Touraine–Solente–Gole syndrome

Abstract

Touraine-Solente-Gole syndrome, also known as Pachydermoperiostosis (PDP) or Primary Hypertrophic Osteoarthropathy, is a rare hereditary disorder, which affects both bones and skin. It is characterized by a combination of dermatologic changes (pachydermia or thickening of the skin) and rheumatologic manifestations (periostosis and finger clubbing). Eyelid ptosis which is caused by thickened eyelids (blepharoptosis) is a less common symptom. We report the case of a patient with a complete form of Touraine-Solente-Gole syndrome with bilateral blepharoptosis as presenting feature.

Pachydermoperiostosis: A clinicopathological description

“…The first case of PDP was reported in 1868 by Friedreisch 1 . Touraine, Solente, and Gole were the first who postulated that PDP was a distinct entity from acromegaly and hypertrophic osteoarthropathy secondary to thoracic abdominal neoplasia or chronic pulmonary disease 1, 2, 3. The facial skin becomes coarse with specific furrows.…”

“…The furrows may also involve the scalp, where it is known as cutis verticis gyrate. Most affected patients are male, with a male/female ratio of 9:1 1, 2. The disease has a clear genetic predisposition, and about one third of patients have a close relative with similar digital deformity.…”

“…The disease has a clear genetic predisposition, and about one third of patients have a close relative with similar digital deformity. However, the pattern of inheritance has not yet been fully recognized, and both autosomal recessive and autosomal dominant inheritance forms have been proposed 2, 3. Digital clubbing is the most frequent finding in this disease.…”

“…Hyperplasia of the sebaceous glands may cause the facial skin to appear oily. The ocular manifestations of PDP may include blepharoptosis severe enough to obstruct vision, floppy eyelid syndrome and ocular discomfort due to hypertrophy of eyelid and palpebral conjunctiva 2, 3. Herein, we describe the rare occurrence of blepharoptosis and floppy eyelid syndrome in a patient with PDP and its surgical outcomes.…”

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

“…The diagnosis should only be made when at least two out of a family history, hypertrophic skin changes, bone pain/radiographic changes, or clubbing are existing . The exact incidence is not known but estimated prevalence of the disease is 0.16% . We report a case of complete primary PDP that presented to Jordan University Hospital which is the second reported case of its kind in Jordan…”