Nevoid basal cell carcinoma syndrome: our experience in a pediatric hospital.

Nevoid basal cell carcinoma (BCC) syndrome, or Gorlin syndrome, is a rare autosomal dominant disorder associated with mutations in the patched 1 gene, PTCH1. It is characterized by the presence of multiple BCCs in association with disorders affecting the bones, the skin, the eyes, and the nervous system. We describe 6 cases of nevoid BCC syndrome evaluated in our department. Palmoplantar pitting was observed in all 6 patients, multiple BCCs in 5 patients (83%), skeletal anomalies in 3 patients (50%), and odontogenic keratocysts in 1 patient (17%). We would like to stress the importance of early diagnosis and treatment in nevoid BCC syndrome and the need for continuous, long-term follow-up by a multidisciplinary team.

Haga su diagnóstico / Make your diagnosis

El diagnóstico es Pitiriasis liquenoide crónica

Perianal ulcers on a segmental hemangioma with minimal or arrested growth.

Hemangiomas with minimal or arrested growth are a type of infantile hemangioma in which the proliferative component characteristic of such lesions is not observed or accounts for less than 25% of the surface area of the hemangioma. For this reason, these lesions are frequently confused with capillary vascular malformations or may even go undetected. Awareness of these lesions is, however, important because they can become ulcerated, as occurs with typical infantile hemangiomas. A proper diagnosis is therefore important to enable administration of appropriate treatment. We present the case of a 3-month-old girl with slowly progressing perianal ulcers first detected when she was 20 days old. She had received many different therapies without any response. A pathology study of the ulcer showed a GLUT-1-positive infantile hemangioma. Response to treatment with propranolol 2mg/kg/d and local wound care was excellent.

[Paraneoplastic pemphigus or paraneoplastic autoimmune multiorgan syndrome. Report of 2 cases in children and a review of the literature]. / Pénfigo paraneoplásico/síndrome multiorgánico autoinmune paraneoplásico. Presentación de dos casos en la edad infantil. Revisión de la literatura.

Paraneoplastic pemphigus is an autoimmune blistering disease associated with an occult or previously diagnosed tumor. Its clinical, histological, and immunological features have been clearly defined. It is characterized by the presence of polymorphic skin lesions and by erosions of the oral and genital mucosas that are refractory to conventional treatments. The histology can be variable and includes acantholysis or lichenoid dermatitis. Circulating autoantibodies are a constant feature and confirm the diagnosis. We describe 2 girls with paraneoplastic pemphigus associated with Hodgkin lymphoma in one and Castelman disease in the other. Both children had oral and genital lesions that did not respond to conventional treatments. Biopsy revealed acantholysis in one and a lichenoid reaction in the other, and immunoassays confirmed the diagnosis. Chemotherapeutic treatment of the underlying disease was performed in both cases, together with high-dose corticosteroids for the skin and mucosal lesions. Both patients died due to respiratory failure. We suggest that paraneoplastic pemphigus, although rare in childhood and adolescence, should be included in the differential diagnosis of periorificial erosive dermatitis; this may assist in the detection of an occult neoplasm.

Enfermedad de injerto contra huésped crónica / Chronic graaft versus host disease

La enfermedad de injerto contra huésped crónica (EICHc) es la principal causa de mortalidad tardía relacionada con el transplante alogénico de células progenitoras hematopoyéticas (TACPH) y causa importante de morbilidad. Se analizó la forma de presentación, evolución, respuesta al tratamiento y complicaciones de un grupo de niños y adolescentes que presentaron EICHc luego de recibir un TACPH. La EICHc fue clasificada según su relación con la EICH aguda en progresiva, quiescente o de novo. Según su extensión se clasificó en limitada o extensa. Durante el período estudiado recibieron un TACHP 140 pacientes. Treinta y uno (22%) de ellos presentaron EICHc. La enfermedad fue extensa en 18 casos y limitada en 13. Al diagnóstico 6 ptes. presentaron plaquetopenia. Recibieron tratamiento 28 ptes. 24 con prednosina, 3 con prednisona y ciclosporina, y 1 con PUVA. Respondieron al tratamiento inicial 61% de los tratados por enfermedad extensa y el 86% de aquellos con enfermedad limitada. En los ptes. que no respondieron al tratamiento inicial se agregaron otras drogas como azatioprina, talidomida, tacrolimus y micofenolato. Todos los ptes. recibieron profilaxis para infecciones por bacterias capsuladas y pneumocistis carinii. se registraron 10 infecciones graves (ocho neumonías, una sepsis y una infección del SNC). la mortalidad relaconada con el transplante fue del 16% (4 ptes. por infección y 1 pte. por bronquiolitis obliterante). Se observaron como secuelas cataratas (4), necrosis aséptica de cadera (3) y déficit hormonales (2). Los sobrevivientes presentaron una buena capacidad funcional de acuerdo a los scores de Lansky y/o Karnosfky. palabras clave: enfermedad de injerto contra huésped, transplante alogénico de células progenitoras hematopoyéticas.