RESUMEN
BACKGROUND: The presence of a vascular, blue linear discoloration on the nasal root of infants and young children is a frequent incidental feature, rarely reported in the medical literature. It is related to the trajectory of the transverse nasal root vein (TNRV). OBJECTIVE: To study the frequency and clinical characteristics of the vascular discoloration of the nasal root in children. METHODS: A prospective study was performed to address the presence or absence of vascular discoloration of the nasal root in all children under 6 years of age attending a pediatric dermatology clinic from November 2022 to November 2023. Data on age and skin phototype (Fitzpatrick classification I-VI) were also collected. RESULTS: Of 701 patients examined, 345 (49.2%) presented with a vascular discoloration of the nasal root. This was present in 97 of 193 (50.3%), 127 of 261 (48.7%), and 121 of 247 (49.0%) patients for the age groups 0-1, 1-3, and 3-6 years, respectively. The presence of vascular discoloration of the nasal root was more frequent in patients with lighter Fitzpatrick skin phototypes: 49 of 69 (71.0%) phototype II, 157 of 290 (54.1%) phototype III, and 137 of 337 (40.7%) phototype IV. CONCLUSIONS: A vascular discoloration of the nasal root is a frequent skin feature in infants and children, persisting at least until the age of 6. It does not constitute any medical problem aside from cosmetic concern and parents can be reassured of its benign nature. We propose the medical term "prominent TNRV" to describe this condition.
Asunto(s)
Nariz , Humanos , Preescolar , Lactante , Estudios Prospectivos , Masculino , Femenino , Niño , Nariz/irrigación sanguínea , Venas/anomalías , Venas/anatomía & histología , Recién Nacido , Pigmentación de la PielRESUMEN
Several gain-of-function variants in NLRP1 cause a distinctive autoinflammatory disease reported under different names featuring mainly skin and mucosal involvement and variable systemic signs. Here, we report a new case of NLRP1-associated autoinflammatory disease in a 6-year-old Peruvian girl, who presented with confluent hyperkeratotic plaques that drained purulent material with subsequent scarring. A c.3641C > G (p. Pro1214Arg) variant that has been previously been reported was found in NLRP1 and was not present in either parent. The term NLRP1-associated autoinflammatory disease with epithelial dyskeratosis (NADED) is proposed to encompass all reported cases, which have received different nomenclature so far.
Asunto(s)
Proteínas Adaptadoras Transductoras de Señales , Enfermedades Autoinflamatorias Hereditarias , Femenino , Humanos , Niño , Proteínas Adaptadoras Transductoras de Señales/metabolismo , Proteínas Reguladoras de la Apoptosis/metabolismo , Enfermedades Autoinflamatorias Hereditarias/diagnóstico , Enfermedades Autoinflamatorias Hereditarias/genética , Enfermedades Autoinflamatorias Hereditarias/complicaciones , Proteínas NLRRESUMEN
Intrathoracic infantile hemangiomas (IHs) are extremely rare. They may be located in the pericardium, trachea, bronchia, diaphragm, mediastinum, or the lungs and may be associated with cutaneous IHs. We present a newborn with multiple pulmonary IHs in the absence of skin lesions that showed a dramatic response to oral propranolol.
Asunto(s)
Hemangioma Capilar , Hemangioma , Neoplasias Cutáneas , Administración Oral , Antagonistas Adrenérgicos beta/uso terapéutico , Hemangioma/tratamiento farmacológico , Hemangioma Capilar/diagnóstico , Hemangioma Capilar/tratamiento farmacológico , Humanos , Lactante , Recién Nacido , Pulmón , Propranolol/uso terapéutico , Neoplasias Cutáneas/tratamiento farmacológico , Resultado del TratamientoRESUMEN
Aplasia cutis congenita (ACC), or congenital absence of skin, is a heterogeneous condition that may be due to varied mechanisms. ACC has rarely been reported in association with fetus papyraceus, representing a peculiar phenotype of ACC. We present six new cases of neonates born with symmetric ACC associated with intrauterine fetal demise of co-twins during the late first or early second trimester.