ABSTRACT
De Barsy et al first reported a rare cutaneo-oculo-cerebral malformation syndrome, now commonly referred as 'progerioid syndrome of de Barsy'. It is the constellation of progeria-like appearance, cutis laxa, intrauterine growth retardation, cornea clouding and hypotonia. We report a case of Debarsy syndrome in a neonate presented at birth with typical clinical features with hypocalcemic seizures. There are no previous reports among those of Afghani origin and this also is the first case reported from United Arab Emirates. There have been no reported cases of hypocalcemic seizures
Subject(s)
Humans , Male , Cutis Laxa/diagnosis , Intellectual Disability/diagnosis , Seizures , Hypocalcemia , Review Literature as TopicABSTRACT
A Cútis laxa é uma doença rara, hereditária ou adquirida. Resulta da alteração do tecido elástico, tornando a pele frouxa e inelástica. A forma congênita tem geralmente acometimento sistêmico, com pior prognóstico. Os autores relatam o caso de uma paciente, com quadro clínico sugestivo da forma hereditária da doença, com pais consangüíneos (primos de 2º grau) e irmão falecido com clínica semelhante. O estudo genético do gene FBLN5 teve importância na confirmação diagnóstica, na definição do prognóstico e no aconselhamento genético familiar.
Cutis laxa is a rare inherited or acquired disorder of elastic tissue characterized by inelastic and loose skin. Congenital cutis laxa may present with internal organ involvement, determining a worse prognosis. The authors present the case of a female patient with clinical manifestations suggestive of the hereditary form of the disease, with consanguineous parents (second-degree cousins) and a brother who died with a similar clinical presentation. The genetic study of the FBLN5 gene was important to confirm the diagnosis, define the prognosis, and provide genetic counseling to the family.
Subject(s)
Child, Preschool , Female , Humans , Cutis Laxa/congenital , Consanguinity , Cutis Laxa/diagnosis , Extracellular Matrix Proteins/genetics , FaciesABSTRACT
Congenital cutis laxa is a rare hereditary heterogeneous group of disorder of elastic tissue. It is characterized by abnormally loose skin with a reduction in elastic tissue throughout the dermis. Depending on the mode of transmission and phenotypic expression, congenital cutis laxa has been classified in four types: autosomal dominant; autosomal recessive: types I and II and X-linked recessive. We report a new born girl with the autosomal recessive form of congenital cutis laxa associated with visceral abnormalities. The out come for this form was fatal. The most molecular basis for CCL were known but the therapeutic options are still limited
Subject(s)
Humans , Female , Cutis Laxa/diagnosis , Elastic Tissue/pathology , Viscera/abnormalitiesABSTRACT
Congenital cutis laxa is a rare, clinically and genetically heterogeneous group of inherited disorders. It is characterized by degenerative changes in elastic fibres and manifests with skin laxity. Here we presented a six-month old boy with congenital cutis laxa associated with growth retardation. We reveal ultrastructural findings and discussed the differential diagnosis.
El laxa del cutis es un grupo raro, clínica y genéticamente heterogéneo de desórdenes heredados. Esta afección se caracteriza por cambios degenerativos en las fibras elásticas y se manifiesta en la hiperlaxitud de la piel. Aquí presentamos el caso de un niño de seis meses con cutis laxa congénita asociada con retardo del crecimiento. Se revelan los hallazgos ultra-estructurales y se discute el diagnóstico diferencial.
Subject(s)
Humans , Infant , Male , Connective Tissue Diseases , Cutis Laxa , Growth Disorders , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple , Connective Tissue Diseases/diagnosis , Cutis Laxa/diagnosis , Diagnosis, Differential , Growth Disorders/diagnosisABSTRACT
Gerodermia Osteodysplastica is a rare autosomal recessive connective tissue disorder included in the cutis laxa syndromes. Twenty five cases have been reported in the world literature to date. The authors report the first case from our country, a 13 year old female having phenotypic and radiological features suggestive of this genetic disorder.
Subject(s)
Adolescent , Aging, Premature/diagnosis , Cutis Laxa/diagnosis , Female , Humans , Joint Diseases/diagnosis , Osteoporosis/diagnosis , Phenotype , SyndromeABSTRACT
Se presenta el caso de una paciente de 49 años con cutis verticis gyrata, enfermedad de muy baja incidencia a la cual Unna, en 1907, le asignó su nombre. El termino describe la hipertrofia y plegamiento de la piel del cuero cabelludo que adopta un aspecto cerebriforme, de fácil distinción clínica pero de dificil diagnóstico etiopatogénico por la multiplicidad de causas que lo pueden ocasionar. Nuestro caso propósito fue clasificado como cutis verticis gyrata, (CVG) primario-esencial y esporádico al no presentar asociaciones
Subject(s)
Humans , Female , Middle Aged , Scalp Dermatoses/complications , Acromegaly/diagnosis , Cutis Laxa/diagnosis , Diagnosis, Differential , Scalp Dermatoses/diagnosis , Scalp/pathology , Ehlers-Danlos Syndrome/diagnosisABSTRACT
Objetivo: Chamar a atençäo para uma doença rara da infância que se apresenta como envelhecimento precoce e pode ser letal. Métodos: Os autores relatam um caso de cutis laxa, uma síndrome de envelhecimento precoce, em uma criança de oito anos de idade e discutem sobre a classificaçäo da doença, diagnóstico e prognóstico. Evoluçäo do caso: A criança apresentou sinais de envelhecimento aos quatro anos. O diagnóstico de cutis laxa foi confirmado pela biópsia de pele. Apresentou insuficiência cardíaca congestiva, uma complicaçäo sistêmica diferente das descritas em trabalhos anteriores, evoluindo para o óbito aos oito anos. Conclusöes: A importância do diagnóstico de cutis laxa reside no fato de que, além do quatro dermatológico característico, há freqüentes complicaçöes sistêmicas que podem ser alvo de uma atuaçäo preventiva, uma vez que näo existe tratamento específico para a doença. O aconselhamento genético é também importante nesta condiçäo