RESUMO
Primary erythromelalgia is a rare autosomal-dominant condition due to pathogenic variant in the SCN9A gene, characterized by childhood onset of excruciating pain, redness, and warmth of acral sites. Patients often resort to ice water baths and other cooling measures to manage the discomfort. Hypothermia is a rare complication, reported only twice previously. We report a child with primary erythromelalgia due to a confirmed pathogenic variant admitted with life-threatening hypothermia. Although the overuse of cooling mechanisms may have contributed, we postulate that the SCN9A mutation may lead to thermodysregulation and make patients with primary erythromelalgia particularly susceptible to this complication.
Assuntos
Eritromelalgia , Hipotermia , Criança , Eritromelalgia/diagnóstico , Eritromelalgia/genética , Eritromelalgia/terapia , Humanos , Mutação , Canal de Sódio Disparado por Voltagem NAV1.7/genética , DorRESUMO
Congenital hemangiomas (CH) are benign vascular tumors characterized by being fully developed at birth and following a variable postnatal course. We present the case of a newborn with a CH who experienced proliferation before developing an ulceration followed by rapid involution. This case expands the clinical spectrum of CH, highlighting the variable course of this vascular tumor.
Assuntos
Hemangioma , Neoplasias Vasculares , Proliferação de Células , Hemangioma/diagnóstico , Humanos , Lactente , Recém-Nascido , ÚlceraRESUMO
Cerebral cavernous malformations (CCM) may present in sporadic or familial forms, with different cutaneous manifestations including deep blue nodules, capillary malformations, and hyperkeratotic cutaneous capillary venous malformations (HCCVM). We report the case of an infant with a KRIT1-positive HCCVM associated with familial CCM. Moreover, histopathology showed positive immunohistochemical stain with GLUT1, further expanding the differential diagnosis of GLUT1-positive vascular anomalies.
