one at the differential diagnoses.
Assuntos
Acrodermatite , Queilite , Humanos , Queilite/etiologia , Queilite/complicações , Acrodermatite/diagnóstico , Acrodermatite/etiologia , Zinco , Intestino Delgado , JapãoRESUMO
A girl, aged 11 years, was admitted due to recurrent rash on the whole body and mucosa for 10 years, and typical rash was erythema at the perioral region, hand-foot joints, vulva, and perianal region, with blisters, erosions, and ulcers on the erythema. The girl was improved after zinc supplementation. Her younger brother had similar rash and medical history. The histopathological examination showed epidermal parakeratosis with mild hyperkeratosis, severe spongiform edema of the stratum corneum, significant proliferation of acanthocytes, and vacuolation of keratinocytes. The genetic testing revealed that both the girl and her younger brother had a homozygous mutation of c.1456(exon9)delG in the SLC39A4 gene, and thus the girl was diagnosed with acrodermatitis enteropathica. It is concluded that for children with recurrent rash on the limbs and at the perioral region, genetic testing should be performed as early as possible to make a confirmed diagnosis, and a sufficient dose of zinc supplementation should be given, while the levels of trace elements such as blood zinc should be regularly monitored.
Assuntos
Acrodermatite , Proteínas de Transporte de Cátions , Exantema , Oligoelementos , Acrodermatite/diagnóstico , Acrodermatite/genética , Acrodermatite/patologia , Proteínas de Transporte de Cátions/genética , Criança , Exantema/etiologia , Feminino , Homozigoto , Humanos , Masculino , Recidiva , ZincoRESUMO
Acrodermatitis enteropathica (AE) is an acquired or inborn (congenital) disorder of zinc metabolism that leads to zinc deficiency. The congenital form typically presents in infants during the first few months of life when they are weaned from breast milk, presenting even earlier in those who are formula fed. Acquired deficiency may be seen at any age. The characteristic clinical features of AE include erythematous, dry, scaly papules and plaques that may evolve into crusted, erosive, pustular lesions. These lesions typically are distributed in an acral and periorificial pattern and are associated with alopecia and diarrhea. Evidence-based recommendations are sparse but generally indicate 3 mg/kg/d of oral zinc supplementation for both congenital and acquired AE. Appropriate dosing helps to avoid acute zinc toxicity involving nausea and vomiting. We report a case of a 3-month-old female infant with acquired AE who was successfully treated with zinc supplementation over the course of 3 weeks.
Assuntos
Acrodermatite , Zinco , Lactente , Humanos , Feminino , Zinco/uso terapêutico , Acrodermatite/diagnóstico , Acrodermatite/tratamento farmacológico , Acrodermatite/patologia , Leite Humano , AlopeciaRESUMO
A 3-month-old, full term female infant, adequate for gestational age, and exclusively breastfed, was admitted with a 10 day history of generalised scaling erythematous dermatitis, affecting the face (perinasal, nasolabial folds and periauricular), acral and intertriginous areas, with irritability and failure to thrive. Her mother had been treated with isoniazid since the third trimester because of family contact with tuberculosis. Based on a diagnosis of suspected impetiginised eczema, the infant was treated with flucloxacillin and prednisolone, and maternal isoniazid was suspended, with no improvement. Investigations found low serum zinc levels in the infant (33 µg/dL; normal range (NR) >60 µg/dL), normal plasma zinc levels in the mother (111.3 µg/dL; NR 68-120 µg/dL) and lower than the normal range of zinc levels in breast milk (270µg/L; NR 1000-2500 µg/L), suggesting acrodermatitis caused by zinc deficiency. Oral zinc supplementation (3 mg/kg/day) was started with a marked improvement in skin lesions, as well as good weight gain. At the age of 6 months, after food diversification, supplementation was suspended, without any recurrence of symptoms.
