[Primary hyperoxaluria: case report and therapeutic perspectives].

Primary hyperoxaluria (PH) is a rare genetic disorder with autosomal recessive transmission, characterized by high endogenous production and markedly excessive urinary excretion of oxalate (Ox). It causes the accumulation of calcium oxide crystals in organs and tissues including bones, heart, arteries, skin and kidneys, where it may cause oxalo-calcic nephrolithiasis, nephrocalcinosis and chronic renal failure. Some forms are secondary to enteric diseases, drugs or dietetic substances, while three primitive forms, caused by various enzymatic defects, are currently known: PH1, PH2 and PH3. An early diagnosis, with the aid of biochemical and genetic investigations, helps prevent complications and establish a therapeutic strategy that often includes liver and liver-kidney transplantation, improving the prognosis of these patients. In this work we describe the clinical case of a patient with PH1 undergoing extracorporeal hemodialysis treatment and we report the latest research results that could change the life of patients with PH.

Thermosensitive lichen amyloidosis.

BACKGROUND: A 26-year-old male presented with a 3-year history of lichen amyloidosis. On examination, there was a pigmented papular eruption with a ripple pattern affecting the limbs and trunk but sparing the axillae, antecubital and popliteal fossae, central chest, neck and face. There was also prominent sparing of the skin overlying the superficial veins of the limbs. The sparing of the superficial veins of the limbs by lichen amyloidosis raised the possible role of cutaneous temperature in governing the distribution of amyloid deposits in our patient. OBSERVATIONS: Total body infrared thermography demonstrated consistent sparing of the amyloid deposits in areas with higher cutaneous temperatures such as the neck and axillae as well as the course of the superficial veins. The cooler areas such as the extensor surfaces of the arms and legs corresponded to areas of amyloid deposition. Narrow band ultraviolet B (NBUVB) phototherapy over a 5-month period resulted in a marked improvement of pruritus and clearing of the amyloid deposits. CONCLUSIONS: Our patient clearly demonstrated lichen amyloidosis in a thermosensitive distribution. This may be a gross manifestation of previous reports of in vitro thermosensitivity of amyloid fibril formation and may have potential implications in treatment at least in a subset of patients demonstrating this clinical feature.