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Porphyria cutanea tarda is a rare disease, resulting from low activity of the enzyme uroporphyrinogen decarboxylase. It takes part in the stepwise process of haem of hemoglobin synthesis. The result is overproduction of porphyrins and their precursors that accumulate in the blood, skin and the liver. Potential trigger factors are chronic hepatitis C, HIV infection, alcohol, estrogen-containing drugs and smoking.

We present a clinical case of a 63-year-old male with chronic viral C hepatitis, liver cirrhosis and porphyria cutanea tarda. The clinical presentation included painful, blistering lesions on the sun exposed skin areas. A three-month course with direct acting antivirals was performed which sustained virological response, negative HCV RNA, full remission of the skin disease with no side effects.

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Juvenile Paget disease (JPD) is an ultra-rare disease, characterized by loss of function of osteoprotegerin. Osteoprotegerin inhibits osteoclast activation via the receptor activator of nuclear factor κB (RANK) pathway. Severely affected children suffer from bone deformities and pain and require long term anti-resorptive treatment. Due to the rarity of the disease, few long-term follow-up data on the clinical course in children are available. In this report, motor development during infancy and early childhood and the activity of the bone disease based on clinical, radiographic and biochemical parameters are reported in 2 children with severe forms of JPD during long term treatment (4 and 14 years) with bisphosphonates. Results of a bone biopsy in patient 1 after 10 years of treatment and video material of the motor development of patient 2 are provided. Doses per year of pamidronate ranged from 4 to 9 mg/kg bodyweight and were administered in 4-10 courses, yearly. Treatment was adjusted individually according to the presence of bone pain. Motor development was delayed in both children before treatment with bisphosphonates was commenced and improved thereafter. Bone histology revealed a significantly higher heterogeneity of mineralization which was mainly attributed to the increased percentage of low mineralized bone areas. Individualized intravenous treatment with pamidronate resulted in sufficient control of bone pain and suppression of bone turnover with few side effects over the observation period.

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Objective: To present an algorithm, including in-depth clinical, electrophysiological and genetic studies, thanks to which a correct diagnosis of patients with Stargardt disease and cone-rod dystrophy was established.Material and methods: We present two patients who underwent a full ophthalmological examination, optical coherence tomography, fundus autofluorescence and/or fluorescein angiography, visual field testing and fullfield and multifocal electroretinography and the clinical diagnosis was established, confirmed and genetically.Results: Some of the symptoms of the patient with cone-rod dystrophy, as well as some of the clinical studies could be misinterpreted as Stargardt disease, but after in-depth electrophysiological studies demonstrated reduced diffuse electrophysiological activity of cones and to a lesser extent of rods, a revision of the initial clinical diagnosis was required, confirmed later genetically.Conclusion: In-depth clinical, electrophysiological and genetic testing of patients with hereditary retinal dystrophies is essential for the correct diagnosis and choice of therapeutic approach. The presented algorithm is useful for differential diagnosis between the different types of hereditary retinal dystrophies, which is very difficult in some cases and requires a differentiated approach. Read the full article here.

Duchenne muscular dystrophy (DMD) is a genetic, progressive neuromuscular condition that is marked by long-term muscle deterioration with significant implications of pulmonary and cardiac dysfunction. As such, end-stage heart failure (HF) in DMD is increasingly becoming the main cause of death in this population. The early detection of cardiomyopathy is often challenging, due to a long subclinical phase of ventricular dysfunction and difficulties in assessment of cardiovascular symptomatology in these patients who usually lose ambulation during the early adolescence. However, an early diagnosis of cardiovascular disease in patients with DMD is decisive since it allows a timely initiation of cardioprotective therapies that can mitigate HF symptoms and delay detrimental heart muscle remodelling. Regular cardiac care is crucial in DMD care. Early recognition and prophylactic use of angiotensin converting enzyme inhibitors (ACEi) are the main stay therapeutic strategy to delay incidence of DMD – dilatated cardiomyopathy (DCM). Because of lack of DMD specific drugs, actual indications for established DCM include current treatment for heart failure (HF).

We present this rare and interesting case to highlight the existence of this entity since it carries a poor prognosis and requires a timely cardioprotective therapy. Read the full article here.