Assuntos
Acrodermatite , Desnutrição , Acrodermatite/diagnóstico , Acrodermatite/tratamento farmacológico , Acrodermatite/etiologia , Aleitamento Materno , Feminino , Humanos , Lactente , Leite Humano/química , ZincoAssuntos
Acrodermatite/patologia , Zinco/deficiência , Acrodermatite/complicações , Acrodermatite/diagnóstico , Acrodermatite/tratamento farmacológico , Dermatite das Fraldas/etiologia , Diarreia/etiologia , Suplementos Nutricionais , Humanos , Lactente , Masculino , Zinco/sangue , Zinco/uso terapêuticoAssuntos
Acrodermatite/patologia , Eritema/patologia , Psoríase/dietoterapia , Psoríase/etiologia , Zinco/deficiência , Acrodermatite/diagnóstico , Acrodermatite/tratamento farmacológico , Acrodermatite/etiologia , Adolescente , Biópsia , Suplementos Nutricionais , Eritema/diagnóstico , Eritema/etiologia , Feminino , Pé/patologia , Humanos , Psoríase/diagnóstico , Psoríase/patologia , Resultado do Tratamento , Zinco/sangue , Zinco/uso terapêuticoRESUMO
Introducción: La acrodermatitis enteropática es una dermatosis nutricional heredada o adquirida por deficiencia de zinc que clínicamente se caracteriza por eritema, escamocostras y erosiones, especialmente en la región perioral, en zonas acras y en la región anogenital. Además de una ingesta oral inadecuada, hay causas secundarias de esta deficiencia nutricional. Objetivo: Referir una dermatosis nutricional secundaria infrecuente en lactante femenina. Presentación de caso: Pequeñita de 6 meses de edad, fototipo III, alimentada con lactancia materna exclusiva, que acude a consulta especializada de dermatología en el hospital William Soler por cuadro clínico de 3 meses de evolución caracterizado por lesiones eritematocostrosas en regiónes acrales y periorificiales. Los padres refirieron lactancia materna exclusiva. Se realizaron complementarios Conclusiones: Las deficiencias de vitaminas y oligoelementos pueden ocasionar un amplio rango de hallazgos mucocutaneos. En el caso presentado diagnosticado como acrodermatitis enteropática adquirida, hay un aporte inadecuado de zinc en la leche materna(AU)
Introduction: Acrodermatitis enteropathica is an inherited or acquired nutritional dermatosis by zinc deficiency that is clinically characterized by erythema, squamous crusts and erosions, especially in the perioral region, in acral areas and in the anogenital region. In addition to inadequate oral intake, there are secondary causes of this nutritional deficiency. Objective: To refer a nutritional dermatosis uncommon in female infants. Case presentation: 6-months-old baby girl, skin phototype III, fed with exclusive breastfeeding whom was attended in the specialized consultation in Dermatology of William Soler Pediatric Hospital due to clinical framework of 3 months of evolution characterized by eritemato crusty lesions in acral and periorifices´ regions. Parents commented on exclusive breastfeeding. There were made complementary blood tests. Conclusions: The deficiencies of vitamins and trace elements may cause a wide range of mucocutaneous findings. In the presented case diagnosed as adquired acrodermatitis enteropathica, there is an inadequate intake of zinc in breast milk(AU)
Assuntos
Humanos , Feminino , Lactente , Acrodermatite/diagnóstico , Acrodermatite/epidemiologiaRESUMO
La acrodermatitis enteropática (AE) es una genodermatosis autosómica recesiva causada por la mutación del gen responsable de codificar a la proteína transportadora de Zinc (Zn) SLC39A4. A pesar de ser una rara enfermedad es de fácil manejo y gran relevancia clínica. Se caracteriza por la siguiente tríada: dermatitis acral y periorificial, diarrea y alopecia. Comunicamos un caso de presentación atípica en una lactante de 6 meses de edad con lesiones periorificiales y ampollas acrales que resolvió rápidamente con la terapia suplementaria con Zinc (AU)
Enteropathic acrodermatitis is an autosomal recessive genodermatosis caused by the mutation of the gene responsible for encoding the Zinc transporter protein SLC39A4. Despite being a rare disease, it is easy to manage and of great clinical relevance. It is characterized by the following triad: acral and periorificial dermatitis, diarrhea and alopecia. We report a case of atypical presentation in an almost 6-month-old infant with periorificial lesions and acral blisters that quickly resolved with supplemental Zinc therapy (AU)
Assuntos
Humanos , Feminino , Lactente , Zinco/deficiência , Acrodermatite/diagnóstico , Gastroenteropatias/diagnóstico , Acrodermatite/tratamento farmacológico , Sulfato de Zinco/uso terapêutico , Gastroenteropatias/tratamento farmacológicoRESUMO
Next-generation sequencing (NGS) is helpful in diagnosing complex genetic disorders and phenotypes, particularly when more than one overlapping condition is present. From a large cohort of 362 families with clinical manifestations of skin and mucosal fragility, referred by several major medical centers, one patient was found by NGS to have two overlapping heritable skin diseases, recessive dystrophic epidermolysis bullosa (RDEB; COL7A1 mutations) and acrodermatitis enteropathica (AE; SLC39A4 mutations). The pathogenicity of the variants was studied at gene expression as well as ultrastructural and tissue levels. Although there is no specific treatment for RDEB except avoiding trauma, supplementation with oral zinc (3 mg·kg-1 ·day-1 ) for the AE resulted in rapid amelioration of the skin findings. This case demonstrates the power of NGS in identifying two genetically unlinked diseases that led to effective treatment with major clinical benefits as an example of genomics-guided treatment.
