Henoch–Schönlein purpura (HSP) is characterized by nonthrombocytopenic palpable purpura, arthritis or arthral­gia, and gastrointestinal and/or renal involvement. Gastrointestinal symptoms are reported in 50%-75% and they are related to a previous group A streptococcal infection in 40%. A healthy 5-year-old girl presented with a three-week history of a recurrent purpuric rash on the lower limbs, ar­thralgia and angioedema, without renal involvement. During the third relapse, she had severe, diffuse and persistent abdominal pain and bloody stools. An abdominal ultrasound revealed transmural edema of the last ileal segment, compatible with ileitis. She received prednisolone for five days, with full clinical recovery. Antistreptolysin O titer was elevated. The remaining laboratory tests were normal (antinuclear, anti-neutrophil and anti-Saccharomyces cerevisiae antibodies; rheumatoid factor; stool cultures, parasitological examination and viral antigen tests). One month later, an abdominal ultrasound revealed no abnormalities. Terminal ileitis is a very rare complication of HSP in children but has a good prognosis.

Neonatal cutaneous alterations are common, usually appearing at birth or during the first few days of life. Most of these conditions are physiological, benign, and transient, arising from a combination of immaturity of the newborn skin with environmental factors. Nonetheless, some of them may eventually be a clue to underlying disorders. Physicians should therefore be aware of these clinical manifestations so that parents can be reassured and, when necessary, complementary investigations can be undertaken.

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.

Primary inherited epidermal growth factor receptor defects have recently been described in severe inflammatory skin disease and diarrhoea case reports. We describe two case reports of female preterm newborns of Roma consanguineous parents who presented both with alopecia and erythroderma/ichthyosis, in addition to nephromegaly at birth in case 1. Later, they both developed hypomagnesaemia and other severe hydroelectrolyte disturbances, recurrent life-threatening sepsis and failure to thrive. Exome sequencing identified a homozygous mutation in the epidermal growth factor receptor, rarely described. Despite optimization of medical supportive care, the prognosis was poor and both patients died before the first year of life. There are few similar cases of epidermal growth factor receptor homozygous mutation reported so far. Our manuscript describes the genetics, clinical presentation, and complex treatment of our two patients, aiming to contribute to new advances in the management of this condition.

INTRODUÇÃO: A asma continua a ser a doença crónica mais frequente na população pediátrica. O seu controlo é condicionado negativamente pela utilização incorreta dos dispositivos para terapêutica inalatória. A demonstração da técnica de utilização correta a pais ou cuidadores parece estar associada a uma redução da taxa de erro. Este estudo intervencional prospetivo pretendeu confirmar a hipótese de que a demonstração repetida da técnica inalatória a pais e cuidadores tem impacto positivo na adesão dos doentes, reduzindo a taxa de erro.MÉTODOS: Cem participantes expuseram a sua técnica inalatória em consultas sequenciais (51 em 3 consultas; e 19 em 2 consultas) com preenchimento de formulário pelo médico assistente com registo “sim” ou “não” em diferentes passos relacionados com a técnica inalatória, lavagem da boca e cuidados com a câmara.RESULTADOS: Trinta doentes foram excluídos, pois só tinham uma observação. Idade média de 2,8 anos (±1,9 anos), 63% rapazes. Ao longo do estudo, 43 participantes reduziram a taxa de erro, 11 mantiveram o erro e 16 apresentaram uma técnica correta desde o início. Verificou-se uma redução substancial da taxa de erro da técnica inalatória (p-value 0,019), bem como da lavagem da boca (p-value 0,000) e da câmara expansora (p-value 0,038). Os únicos fatores associados à redução da taxa de erro foram a demonstração prévia da técnica (p-value 0,003) e o uso prévio do dispositivo inalatório (p-value 0,038).CONCLUSÃO: A demonstração da técnica inalatória correta por um médico teve um impacto positivo imediato na redução do erro, que foi amplificado pela realização de demonstrações sequenciais.