RESUMO
Papillon-Lefèvre syndrome (PLS) is a rare inherited palmoplantar keratoderma (PPK) that is associated with progressive gingivitis and recurrent pyodermas. We present a case exhibiting classic features of this autosomal-recessive condition and review the current understanding of its pathophysiology, diagnosis, and treatment. Additionally, a review of pertinent transgredient PPKs is undertaken, with key and distinguishing features of each syndrome highlighted.
Assuntos
Gengivite/etiologia , Doença de Papillon-Lefevre/fisiopatologia , Pioderma/etiologia , Adulto , Catepsina C/genética , Progressão da Doença , Feminino , Gengivite/tratamento farmacológico , Gengivite/patologia , Humanos , Mutação , Doença de Papillon-Lefevre/tratamento farmacológico , Doença de Papillon-Lefevre/genética , Pioderma/patologia , RecidivaRESUMO
Chronic granulomatous disease (CGD) is a rare, inherited disorder, in which phagocytic cells, through an enzyme defect, are unable to produce microbicidal oxidants; affected individuals are thereby unduly susceptible to certain life-threatening bacterial and fungal infections and require lifelong antibiotic and antifungal prophylaxis. We present the case of an adolescent CGD patient whose recalcitrant acne vulgaris and subsequent recurrent facial abscesses were successfully treated with isotretinoin; swift resolution of this and similar patients' acne lesions is paramount, as these lesions may serve as a portal of entry for systemic infections and may pose a significant risk for scarring. Isotretinoin is associated with an increased rate of cutaneous Staphylococcus aureus carriage as well as exuberant granulation responses, both of theoretical concern in CGD patients. The therapeutic outcome of isotretinoin in treatment-resistant cases of acne in CGD patients has not been reported in the literature; we present this case to advocate an underreported use of isotretinoin in the prevention of acne, its subsequent cyst formation, and scarring patients with CGD.