RESUMEN
Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome is a rare, severe, and recently described multisystem developmental disorder characterized by delayed psychomotor development and intellectual disability, characteristic facial features, hypotonia, poor overall growth, and visual abnormalities. Mucocutaneous manifestations have not been reported so far among individuals with ZTTK syndrome. Herein, we present a patient with ZTTK syndrome due to a de novo mutation in SON gene, who has dental abnormalities and retronychia of the toenails. We suggest that mucocutaneous features may be a part of the phenotype.
Asunto(s)
Discapacidad Intelectual , Uñas Malformadas , Humanos , Discapacidad Intelectual/genética , Mutación , Uñas , Uñas Malformadas/genética , FenotipoRESUMEN
BACKGROUND: Recent reports indicate that tufted angioma is a rare vascular neoplasm that manifests more frequently at birth than previously thought. Few studies specifically address congenital presentation. OBJECTIVES: We analyzed the clinicopathological characteristics, clinical course, and treatment of congenital tufted angioma (cTA) and evaluated variables that were indicative of problematic lesions. METHODS: We performed an observational retrospective study of 30 patients with cTA in 9 Spanish hospitals over a 14-year period. Histopathology and immunohistochemistry studies were performed. RESULTS: Congenital tufted angioma mainly affected the limbs (56.67%), followed by the face and/or neck (23.33%). Almost three-quarters of facial cTA were located over the mandibular area. Immunohistochemically, proliferating cells expressed markers of endothelial cells, with some clusters of cells, especially at the periphery of the aggregates, showing positivity for podoplanin. As no associated complications were observed in 66.67% of cases, no treatment was started. LIMITATIONS: Data were collected retrospectively. CONCLUSIONS: Our findings emphasize the clinical features and course of cTA. The possibility of cTA should be considered when a poorly defined congenital infiltrative vascular tumor with(out) overlying hirsutism appears over the mandibular area. Location on the face and/or neck requires a more comprehensive workup, since potentially severe complications often appear early.
Asunto(s)
Hemangioma/diagnóstico , Neoplasias Cutáneas/diagnóstico , Diagnóstico Diferencial , Femenino , Hemangioma/terapia , Humanos , Lactante , Recién Nacido , Masculino , Estudios Retrospectivos , Piel/patología , Neoplasias Cutáneas/terapia , EspañaRESUMEN
No disponible
Asunto(s)
Humanos , Masculino , Persona de Mediana Edad , Adenocarcinoma/tratamiento farmacológico , Quimioradioterapia/efectos adversos , Herpes Zóster/inducido químicamente , Aspergilosis Pulmonar Invasiva/inducido químicamente , Aspergilosis Pulmonar Invasiva/complicaciones , Herpes Zóster/complicaciones , Herpes Zóster/tratamiento farmacológico , Aspergilosis Pulmonar Invasiva/mortalidad , Pancitopenia/complicaciones , Antifúngicos/uso terapéuticoRESUMEN
The term Mycoplasma pneumoniae-induced rash and mucositis (MIRM) was recently proposed to identify the mucocutaneous condition secondary to M. pneumoniae infection that had historically been regarded among the more confusing pathologies of erythema multiforme and Stevens-Johnson syndrome. Based on a number of previous reports, these syndromes require differentiation since they have different prognoses and specific treatment requirements. We report a case of oral and genital erosions that strongly resembled MIRM without rash but were found to be secondary to a Chlamydia pneumoniae infection. After a thorough review of the literature on this subject, we propose that C. pneumoniae should also be considered a potential causative agent of MIRM and that this term should be amended to include C. pneumoniae infection.
