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Pachydermoperiostosis

Overview

A rare genetic ectodermal disorder characterized by thick coarse skin and limb clubbing.

Symptoms - Pachydermoperiostosis

* Coarse skin * Thick skin * Oily skin * Drooping eyelids * Excessive sweating of the hands * Excessive sweating of the feet * Peripheral vascular stasis * Seborrheic hyperplasia * Thick stratum corneum * Limb clubbing * Periostosis * Joint discomfort * Muscle discomfort * Thickening of face skin * Thickening of scalp skin * Increased sebaceous secretion * Thick hand skin * Thick foot skin * Thick limb bones * Thick finger bones * Thick toe bones * Small hands * Small feet * Joint effusion * Decreased facial hair * Decreased pubic hair * Male breast enlargement

Causes - Pachydermoperiostosis

Pachydermoperiostosis or primary hypertropic osteoarthropathy is often familial. The condition is believed to be inherited in an autosomal dominant pattern with variable penetrance; however, autosomal recessive forms have been reported. Pachydermoperiostosis or primary hypertropic osteoarthropathy has been mapped to band 4q33-q34, and mutations in HPGD, encoding 15-hydroxyprostaglandin dehydrogenase, the key enzyme of prostaglandin degradation, have been identified. Individuals with homozygous mutations have chronically elevated prostaglandin E2 levels. Milder biochemical and clinical manifestations are found in heterozygous individuals. Vascular endothelial growth factor is abnormally expressed in some patients with pachydermoperiostosis or primary hypertropic osteoarthropathy. Increased levels of interleukin 6 and receptor activator of nuclear factor–kappaB ligand (RANKL) have been reported in the serum of a patient with pachydermoperiostosis or primary hypertropic osteoarthropathy during the acute phase of the disease

Prevention - Pachydermoperiostosis

Not supplied.

Diagnosis - Pachydermoperiostosis

signs and symptoms of Pachydermoperiostosis may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Pachydermoperiostosis symptoms.

Prognosis - Pachydermoperiostosis

Not supplied.

Treatment - Pachydermoperiostosis

Not supplied.

Resources - Pachydermoperiostosis

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