RESUMEN
Elastic pseudoxanthoma is a rare disease with autosomal recessive inheritance, also known as Grönblad-Strandberg syndrome, characterized by pathological mineralization of the elastic fibers in the connective tissue, affecting principally the dermis of skin, media, and intima of blood vessels and Bruch's membrane of the eye. The genetic defect of the disorder is located on chromosome 16p13.1 and disease is caused by the lack of functional ABCC6 protein, which in turn causes extracellular accumulation and deposition of calcium and other minerals in the elastic tissue. In this article we present two cases of this rare disease. We emphasize, in the diagnostic criteria, the importance of its early diagnosis and the current therapeutic approaches.
RESUMEN
We present a one-year-old girl with maple syrup urine disease with dermatitis secondary to the restriction of amino acids as part of the treatment. We present the clinical evolution and histopathological correlation.
Asunto(s)
Aminoácidos de Cadena Ramificada/administración & dosificación , Dermatitis/etiología , Leucina/deficiencia , Desnutrición/complicaciones , Enfermedad de la Orina de Jarabe de Arce/complicaciones , Piel/patología , Aminoácidos de Cadena Ramificada/sangre , Dermatitis/patología , Femenino , Humanos , Lactante , Enfermedad de la Orina de Jarabe de Arce/dietoterapiaRESUMEN
BACKGROUND: Malar melasma has a chronic and recurrent character that may be related to epigenetic changes. OBJECTIVE: To recognize the expression and DNA methylation of DNA methyltransferases (DNMTs) in malar melasma and perilesional skin, as well as the changes in DNMTs after their treatment with sunscreen in combination with 4% niacinamide, 0.05% retinoic acid, or placebo. METHODS: Thirty female patients were clinically evaluated for the expression of DNMT1 and DNMT3b using real-time PCR and immunofluorescence. These initial results were compared to results after eight weeks of treatment with sunscreen in combination with niacinamide, retinoic acid, or placebo. RESULTS: The relative expression of DNMT1 was significantly elevated in melasma compared with unaffected skin in all subjects, indicating DNA hypermethylation. After treatment, it was decreased in all groups: niacinamide (7 versus 1; p<0.01), retinoic acid (7 versus 2; p<0.05), and placebo (7 versus 3; p<0.05), which correlates with clinical improvement. DNMT3b was not overexpressed in lesional skin but reduced in all groups. CONCLUSIONS: We found DNA hypermethylation in melasma lesions. Environmental factors such as solar radiation may induce cellular changes that trigger hyperpigmentation through the activation of pathways regulated by epigenetic modifications. However, limiting or decreasing DNA methylation through sunscreen, niacinamide, and retinoic acid treatments that provide photoprotection and genetic transcription can counteract this.
Asunto(s)
Metilasas de Modificación del ADN/metabolismo , Melanosis/tratamiento farmacológico , Melanosis/enzimología , Niacinamida/uso terapéutico , Protectores Solares/uso terapéutico , Tretinoina/uso terapéutico , 5-Metilcitosina/metabolismo , Adulto , Metilación de ADN , Metilasas de Modificación del ADN/genética , Epidermis/efectos de los fármacos , Epidermis/patología , Femenino , Fluorescencia , Regulación Enzimológica de la Expresión Génica/efectos de los fármacos , Humanos , Placebos , Protectores Solares/farmacologíaRESUMEN
Mitochondrial myopathies are inborn metabolism defect diseases manifested by symptoms reflecting failure of the final step in the mitochondrial respiratory chain. Clinical expression of these conditions can vary widely, but typically includes organ systems with a high energy demand, such as striated muscle, myocardium, and nervous and liver tissues. In contrast, cutaneous manifestations are rare and are non-specific, most commonly presenting as pigmentation disorders. In this case report, we present a case of Alpers syndrome accompanied by hyperpigmentation and atrophy in skin folds.
Asunto(s)
Hiperpigmentación/etiología , Miopatías Mitocondriales/complicaciones , Piel/patología , Atrofia/diagnóstico , Atrofia/etiología , Diagnóstico Diferencial , Humanos , Hiperpigmentación/diagnóstico , Lactante , Masculino , Miopatías Mitocondriales/diagnóstico , Músculo Esquelético/patologíaRESUMEN
Hailey-Hailey disease (HHD), also known as benign familial pemphigus, is an autosomal dominant skin condition that affects the adhesion of epidermal keratinocytes. Although the initial manifestation of flaccid vesicles on erythematous or normal skin in flexure sites frequently goes unnoticed, large, macerated, exudative plaques of superficial erosions with crusting are observed at the time of diagnosis. There is no specific treatment for HHD, and most cases are symptomatically supported. However, infrared laser ablation has been somewhat helpful. We present a case successfully treated with fractional CO2 laser showing a long-term favourable outcome and no adverse effects. Thus, this modality could be an alternative to full ablation for this condition.