INTRODUCTION Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive trait; it often requires some interventions with general anesthesia because of the accompanied complications. CASE PRESENTATION We report a 19-year-old girl with palmoplantar hyperkeratosis who presented total loss of her teeth. She was candidate to mandibular bone graft and lower jaw dental implants under general anes...

Congenital afibrinogenaemia is a rare genetic disorder transmitted as an autosomal recessive trait and characterized by the complete absence of fibrinogen in the plasma. We report a 41-year-old woman who suffered from congenital afibrinogenaemia and hepatitis C viral infection and presented with ischaemic necrosis and livedo of the toes. Laboratory investigations showed the presence of mixed cr...

Papillon-Lefevre syndrome (PLS) is a rare autosomal recessive heterogeneous trait which is characterized by erythematous palmoplantar hyperkeratosis, early-onset periodontitis, and associated calcification of dura mater. The etiology of PLS is multifactorial with genetic, immunological, and microbial factors playing a role in etiopathogenesis. Recently identified genetic defect in PLS has been ...

Arthrogryposis or arthrogryposis multiplex congenital (AMC) comprises non-progressive conditions characterized by multiple joint contractures found throughout the body at birth. During this case study the calf borne with arthrogryposis was dead during distocic delivery. The arthrogrypotic calf had varying expressions of the defect with all 4 limbs (tetramelic) affected and curvature and multipl...

Two female sibs of first cousin Iranian parents were found to have the syndrome of spastic paraplegia, optic atrophy with poor vision, microcephaly, and normal cognitive development. Karyotype analysis showed a normal female constitution in one and a male constitution (46,XY) in the other. The XY female showed normal female external genitalia, normal uterus and tubes, and streak gonads. SRY gen...

A 58 year old patient with dementia, oral dyskinesia, and diabetes mellitus is described. He had an undetectable concentration of serum caeruloplasmin, as an autosomal recessive trait. Brain MRI disclosed a pronounced hypointensity in the bilateral putamina, caudate, and dentate nuclei on both Ti and T2 weighted images. Pathological findings were mainly in those regions of the brain and consist...

Two sisters with Ehlers-Danlos syndrome, inherited as an autosomal recessive trait, and congenital heart disease are herein reported. One was a 20-year-old woman with Ehlers-Danlos syndrome and multiple aphthous stomatitis, bronchial asthma, an emphysematous lung, a ventricular septal defect and a bilateral inguinal hernia due to hyperextensibility and joint hypermobility. The other was a 17-ye...

The mutation responsible for Junctional Epidermolysis Bullosa (JEB) in Belgian draft horses in North America and other draft breeds in Europe has been identified. The mutation, a cytosine insertion (1368 insC) in the LAMC2 gene, results in absent expression of the laminin γ2 polypeptide chain of laminin 5. JEB is inherited as an autosomal recessive trait. A polymerase chain reaction (PCR) test ...