[Disseminated nodular primary localized cutaneous amyloidosis]. / Amiloidosis cutánea primaria localizada nodular con patrón diseminado.

Amyloid is a proteinaceous material that is deposited in the tissues in a large variety of clinical contexts; in the skin it can be found with or without concomitant systemic disease. Primary localized cutaneous amyloidosis encompasses those amyloidoses restricted to the skin without involvement of other systems. The most common forms within this group are macular and lichen amyloidosis. Nodular amyloidosis is extremely rare, and there are notable differences in clinical presentation, prognosis, histology, and pathogenesis between this entity and the macular and lichenoid variants. We report a new case of nodular primary localized cutaneous amyloidosis with disseminated plaques and nodules in which no systemic disease developed in the 3 years following the appearance of the lesions.

Amiloidosis cutánea primaria localizada nodular con patrón diseminado / Disseminated nodular primary localized cutaneous amyloidosis

El amiloide es un material proteináceo que se deposita en los tejidos en una gran variedad de situaciones clínicas; en la piel puede ser hallado con o sin afectación sistémica concomitante. La amiloidosis cutánea primaria localizada designa a aquellas amiloidosis con afectación exclusivamente cutánea, sin afectación a otros niveles. Las formas más comunes dentro de este grupo son la amiloidosis macular y el liquen amiloideo. La amiloidosis nodular es extremadamente infrecuente y mantiene importantes diferencias clínicas, pronósticas, histológicas y patogénicas con respecto a las variantes macular y liquenoide. Presentamos un nuevo caso de amiloidosis cutánea primaria localizada nodular con placas y nódulos diseminados, que no desarrolló afectación sistémica tras tres años desde el debut de las lesiones (AU)

Amyloid is a proteinaceous material that is deposited in the tissues in a large variety of clinical contexts; in the skin it can be found with or without concomitant systemic disease. Primary localized cutaneous amyloidosis encompasses those amyloidoses restricted to the skin without involvement of other systems. The most common forms within this group are macular and lichen amyloidosis. Nodular amyloidosis is extremely rare, and there are notable differences in clinical presentation, prognosis, histology, and pathogenesis between this entity and the macular and lichenoid variants. We report a new case of nodular primary localized cutaneous amyloidosis with disseminated plaques and nodules in which no systemic disease developed in the 3 years following the appearance of the lesions (AU)

Pápulas y nódulos violáceos en caras anteriores de manos / Violaceous papules and nodules on the palmar aspects of the hands

No disponible

No disponible

[Incontinentia pigmenti: three new cases that demonstrate it is not only a matter of women]. / Incontinentia pigmenti: tres nuevos casos que demuestran que no es sólo cosa de mujeres.

Incontinentia pigmenti is a rare, dominantly X-linked genodermatosis characterized by multisystemic involvement that is lethal prenatally in the majority of affected males and shows great clinical variability when it is expressed in women. Recently it has been shown that mutations of the gene NEMO/IKK-g located in Xq28 cause the expression of the disease, being only one mutation responsible for approximately 80 % of the cases. The diagnosis of incontinentia pigmenti is performed based on clinical features and family history with the support of histological findings. Nevertheless, as the gene responsible for the phenotype of the disease has been identified, a genetic study may be employed for doubtful cases. We report three cases of this entity (two women and one man) in different clinical stages of development that show the broad clinical spectrum we may encounter in the clinic.

Incontinentia pigmenti: tres nuevos casos que demuestran que no es sólo cosa de mujeres / Incontinentia pigmenti: three new cases that demostrate it is not only a matter of women

La incontinentia pigmenti es una genodermatosis infrecuente con carácter multisistémico que sigue un patrón de herencia dominante ligado a X, por lo que resulta letal en la mayoría de varones afectados intraútero y muestra gran variabilidad clínica cuando se expresa en mujeres. Recientemente se ha encontrado que las mutaciones del gen NEMO/IKK-g localizado en Xq28 causan la expresión de la enfermedad, siendo una única mutación la responsable de aproximadamente un 80 % de los casos. La incontinentia pigmenti interesa a varias especialidades médicas, aunque son la clínica cutánea y la historia familiar las que marcan el diagnóstico, ayudadas de los hallazgos histológicos. No obstante, la identificación reciente del gen responsable del fenotipo de la enfermedad permite la resolución de muchos casos dudosos mediante estudio genético. Presentamos a continuación tres nuevos casos de esta patología (dos mujeres y un varón) en diferentes estadios evolutivos, que muestran el amplio espectro clínico con el que esta patología puede llegar a nuestra consulta

Incontinentia pigmenti is a rare, dominantly X-linked genodermatosis characterized by multisystemic involvement that is lethal prenatally in the majority of affected males and shows great clinical variability when it is expressed in women. Recently it has been shown that mutations of the gene NEMO/IKK-g located in Xq28 cause the expression of the disease, being only one mutation responsible for approximately 80 % of the cases. The diagnosis of incontinentia pigmenti is performed based on clinical features and family history with the support of histological findings. Nevertheless, as the gene responsible for the phenotype of the disease has been identified, a genetic study may be employed for doubtful cases. We report three cases of this entity (two women and one man) in different clinical stages of development that show the broad clinical spectrum we may encounter in the clinic

[Acrocyanosis as a form of presentation of progressive systemic sclerosis]. / Acrocianosis como forma de debut de una esclerosis sistémica progresiva.

Acrocyanosis is an infrequent entity characterized by persistent and symmetrical erythrocyanotic discoloration of the hands, feet and face, which is not preceded by episodes of previous paleness. Acrocyanosis can be secondary to a variety of underlying causes, but is uncommon as a form of presentation of systemic sclerosis. We present a new clinical case of this disease and discuss its etiopathogenic, clinical, diagnostic and therapeutic characteristics; in addition to, we seek to distinguish this term from others that might be confused in the literature.

Acrocianosis como forma de debut de una esclerosis sistémica progresiva / Acrocyanosis as a form of presentation of systemic sclerosis

La acrocianosis es un cuadro clínico caracterizado por una coloración azul violácea persistente y simétrica de zonas acras, principalmente manos y pies, que no está precedida por episodios de palidez previos. Es una entidad que puede asociarse a diversas causas subyacentes, pero es infrecuente que lo haga como forma de debút de una esclerosis sistémica progresiva. Se presenta a continuación un nuevo caso de esta patología y se comentan sus características etiopatogénicas, clínicas y diagnósticas más relevantes además de un intento de diferenciar este término de otros con los que existe confusión en la literatura

Acrocyanosis is an infrequent entity characterized by persistent and symmetrical erythrocyanotic discoloration of the hands, feet and face, which is not preceded by episodes of previous paleness. Acrocyanosis can be secondary to a variety of underlying causes, but is uncommon as a form of presentation of systemic sclerosis. We present a new clinical case of this disease and discuss its etiopathogenic, clinical, diagnostic and therapeutic characteristics; in addition to, we seek to distinguish this term from others that might be confused in the literature