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Cutis verticis gyrata with metabolic abnormalities
Dermatologica
|January 1, 1983
Summary
This study describes a Black South African man with a mild form of pachydermoperiostosis. Endocrine and renal studies revealed no hormonal basis, but did show amino aciduria, possibly linked to the syndrome.
Area of Science:
- Endocrinology
- Genetics
- Dermatology
Background:
- Pachydermoperiostosis is a rare genetic disorder characterized by skin thickening and bone changes.
- Its etiology and associated manifestations are not fully understood.
Observation:
- A case of forme fruste pachydermoperiostosis in an adult Black South African male is presented.
- The patient exhibited cutis verticis gyrata, hyperhidrosis, sebaceous plugging, and an acneform rash.
Findings:
- Endocrine studies (hypothalamic, pituitary, thyroid, adrenal, gonadal axes, growth hormone) were normal.
- Depressed urinary 17-hydroxycorticosteroids and blunted prolactin response to thyrotropin-releasing hormone were noted.
- Markedly elevated urinary asparagine with subnormal serum levels suggested a possible renal amino acid leak; other amino acids (glutamic acid, ornithine) were also present in urine.
Implications:
- The findings do not support a hormonal basis for pachydermoperiostosis.
- The observed amino aciduria may be an incidental finding or an additional manifestation of the syndrome.