Neurofibromatosis tipo 1. Más allá de las manchas café con leche: ¿es necesario actualizar criterios? / Neurofibromatosis type 1. Beyond to café-au-lait spots: necessary update criteria?

Neurofibromatosis type 1 (NF1) is the most common neurocutaneous syndrome. Diagnosis is based on clinical findings that meets the criteria developed by the NIH in 1997, which remain highly sensitive and specific in adults, but not in children, in which the manifestations vary with age. In children under 2 years in the pretumoral stage with a negative family history, it would be useful to have additional clinical diagnostic criteria. Genetic testing is not widely available and although café-au-lait spots remain the cardinal and most frequent clinical sign, they cannot make the diagnosis of NF-1 on their own. (AU)

Manifestaciones cutáneas de enfermedades gastrointestinales / Cutaneous manifestations of gastrointestinal diseases

The gastrointestinal system is closely related to the skin. Multiple disorders of the gastrointestinal tract that manifest clinically on the skin surface are recognized, which can even occur before establishing the definitive diagnosis of the disease. For this reason, it is necessary that the dermatologist is internalized regarding the wide variety of clinical signs that can guide the etiological study, which requires in most cases, a multidisciplinary management. (AU)

Enfermedad de Grover, una patología ampollar poco frecuente: a propósito de 2 casos / Grover's disease, a pathology blistering unusual: About 2 cases

Grover's disease (GD) or transient acantholytic dermatosis, is a papulovesicular pruritic disease of unknown etiology. It´s most important histopathological finding is the presence of focal acantholysis. The incidence has not been firmly established. Case report: We report two cases of papulovesicular rashes, the first one in a 79 year old man with good response to second line treatment and the second one, in a 30 year old woman. Both with different suspected triggering factors. Comment: GD predominates in white men with an average age of presentation of 61. Clinically, it presents as erythematous papules, crusted-papule and is usually pruritic. The etiopathology is still unknown, but it is associated with triggers such as: ultraviolet radiation (UVR), ionizing radiation, heat, sweat, friction and chemotherapy. Acantholysis is the classic histological finding. Management includes general measures, topical corticosteroids, calcineurin inhibitors, tretinoin, calcipotriene and antihistamines. In refractory cases, second-line treatment is used: oral isotretinoin, systemic corticosteroids and phototherapy. Paradoxically, phototherapy can also trigger GD. Conclusions: Due to the low prevalence of GD in Chile, 2 new cases are provided to the literature. In both cases, the diagnostic presumption was based on an exhaustive clinical history, confirmed by histopathological findings. (AU)