Touraine Solente Gole syndrome: The elephant skin disease
A 27-year-old male presented with complaints of progressive thickening of facial skin for past 5 years. Thickened forehead skin subsequently developed deep transverse furrows []. Associated broadening of fingers and toes with painless clubbing of nails were noticed []. Recurrent episodes of pain and swelling over knee and ankle joints had occurred over the past 1 year, for which he was prescribed steroid and non-steroidal anti-inflammatory medications causing symptomatic relief. There were no significant complaints pertaining to cardiac respiratory or gastrointestinal systems, any history of fever or recent weight loss. No other member of his family exhibited similar complaints.\nOn examination, the patient showed coarse facial features with increased facial skin thickness, seborrhoeic hyperplasia, deepening of nasolabial folds and furrowing of forehead skin into multiple transverse folds. Scalp skin showed furrows oriented parallel to the sagittal plane, with normal hair distribution and no fixity of skin to the underlying calvarium [].\nOn investigation, his haemogram, blood counts, erythrocyte sedimentation rate, peripheral smear, platelet counts, liver and renal function tests and serum electrophoresis were within the normal limits. Serum uric acid value was 4.8 mg/dl. Anti-nuclear antibody and rheumatoid factor were negative, with elevated C reactive protein value of 41.6 mg/L. Human growth hormone assay showed 1.34 ng/ml using chemiluminescence immunoassay method. Age and sex matched insulin-like growth factor 1 level was also within normal limits.\nX-rays of long bones showed minimal skeletal changes with periosteal reaction involving diaphysis of fibula, without any evidence of joint effusions []. Magnetic resonance imaging showed diploic space enlargement in calvarium indicating marrow hyperplasia []. Sella turcica and pituitary glands were visualised normally. Skin biopsy showed increased pilosebaceous structures and minimal increase in perivascular and periappendageal inflammatory infiltration. Bone marrow biopsy showed minimal erythroid hyperplasia.\nA frontal rhytidectomy through a browlift incision, with dissection into forehead in the subgaleal and subfrontalis planes was done. A spindle shaped excision of scalp skin and frontalis muscle behind hairline was performed. Skin was sutured without excessive tension, frontalis muscle was repaired with tacking sutures to periosteum. This procedure caused considerable improvement in his forehead furrows, though he is expected to require revision surgeries in future with progression of the disease [].