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Prurigo pigmentosa (PP) is probably underdiagnosed due to lack of awareness. Previously, it was assumed that PP primarily affected Japanese females; however, more cases are reported worldwide, and the pathogenesis is still not completely understood. In this case report, we present two healthy Danish siblings, who developed PP approximately 2 weeks after starting a ketogenic diet, suggesting that both increased levels of ketone bodies in the blood together with a genetic predisposition might play a role in the development of PP.
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This case report presents an acute painful skin reaction several years after injection of site-enhancing oils (SEO) induced by chemotherapy. This case exemplifies the long-term dangerous side effects of the use of SEO, however treatable with prednisolone.
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Remember EPFI as a differential diagnosis in children with a rash on the scalp and no effect of antibiotic treatment.
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Aquagenic wrinkling of the palms was first described in 1974. This review summarises the present knowledge. Aquagenic wrinkling of the palms is most often associated with cystic fibrosis, but several other associated conditions are described. Patients report of pruritus, pain and discomfort in the palms after contact with water, and excessive wrinkling is visible. The prognosis is good, and symptoms often decrease in adulthood. A positive water exposure test will support the diagnosis, and the patient should be referred for dermatological investigation and genetic test for cystic fibrosis should be offered.
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Fibrose Cística , Envelhecimento da Pele , Adulto , Fibrose Cística/complicações , Fibrose Cística/genética , Testes Genéticos , Humanos , Doenças Raras , ÁguaRESUMO
Treatment with Tenutex® should be considered in patients diagnosed with scabies if the first-line treatment with 5% permethrin fails. Treatment failure with 5% permethrin may be due to tolerance or resistance in scabies mites.
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Patients who are undergoing treatment with bleomycin and develop prurigo or rash should be suspected of bleomycin-induced flagellate erythema and treated early with antihistamines, topical, and oral corticosteroids.
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Idiopathic hypereosinophilic syndrome (IHES) is one of numerous hypereosinophilic syndromes. The incidence of IHES among children is unknown, but it is considered a rare disease. We report a pediatric case of IHES and the challenges to finding an effective treatment. The patient described here was responsive to prednisolone and thalidomide.
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Photoinduced acute exanthematous pustulosis is a rare condition; only few cases of photo-AEP have been described previously with drugs such as norfloxacin, ciprofloxacin, and enoxacin. In this case, the reaction is seen after intake of dicloxacillin.
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Hereditary leiomyomatosis and renal cell cancer is a genodermatosis with an autosomal dominant inheritance pattern. It is a tumour predisposition syndrome characterized by cutaneous and uterine leiomyomas, and increased susceptibility to develop renal cell carcinoma. There are 200-300 families with hereditary leiomyomatosis and renal cell carcinoma reported worldwide, but the syndrome is believed to be underdiagnosed. Cutaneous leiomyomas are small smooth muscle tumours that tend to grow over time. Larger lesions, in particular, can cause pain or itching. Uterine leiomyomas have a high penetrance in women with hereditary leiomyomatosis and renal cell cancer. They frequently cause symptoms, and surgical intervention is often necessary. Hereditary leiomyomatosis and renal cell cancer-associated renal cell carcinomas have a high potential to metastasize. Patients are diagnosed by genetic testing if a pathogenic mutation is demonstrated in the gene encoding fumarate hydratase. Immunohistochemistry may be a useful diagnostic approach in patients without a detectable pathogenic mutation. Diagnosed patients should be monitored for renal tumours in a lifelong surveillance programme.
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Leiomiomatose/diagnóstico , Síndromes Neoplásicas Hereditárias/diagnóstico , Neoplasias Cutâneas/diagnóstico , Neoplasias Uterinas/diagnóstico , Adulto , Feminino , Predisposição Genética para Doença , Humanos , Leiomiomatose/patologia , Masculino , Síndromes Neoplásicas Hereditárias/patologia , Neoplasias Cutâneas/patologia , Síndrome , Neoplasias Uterinas/patologia , Adulto JovemAssuntos
Epidermólise Bolhosa Distrófica/tratamento farmacológico , Naltrexona/uso terapêutico , Antagonistas de Entorpecentes/uso terapêutico , Pele/efeitos dos fármacos , Adulto , Criança , Colágeno Tipo VII/genética , Epidermólise Bolhosa Distrófica/genética , Epidermólise Bolhosa Distrófica/patologia , Predisposição Genética para Doença , Hereditariedade , Humanos , Masculino , Mutação , Fenótipo , Pele/patologia , Resultado do TratamentoRESUMO
Elastosis perforans serpiginosa (EPS) is a rare skin disease with elimination of connective tissue fibers from dermis to epidermis. The typical presentation shows hyperkeratotic red or skin-colored papules arranged in a circinate pattern. We present a 26-year-old woman with EPS known to have vascular Ehlers-Danlos syndrome.
