Hypophosphatemic rickets associated with giant hairy nevus

Hypophosphatemic rickets with epidermal nevus syndrome.

9.6 mg/dL, serum phosphate: 1.8mg/dL; alkaline phosphatase: 982 U/L. Acid load test was negative. TMP/GFR: 0.5, Magnetic resonance imaging of the brain showed interdigitation of gyri in the right frontal lobe. X-ray showed changes of rickets. Biopsy of the skin lesion was suggestive of epidermal nevus. He was started on phosphate mixture Sanklecha M, Singhal S, et al. Hereditory spherocytosis: ...

Hypophosphatemic rickets with hypercalciuria.

Giant hairy nevus. A case report.

Introduction: Newborns can present with a host of varying birth marks. Nevi can represent a benign condition or be a harbinger of a more concerning underlying condition or genetic syndrome. Hyperpigmentation in the newborn is very common and has a wide spectrum of presentation from large areas of dark discoloration to spotty segmental patches to solitary light brown macules. Some nevi may have ...

Hereditary hypophosphatemic rickets

Hereditary hypophosphatemic rickets (HHR) are a group of diseases characterized by renal phosphate wasting causing growth retardation, rickets and osteomalacia. The most common form is the X-linked dominant hypophosphatemic rickets caused by inactivating mutations in the PHEX gene. The other hereditary hypophosphatemic syndromes present a lower prevalence. These include autosomal dominant hypop...

Hypophosphatemic rickets and osteomalacia.

The hypophosphatemic conditions that interfere in bone mineralization comprise many hereditary or acquired diseases, all of them sharing the same pathophysiologic mechanism: reduction in the phosphate reabsorption by the renal tubuli. This process leads to chronic hyperphosphaturia and hypophosphatemia, associated with inappropriately normal or low levels of calcitriol, causing osteomalacia or ...