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Maffucci syndrome is a really rare disorder.

 Maffucci syndrome is a disorder which affects the skin and skeleton, causing benign cartilage tumors, bone deformities, and dark hemangiomas to grow. Maffucci syndrome is characterized by benign overgrowths of cartilage skeletal deformities, and dark red, irregular shaped patches of skin, resulting from benign growths on the skin consisting of a accumulation of blood vessels (hemangiomas). Maffucci syndrome affects both males and females. Patients are normal at birth and the syndrome manifests during childhood and puberty.

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Dent’s disease may also be associated with kaliuresis, phosphaturia, uricosuria.

Dent disease is a genetic kind of liberal renal bankruptcy. It is one reason of Fanconi syndrome, and is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic renal bankruptcy. Because of its rather rare occurrence, Dent’s disease is often diagnosed as idiopathic hypercalciuria, i.e. excess calcium in urine with undetermined causes. It is due to mutations that inactivate a voltage-gated chloride channel, named CLC-5, which is expressed in the kidney and is encoded by a gene at Xp11.22. The condition is familial, affecting both males and females in equal numbers, but males are more severely affected than females. In males, it tends to present in childhood or early adult life with symptoms of renal calculi, rickets or even with renal failure.

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 Androgenetic alopecia is postulated to be a dominantly inherited disorder with variable penetrance and expression. Additionally, prostate cancer, disorders of insulin resistance, and high blood pressure have been related to androgenetic alopecia.

Androgenetic alopecia is an extremely common disorder affecting both men and women. This is essentially a cosmetic disorder. A variety of genetic and environmental factors likely play a role in causing androgenetic alopecia. Other than affecting the patient psychologically, the disorder is significant only in that it allows ultraviolet light to reach the scalp and, thus, increases the amount of actinic damage. Androgenetic alopecia is a genetically determined condition. Androgen is necessary for progression of the disorder, as it is not found in males castrated prior to puberty. The progression of the disorder is stopped if postpubertal males are castrated.

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