Vitamin D dependent rickets (VDDR) type 2 is a very rare hereditary disease which has an autosomal recessive mode of inheritance. Patients with VDDR have mutation in the gene encoding for vitamin receptor on chromosome 12q12-q14, thus averting normal physiological action 1,25 D. It's presents developmental delay motor domain features usually first year life. Alopecia totalis frequent associatio...

Background: Cutaneous findings in the setting of HIV infection encompass a broad spectrum of diseases. Only few cases of vitiligo or alopecia areata have been described in HIV/AIDS patients and it remains unclear whether there is a causal relationship between HIV/AIDS and these two conditions. Observations: Our patient initially presented with diffuse generalized pruritic hypoand depigmented ma...

Abstract Background Dextrocardia is a rare congenital condition with prevalence of 0.83 per 10000 pregnancies. Its most common configuration situs inversus totalis, also known as “mirror-image dextrocardia”. This case report presents clinical symptomatic sinus node dysfunction requiring permanent pacemaker implantation (PPI) in patient mirror-image dextrocardia. Case summary A 81-year-old femal...

Pitch perception is an important component of hearing, allowing us to appreciate melodies and harmonies as well as recognize prosodic cues in speech. Multiple studies over the last decade have suggested that pitch is represented by a pitch-processing center in auditory cortex. However, recent data (Barker D, Plack CJ, Hall DA. Cereb Cortex. In press; Hall DA, Plack CJ. Cereb Cortex 19: 576-585,...

The authors report a case of sensorimotor polyneuropathy, diffuse cutaneous hyperpigmentation, skin sclerodermiform thickening and papular lesions in the infraclavicular and abdominal region. Besides weight loss, there were diabetes mellitus and hypothyroidism. The alterations were consistent with POEMS (Polyneuropathy, Organomegaly, Endocrinopathy, Monoclonal gammopathy and Skin changes) syndr...