Cutis verticis gyrata with Metabolic Abnormalities

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Abstract
An adult Black South African man with forme fruste pachydermoperiostosis is described. The patient had cutis verticis gyrata, hyperhidrosis, sebaceous plugging and an acneform rash. Basal and dynamic endocrine studies revealed that the hypothalamic, pituitary, thyroid, adrenal, gonadal axes and growth hormone secretion were all normal, but urinary excretion of 17-hydroxy- and corticosteroids, and the prolactin response to thyrotropin-releasing hormone were depressed. Urinary levels of asparagine were markedly elevated and serum levels were subnormal indicating a possible renal leak of this amino acid; glutamic acid and ornithine were present in smaller quantities in the urine. All other tests of proximal and distal renal tubular function were normal. There is no evidence from our studies to suggest a hormonal basis for pachydermoperiostosis. The amino aciduria may be a chance association of, or an (additional) occasional manifestation of the syndrome.

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