FLOTCH syndrome
Overview
FLOTCH syndrome: A very rare syndrome characterized mainly by kidney stones, completely white nails and cysts that form in oil producing areas of skin.
Symptoms
* Nail anomalies * Light sensitivity * Skin lumps * Sparse eyelashes * Kidney stones
Causes
Although the exact cause of renal calculi is unknown, predisposing factors include: ❑ Dehydration: Decreased urine production concentrates calculus-forming substances. ❑ Infection: Infected, damaged tissue serves as a site for calculus development; pH changes provide a favorable medium for calculus formation (especially for magnesium ammonium phosphate or calcium phosphate calculi); or infected calculi (usually magnesium ammonium phosphate or staghorn calculi) may develop if bacteria serve as the nucleus in calculus formation. Infections may promote destruction of renal parenchyma. ❑ Obstruction: Urinary stasis (as in immobility from spinal cord injury) allows calculus constituents to collect and adhere, forming calculi. Obstruction also promotes infection, which, in turn, compounds the obstruction. ❑ Metabolic factors: These factors may predispose to renal calculi: hyperparathyroidism, renal tubular acidosis, elevated uric acid (usually with gout), defective metabolism of oxalate, genetic defect in metabolism of cystine, and excessive intake of vitamin D or dietary calcium. Among Americans, renal calculi develop in 2% to 10% of the population, with people living in southeastern states having an increased risk. They’re more common in males (especially those ages 30 to 40) than in females by a 3:1 ratio. They’re rare in children. Some types of calculi tend to be familial; some are associated with other conditions, such as bowel disease, ileal bypass for obesity, or renal tubule defects. Calcium calculi are most common, accounting for over 75% of all calculi, and are two to three times more common in males, usually appearing between ages 20 and 30. The calcium may combine with other substances, such as oxalate (the most common substance), phosphate, or carbonate, to form the stone. Oxalate is present in certain foods. Diseases of the small intestine increase the tendency to form calcium oxalate calculi. Recurrence is likely. Uric acid calculi are also more common in males and make up about 6% of all calculi. These calculi are associated with gout and chemotherapy. Cystine calculi, which make up about 2% of all calculi, may form in people with cystinuria, a hereditary disorder affecting both males and females. Struvite calculi, accounting for about 15% of all calculi, are mainly found in females as a result of a urinary tract infection (UTI). They can grow very large and may obstruct the kidney, ureter, or bladder. Indavir stones appear in patients with human immunodeficiency virus who are treated with the protease inhibitor indinavir.