Assuntos
Acrodermatite/genética , Acrodermatite/terapia , Epidermólise Bolhosa/genética , Epidermólise Bolhosa/terapia , Predisposição Genética para Doença , Genômica , Zinco/deficiência , Acrodermatite/diagnóstico , Adolescente , Alelos , Biomarcadores , Biópsia , Proteínas de Transporte de Cátions , Tomada de Decisão Clínica , Colágeno Tipo VII/genética , Consanguinidade , Gerenciamento Clínico , Epidermólise Bolhosa/diagnóstico , Feminino , Genômica/métodos , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Mutação , Linhagem , Fenótipo , Pele/patologiaRESUMO
Well-known causes of zinc deficiency, also referred to as acrodermatitis enteropathica (AE), include defects in intestinal zinc transporters and inadequate intake, but a rare cause of acquired zinc deficiency discussed here is an iatrogenic nutritional deficiency caused by parenteral nutrition administered without trace elements. While zinc-depleted parenteral nutrition causing dermatosis of acquired zinc deficiency was first reported in the 1990s, it is now again relevant due to a national vitamin and trace element shortage. A high index of suspicion may be necessary to diagnose zinc deficiency, particularly because early clinical findings are nonspecific. We present this case of acquired zinc deficiency in a patient admitted to a pediatric intensive care unit for respiratory distress and atypical pneumonia, who subsequently developed a severe bullous eruption due to iatrogenic zinc deficiency but was treated effectively with enteral and parenteral zinc supplementation, allowing for rapid re-epithelialization of previously denuded skin.
Assuntos
Acrodermatite/diagnóstico , Desnutrição/diagnóstico , Nutrição Parenteral Total/efeitos adversos , Zinco/deficiência , Acrodermatite/tratamento farmacológico , Acrodermatite/etiologia , Acrodermatite/patologia , Biópsia por Agulha , Criança , Serviço Hospitalar de Emergência , Humanos , Doença Iatrogênica , Imuno-Histoquímica , Unidades de Terapia Intensiva , Masculino , Desnutrição/etiologia , Multimorbidade , Nutrição Parenteral Total/métodos , Pneumonia Bacteriana/diagnóstico , Pneumonia Bacteriana/terapia , Prognóstico , Doenças Raras , Insuficiência Respiratória/diagnóstico , Insuficiência Respiratória/terapia , Medição de Risco , Resultado do Tratamento , Zinco/administração & dosagemRESUMO
Zinc deficiency is an uncommon condition, known to occur in two forms: inherited type, known as Acrodermatitis enteropathies and the acquired type. Cutaneous clinical manifestations observed include characteristic dermatitis on acral, periorificial, and anogenital areas through an unknown mechanism. The patient had a combination of causes which lead to a state of zinc deficiency. We are presenting it due to the rarity of acquired acrodermatitis in patients of gastrointestinal tuberculosis and renal transplant recipients. We emphasize the awareness about this condition, especially in resource-poor settings, where serum zinc levels may not be available, and a trial of oral zinc may be given.
Assuntos
Acrodermatite/tratamento farmacológico , Suplementos Nutricionais , Transplante de Rim/efeitos adversos , Tuberculose Gastrointestinal/complicações , Sulfato de Zinco/administração & dosagem , Zinco/deficiência , Acrodermatite/diagnóstico , Acrodermatite/etiologia , Administração Oral , Biópsia , Feminino , Humanos , Pessoa de Meia-Idade , Pele/patologia , Resultado do Tratamento , Tuberculose Gastrointestinal/diagnóstico , Tuberculose Gastrointestinal/microbiologiaRESUMO
RESUMO Objetivo: Relatar um caso de acrodermatite enteropática, doença rara com herança autossômica recessiva. Relato de caso: Menino de 11 meses de idade apresentava lesões eritematosas simétricas na face, pés, mãos e joelhos, diarreia intermitente, febre e infecções recorrentes desde os seis meses de idade. Ele estava emagrecido e tinha cabelos escassos no couro cabeludo. Foi solicitada a avaliação da concentração sérica de zinco e identificado um nível reduzido de 27,0 mcg/dL (valores de referência: 50,0-120,0). Foi iniciada a suplementação oral com 2,0 mg/kg/dia de sulfato de zinco. Houve melhora rápida e progressiva dos sintomas. Os sintomas reapareceram quando houve uma tentativa de descontinuar a suplementação. Comentários: Reconhecer e tratar adequadamente a acrodermatite enteropática é importante para evitar as complicações da doença.