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Síndrome de Ehlers-Danlos/complicações , Dermatopatias/diagnóstico , Adulto , Feminino , Humanos , Dermatopatias/complicações , Dermatopatias/patologiaRESUMO
[This corrects the article DOI: 10.1155/2017/1476402.].
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A 14-year-old girl and a 30-year-old woman presented with localised hyperhidrosis on the dorsal hand and wrist, respectively, provoked by different stimuli such as physical activity and minor trauma to the skin. The skin was seemingly normal in both patients where an iodine-starch test revealed a well-demarcated area of hyperhidrosis. Following histopathological examination, the diagnosis was unilateral localised hyperhidrosis in both cases; one with normal histology and one with a nevus sudoriferous. Both patients were successfully treated with botulinum toxin type A. The 30-year-old woman additionally used low-dose propantheline bromide periodically and experienced long-term remission on this therapy. Hyperhidrosis may embarrass and interfere with patients' school and careers, and it is therefore important to tailor an effective individual treatment.
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Atividades Cotidianas/psicologia , Toxinas Botulínicas Tipo A/uso terapêutico , Mãos/patologia , Hiperidrose/tratamento farmacológico , Fármacos Neuromusculares/uso terapêutico , Glândulas Sudoríparas/anormalidades , Adolescente , Adulto , Feminino , Humanos , Hiperidrose/diagnóstico , Hiperidrose/psicologia , Satisfação do Paciente , Glândulas Sudoríparas/patologia , Resultado do TratamentoRESUMO
Eruptive melanocytic nevi (EMN) is an unusual phenomenon characterized by the abrupt development of multiple melanocytic nevi over weeks to months in association with an underlying trigger. The underlying mechanisms are not fully understood, however, they have been associated with a variety of conditions. EMN is relatively uncommon and might be underreported due to the absence of close monitoring, insufficient recognition, and the presumed benign course of the condition. We describe the first case report of acral EMN associated with a burn wound on a 2-year-old child. Familiarity is important to differentiate EMN from neoplasms.
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Pai , Hereditariedade , Ictiose Lamelar/genética , Ictiose Lamelar/patologia , Queratina-10/genética , Mosaicismo , Mutação , Pele/patologia , Biópsia , Pré-Escolar , Análise Mutacional de DNA , Feminino , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , FenótipoRESUMO
Objective. To asses a cohort of 105 consecutive patients with angiotensin converting enzyme-inhibitor induced angioedema with regard to demographics, risk factors, family history of angioedema, hospitalization, airway management, outcome, and use of diagnostic codes used for the condition. Study Design. Cohort study. Methods. This was a retrospective cohort study of 105 patients with angiotensin converting enzyme-inhibitor induced angioedema in the period 1995-2014. Results. The cohort consisted of 67 females and 38 males (F : M ratio 1.8), with a mean age of 63 [range 26-86] years. Female gender was associated with a significantly higher risk of angiotensin converting enzyme-inhibitor induced angioedema. 6.7% had a positive family history of angioedema. Diabetes seemed to be a protective factor with regard to angioedema. 95% experienced angioedema of the head and neck. 4.7% needed intubation or tracheostomy. 74 admissions took place during the study period with a total of 143 days spent in the hospital. The diagnosis codes most often used for this condition were "DT783 Quincke's oedema" and "DT78.4 Allergy unspecified". Complement C1 inhibitor was normal in all tested patients. Conclusion. Female gender predisposes to angiotensin converting enzyme-inhibitor induced angioedema, whereas diabetes seems to be a protective factor.