Neonatal lupus is a rare disease caused by the transplacental transfer of maternal autoantibodies to the foetus, characterized by transient clinical manifestations such as cutaneous, haematological, and hepatobiliary events or permanent such as congenital heart block. The typical cutaneous manifestations include erythematous, scaly, annular or arched lesions on the face, with slight central atr...

Cutis laxa is a heterogeneous condition characterized by redundant, sagging, inelastic, and wrinkled skin. The inherited forms of this disease are rare and can have autosomal dominant, autosomal recessive, or X-linked inheritance. Three of the autosomal recessive cutis laxa syndromes, namely cutis laxa IIA (ARCL2A), cutis laxa IIB (ARCL2B), and geroderma osteodysplastica (GO), have very similar...

We report two infants presenting with unilateral congenital facial palsy since birth. Magnetic resonance imaging (MRI) in both the cases revealed complete unilateral aplasia of facial nerve. To our knowledge, this is the first reported MR depiction of nonsyndromic isolated facial nerve aplasia. Imaging features and the pertinent anatomy is discussed along with a brief review of literature.

Epidermolysis bullosa (EB) is a rare and genetically inherited skin fragility disorder causing mucocutaneous blistering, erosion, ulceration as result of even minor trauma. Junctional EB (JEB), which type EB, via an autosomal recessive pattern characterized by blisters that appear in the lamina lucida basement membrane zone, junction between epidermis dermis. The integrin genes (ITGA6, ITGB4) a...

We report on a case of aplasia or unilateral congenital absence of the carpal scaphoid associated with dysplasia of the capitate. Congenital absence of the carpal scaphoid is a rare but well-documented condition. As far as we know, the present case is the seventh one reported in the medical literature. Imaging studies (X-ray and MRI) confirmed the absence of the carpal scaphoid associated with ...

PURPOSE To introduce aplasia or hypoplasia of the vestibulocochlear nerve (VCN) as a possible cause of hearing loss and to identify the magnetic resonance (MR) imaging characteristics of this entity. MATERIALS AND METHODS In seven patients with congenital deafness or unexplained sensorineural hearing loss, MR imaging enabled diagnosis of aplasia or hypoplasia of the VCN. Axial (0.7-mm) three-...

BACKGROUND Cutis marmorata telangiectatic congenital or Van Lohuizen syndrome is a rare vascular disorder that may be associated with other congenital malformations. Around 300 cases have been reported so far. CASE REPORT We present a 4-year-old girl with Van Lohuizen syndrome of the leg, but without any other malformations. CONCLUSION Neonatal lupus erythematosus may resemble congenital va...

Objective: Agenesis of the diaphragm (AD) in adults is an extremely rare congenital malformation. To date, only a few descriptions this pathology have been published scientific literature. The article presents case detection left-sided AD 25-year-old patient operated on for diaphragmatic relaxation. Additional examination methods, including echocardiography and ultrasonography abdominal organs ...

Cutis laxa (CL) is a heterogeneous group of disorders characterized by loose, redundant, inelastic or prematurely wrinkled skin (Berk et al., 2012; Uitto et al., 2013). Several inherited forms of CL have been identified (Urban and Davis, 2013), with 9 causative genes known to date (ALDH18A1, ATP6V0A2, ATP7A, EFEMP2/FBLN4, ELN, FBLN5, LTBP4, PYCR1, RIN2). A shared feature of all types of inherit...