ABSTRACT Objective: To report a case of acrodermatitis enteropathica, a rare disease with autosomal recessive inheritance. Case description: An 11-month-old boy was presenting symmetrical erythematous and yellowish-brownish crusted lesions on his face, feet, hands and knees, intermittent diarrhea, fever, and recurrent infections since the age of six months. He was thin and had scarce hair on the scalp. The serum zinc level was measured and a reduced level of 27.0 mcg/dL (normal range: 50.0-120.0) was identified. Oral supplementation with 2.0 mg/kg/day of zinc sulfate was immediately initiated. A rapid and progressive improvement of symptoms was observed. The symptoms reappeared with an attempt to stop supplementation. Comments: Recognizing and properly treating acrodermatitis enteropathica is important to prevent complications.
Assuntos
Humanos , Feminino , Lactente , Zinco/deficiência , Acrodermatite/diagnósticoRESUMO
OBJECTIVE: To report a case of acrodermatitis enteropathica, a rare disease with autosomal recessive inheritance. CASE DESCRIPTION: An 11-month-old boy was presenting symmetrical erythematous and yellowish-brownish crusted lesions on his face, feet, hands and knees, intermittent diarrhea, fever, and recurrent infections since the age of six months. He was thin and had scarce hair on the scalp. The serum zinc level was measured and a reduced level of 27.0 mcg/dL (normal range: 50.0-120.0) was identified. Oral supplementation with 2.0 mg/kg/day of zinc sulfate was immediately initiated. A rapid and progressive improvement of symptoms was observed. The symptoms reappeared with an attempt to stop supplementation. COMMENTS: Recognizing and properly treating acrodermatitis enteropathica is important to prevent complications.
OBJETIVO: Relatar um caso de acrodermatite enteropática, doença rara com herança autossômica recessiva. RELATO DE CASO: Menino de 11 meses de idade apresentava lesões eritematosas simétricas na face, pés, mãos e joelhos, diarreia intermitente, febre e infecções recorrentes desde os seis meses de idade. Ele estava emagrecido e tinha cabelos escassos no couro cabeludo. Foi solicitada a avaliação da concentração sérica de zinco e identificado um nível reduzido de 27,0 mcg/dL (valores de referência: 50,0-120,0). Foi iniciada a suplementação oral com 2,0 mg/kg/dia de sulfato de zinco. Houve melhora rápida e progressiva dos sintomas. Os sintomas reapareceram quando houve uma tentativa de descontinuar a suplementação. COMENTÁRIOS: Reconhecer e tratar adequadamente a acrodermatite enteropática é importante para evitar as complicações da doença.
Assuntos
Acrodermatite/diagnóstico , Zinco/deficiência , Humanos , Lactente , MasculinoAssuntos
Acrodermatite , Nutrição Parenteral Total/efeitos adversos , Pele/patologia , Zinco/deficiência , Acrodermatite/sangue , Acrodermatite/diagnóstico , Acrodermatite/etiologia , Acrodermatite/terapia , Adulto , Fosfatase Alcalina/sangue , Biópsia/métodos , Suplementos Nutricionais , Feminino , Humanos , Síndrome do Intestino Curto/complicações , Síndrome do Intestino Curto/terapia , Oligoelementos/administração & dosagem , Oligoelementos/sangue , Resultado do Tratamento , Zinco/administração & dosagem , Zinco/sangueRESUMO
Acrodermatitis enteropathica (AE) is a rare inherited zinc deficiency that usually manifests in infancy within days in cases of bottlefed infants and days to weeks after weaning in breastfed infants. It is characterised by diarrhoea, dermatitis, alopecia and systemic symptoms. We report a case of acquired nutritional AE in a 6-month-old female infant who had diarrhoeal episodes and the characteristic dermatitis lesions in the acral and anogenital regions. She responded dramatically to oral zinc supplementation.