Epidermal nevus syndrome with hypophosphatemic rickets

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: ...

Epidermal nevus syndrome: Report of a giant linear epidermal nevus

Linear epidermal nevi frequently follow the lines of Blaschko and may be confused with the verrucous stage of incontinentia pigmenti. Inflammatory epidermal nevus appears as a line array of pink to red papules usually on the lower limb (Buttock and hip) clinically resembling psoriasis or eczematous dermatitis. But inflammatory epidermal nevus has distinct histopathologic features. We report a c...

Hypophosphatemic rickets with hypercalciuria.

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 ...