Touraine Solente Gole syndrome: The elephant skin disease

Abstract

Touraine Solente Gole syndrome is a rare hereditary syndrome of primary pachydermoperiostosis, with the characteristic triad of pachydermia (or elephant like skin), periostosis and acropachia. A 27-year-old patient presented with aesthetic deformity of forehead due to deep skin folds and coarsening of facial features due to progressive thickening of skin. Associated palmoplantar hyperkeratosis with broadened of finger and toe tips and digital clubbing were noticed. Dermatologic evaluation revealed cutis verticis gyrata of scalp, seborrhoeic hyperplasia of face and hyperhidrosis. Natural history of the disease and aetiopathogenesis were reviewed. Aesthetic correction of forehead through frontal rhytidectomy was attempted.

Complete primary pachydermoperiostosis: A case report from Jordan and review of literature

“…Other differential diagnoses include acromegaly, thyroid acropachy, van Buchem's disease (in which there is absence of clubbing and skin changes), psoriasis, and rheumatoid arthritis. Patients with forme fruste have to be differentiated from the rare hyperelasticity disorders such as Ehler‐Danlos syndrome, cutis laxa, Meretoga's syndrome, Marfan's syndrome, and pseudoxanthoma elasticum, which may cause forehead furrows …”

“…Patients with forme fruste have to be differentiated from the rare hyperelasticity disorders such as Ehler-Danlos syndrome, cutis laxa, Meretoga's syndrome, Marfan's syndrome, and pseudoxanthoma elasticum, which may cause forehead furrows. 14 In up to 30% of the patients, PDP presents as a hereditary disease with autosomal dominance of variable penetrance.Although pathogenesis is currently unknown, an increased level of prostaglandin E2 which motivates the overexpression of the vascular endothelial growth factor has been proposed as a main factor. Due to high M:F ratio, Xlinked transmission and role of testosterone hormone have been suggested as other factors.…”

Comprehensive Surgical Strategies for the Management of Pachydermoperiostosis

“…In PDP patients, cutaneous and bone changes become progressively severe for 5 to 20 years and cease to advance right before the middle age; however, the abnormal appearance is permanent and remains for a lifetime. [7][8][9] Treatment modalities that have been tried in PDP for cutaneous manifestations include steroids, 10 isotretinoin, 11 colchicine, 12 and botulinum toxin. 13 Meanwhile, as the typical course of PDP is self-limited, plastic surgery mainly focuses on cosmetic improvements through procedures like bilateral blepharoplasties, 14 tarsal wedge resections, 15 frontal rhytidectomy, 16,17 along with facelifts 18 as highlighted by many physicians mainly to meet the aesthetic goals of the patients.…”

A rare case of pachydermoperiostosis associated with blepharoptosis and floppy eyelids

“…The changes in PDP progress over the next 5–20 years and then stabilize to remain unchanged throughout life. [ 6 ]…”

“…[ 7 ] Surgical management of PDP is challenging and mostly combines horizontal lid shortening with ptosis correction, frontal rhytidectomy, and brow lift. [ 6 ] These can be done either in a staged fashion or in a single sitting. [ 4 ] Berdia et al .…”