Pachydermoperiostosis: Cosmetic implications in a multi-system genetic condition.

Abstract

We present the case of a 17-year-old gentleman, initially referred to rheumatology with painful enlargement of his joints, along with prominence of facial features consistent with cutis verticis gyrata. Genetic testing confirmed a diagnosis of pachydermoperiostosis, a rare genetic condition characterised by digital clubbing, long bone periostosis and pachydermia. Our patient exhibited heterozygosity for the SLCO2A1 variant, which is known to confer more prominent skin and bone features than other known underlying mutations. His arthralgia caused significant functional impairment, but moreover there were concerns regarding the psychosocial impact of his cosmetic features, for which there appear to be few available medical therapies. As a multi-system genetic condition, pachydermoperiostosis is also known to be associated with other significant sequelae such as myelofibrosis and gastric ulceration, highlighting the importance of its early detection, which may be aided by the recognition of dermatological signs. In our patient's case, the concurrence of orthostatic hypotension and iron deficiency anaemia were concluded to be a function of restricted dietary intake due to his change in appearance, once again highlighting the cosmetic implications of this condition, and importance of further research into its medical management.