Clinical insights from an unusual Turner syndrome manifestation: Congenital cutis verticis gyrata.

Cutis verticis gyrata (CVG) is classified as primary or secondary according to the absence or presence of underlying soft tissue abnormalities. We report an infant with Turner syndrome (TS) who in addition presented with CVG on the scalp. The skin biopsy revealed a hamartoma-like lesion. We reviewed the clinical and histopathological findings of the 13 reported cases of congenital CVG in patients with TS, including ours. In 11 of them, CVG was localized on the skin of the scalp, mainly on the parietal region, and in two, on the forehead. Clinically, CVG had a flesh-colored aspect, with absent or sparse hair, and was not progressive. CVG was classified as primary in four patients who had skin biopsy and it was attributed to the intrauterine lymphedema of TS. However, histopathology in two of these patients identified dermal hamartoma as a secondary cause of CVG, and in three others, including ours, there were hamartomatous changes. Although further studies are required, previous findings support the proposal that some CVG may instead be dermal hamartomas. This report alerts clinicians to recognize CVG as a low-frequency manifestation of TS, but also to consider the possible co-occurrence of TS in all female infants with CVG.

Sweet Syndrome in an Adolescent Patient With Differentiation Syndrome Secondary to Promyelocytic Leukemia Treatment With All-Trans Retinoic Acid.

Sweet syndrome (SS) is an acute febrile neutrophilic dermatosis that is histologically characterized by an infiltration of the dermis by neutrophils. A 12-year-old adolescent female patient recently diagnosed with acute promyelocytic leukemia presented with fever and was hospitalized for antibiotic management after 22 days of being treated with a treatment protocol based on daunorubicin, all-trans retinoic acid (ATRA), and prophylaxis with dexamethasone, the patient developed erythematous skin lesions located mostly on the extremities. Lesions evolved into painful subcutaneous nodules, and one lesion evolved into a 2.5-cm blister with a purple and necrotic base. A skin biopsy was performed and showed neutrophilic dermatosis which confirmed the diagnosis of SS. The patient's clinical features complied with criteria for differentiation syndrome complicated by shock. Two days after ATRA was suspended, the patient presented resolution of the fever and skin lesions. SS is a rare neutrophilic dermatosis secondary to an innate immune disorder classified into four categories: classical (idiopathic), para-inflammatory, paraneoplastic or pregnancy-related. SS has been described in patients with acute myeloid leukemia in adults secondary to the use of drugs such as ATRA or as a part of a paraneoplastic syndrome. SS can occur exceptionally in children with myeloid leukemia secondary to the use of drugs such as ATRA.

Importancia de la laparoscopia diagnóstica en la detección de implantes tumorales. Reporte de un caso / Importance of diagnostic laparoscopy in the detection of tumor implants. A case report

Resumen ANTECEDENTES: Los tumores malignos de células germinales de ovario constituyen un grupo heterogéneo de neoplasias de rápida evolución a la malignización, que suelen aparecer durante las dos primeras décadas de la vida. La prevalencia en México es de 3.4% de los tumores ováricos. El 10% de las pacientes afectadas padece dolor abdominal agudo por distención capsular, necrosis, hemorragia, rotura o torsión. CASO CLÍNICO: Paciente de 17 años, acudió al servicio de Urgencias por dolor pélvico de inicio súbito. En la laparotomía se encontró una torsión ovárica secundaria a una tumoración anexial derecha; por eso se le efectuó la salpingooferectomía. Se detectó elevada concentración de alfa-fetoproteína (10,702 ng/mL); el servicio de Oncología pediátrica indicó quimioterapia durante dos años; sin embargo, después de suspender el tratamiento persistió elevada su concentración. El ultrasonido y PET-SCAN no evidenciaron enfermedad activa. En la laparoscopia diagnóstica se observaron múltiples implantes tumorales. El reporte histopatológico fue de tumoración de senos endodérmicos. La paciente se envió, nuevamente, a Oncología pediátrica para continuar con quimioterapia y radioterapia. En la actualidad permanece estable, con descenso de la concentración de alfa-fetoproteína (última determinación: 1200 ng/mL). CONCLUSIÓN: La importancia de la laparoscopia toma relevancia en este tipo de casos, cuando existe discordancia entre los estudios bioquímicos y de imagen (ultrasonido y PET-SCAN); además, orienta hacia un diagnóstico más certero, mediante la visualización y obtención de biopsias directas, con la finalidad de establecer el tratamiento específico.

Abstract BACKGROUND: Malignant germ cell tumors of the ovary constitute a heterogeneous group of highly malignant and rapidly progressive neoplasms that usually appear during the first two decades of life. Its frequency in Mexico is 3.4% on ovarian tumors. Approximately 10% of affected patients report acute abdominal pain due to capsular distension, necrosis, hemorrhage, rupture or torsion. CLINICAL CASE: A 17 years-old patient, who went to the Emergency Department for pelvic pain of sudden onset. It was decided to perform a laparotomy and ovarian torsion was found secondary to a right adnexal tumor, so salpingo-ophorectomy was performed. High alpha-fetoprotein concentration (10.702 ng/mL) was detected; the Pediatric Oncology Service indicated chemotherapy for two years; however, after stopping the treatment, its concentration persisted. The ultrasound and PET-SCAN did not show active disease, so it was sent to the gynecological endoscopy service, where they performed diagnostic laparoscopy, observing multiple tumor implants. The histopathological results was endodermal sinus tumor. The patient was sent, again, to Pediatric Oncology to continue with chemotherapy and radiotherapy. It is currently stable, with a decrease in values of alpha-fetoprotein (last determination: 1200 ng/mL). CONCLUSION: The importance of diagnostic laparoscopy is especially relevant in this type of cases when there is disagreement between biochemical and imaging studies (ultrasound and PET-SCAN), which through laparoscopy guides us towards a more accurate diagnosis through visualization and direct biopsy taking sample and give a directed management.