RESUMEN
RASopathies encompass a diverse set of disorders affecting genes that encode proteins within the RAS-MAPK pathway. RASA1 mutations are the cause of an autosomal dominant disorder called capillary malformation-arteriovenous malformation type 1 (CM-AVM1). Unlike other RASopathies, facial dysmorphism has not been described in these patients. We phenotypically delineated a large family of individuals with multifocal fast-flow capillary malformations, severe lymphatic anomalies of perinatal onset, and dysmorphic features not previously described. Sequencing studies were performed on probands and related family members, confirming the segregation of dysmorphic features in affected members of a novel heterozygous variant in RASA1 (NM_002890.3:c.2366G>A, p.(Arg789Gln)). In this work, we broaden the phenotypic spectrum of CM-AVM type 1 and propose a new RASA1 variant as likely pathogenic.
Asunto(s)
Malformaciones Arteriovenosas , Mutación de Línea Germinal , Linaje , Mancha Vino de Oporto , Proteína Activadora de GTPasa p120 , Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , Lactante , Masculino , Capilares/anomalías , Capilares/patología , Facies , Predisposición Genética a la Enfermedad , Mutación de Línea Germinal/genética , Proteína Activadora de GTPasa p120/genética , Fenotipo , Mancha Vino de Oporto/genética , Mancha Vino de Oporto/patología , Malformaciones Arteriovenosas/genéticaRESUMEN
Morphea and facial capillary malformations (port-wine stains) are distinct conditions that can affect the pediatric population. Early localized morphea mimicking a capillary malformation is an uncommon clinical presentation. We present two new cases of girls, aged 2 and 3 years, who presented with erythematous patches, initially diagnosed as capillary malformations, which were later diagnosed as morphea. We also performed a literature review, yielding 12 additional cases that underscore that the unusual presentation of morphea may delay correct diagnosis. Although early management of morphea reduces long-term sequelae, it is important to delay laser treatment for selected acquired vascular malformations, until the diagnosis of morphea is excluded.
Asunto(s)
Anomalías Musculoesqueléticas , Mancha Vino de Oporto , Esclerodermia Localizada , Malformaciones Vasculares , Capilares/anomalías , Niño , Femenino , Humanos , Mancha Vino de Oporto/diagnóstico , Esclerodermia Localizada/diagnóstico , Esclerodermia Localizada/epidemiología , Malformaciones Vasculares/diagnósticoAsunto(s)
Síndrome de Klippel-Trenaunay-Weber/diagnóstico , Pared Abdominal , Preescolar , Humanos , VenasRESUMEN
OBJECTIVE: To determine whether the size of the birthmark in patients with Sturge-Weber syndrome (SWS) who have brain involvement can help predict neurologic disability. STUDY DESIGN: Fifty-one patients with SWS with facial birthmarks and brain involvement documented on magnetic resonance imaging were included in this retrospective chart review. A neuroradiologist, blinded to all clinical information, assigned a previously validated SWS neuroimaging score. A pediatric neurologist prospectively assigned previously validated neurologic severity scores, based on seizures, hemiparesis, visual field cut, and cognitive impairments. Three raters, blinded to clinical scores, independently graded the size of facial birthmark in each patient based on photographs. Their scores were averaged. Birthmark scores were compared with the imaging and neurologic severity results using nonparametric correlation analysis. RESULTS: Size of facial port-wine birthmark correlates with magnetic resonance imaging scores on the left and right sides (ρ = 0.57 and 0.66 [P < .001], respectively). Size is also positively associated with the neurologic severity rating for patients age 6 years and above (1-sided Fisher exact, P = .032). CONCLUSIONS: The size of facial port-wine birthmark in SWS brain involvement can be developed as a tool to predict neurologic severity of the disease.