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|Year : 2014 | Volume
| Issue : 2 | Page : 205-206
Learning difficulty and pachydermoperiostosis
MP Gajre, RP Khubchandani, K Mahathi, R Mendadkar
Department of Pediatrics, Division of Pediatric Neurology and Epilepsy, Learning Disability Clinic, Lokmanya Tilak Municipal Medical College and Lokmanya Tilak Municipal Medical College, Sion, Jaslok Hospital and Research Centre, Mumbai, Maharashtra, India
|Date of Web Publication||13-May-2014|
Dr. M P Gajre
Department of Pediatrics, Division of Pediatric Neurology and Epilepsy, Learning Disability Clinic, Lokmanya Tilak Municipal Medical College and Lokmanya Tilak Municipal Medical College, Sion, Jaslok Hospital and Research Centre, Mumbai, Maharashtra
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Gajre M P, Khubchandani R P, Mahathi K, Mendadkar R. Learning difficulty and pachydermoperiostosis. J Postgrad Med 2014;60:205-6
| :: Introduction|| |
A 14-year-old adolescent boy was referred to the learning disability clinic with academic issues secondary to profuse palmoplantar hyperhidrosis of insidious onset. This socially embarrassing handicap interfering with activities like writing, eating, and shaking hands was aggravated during stressful situations like exams and taking a tremendous toll on his self-confidence leading to poor peer interaction, refusal to participate in outdoor play and avoidance of situations involving physical contact with others. He gave a history of acyanotic congenital heart disease which was operated in childhood but no other prolonged systemic complaints. Physical exam revealed a marfanoid habitus with erythema and hyperkeratosis of the palms with grade four digital clubbing. There was no focal neurological deficit. Swelling with restriction of movement was observed in the knees and fingers. There was no family history suggesting similar complaints.
| :: Diagnosis and Differential Diagnosis|| |
Investigations were carried out for possible noncardiac causes of clubbing since his postoperative echocardiogram was normal. Investigations for a pulmonary and gastrointestinal cause were put on hold because of prominent skin and joint involvement and absence of systemic complaints. However, endocrine work up to rule out thyroid and parathyroid abnormalities was negative and blood counts were normal ruling out secondary causes of hyperhidrosis. The diagnosis of pachydermoperiostosis was confirmed after radiological examination and by a pediatric rheumatologist.
| :: Discussion|| |
Pachydermoperiostosis is a rare syndrome of unknown incidence, with a male preponderance. ed (9:1).  Chromosomal abnormalities have been reported, but no definite locus had been identified. It is characterised by hyperhidrosis [Figure 1], digital clubbing, subperiosteal new bone formation [Figure 2], polyarthritis, seborrhoea, and cutis verticis gyrata.  The osteoarthropathy begins during childhood, and progresses gradually over years before stabilizing. Skin changes lead to coarse facial features with thickening, furrowing, and excessive oiliness of the skin of the face and forehead. Bone and joint involvement includes arthritis, arthralgia, periosteal new bone formation, subperiosteal ossification, acroosteolysis (seen in our patient), and osteoporosis.  Gastric hypertrophy, gastric ulcers, Crohn's disease,  malignancies,  and other endocrine abnormalities  have been described as associations. The associated hyperhidrosis can have physiological consequences such as cold and clammy hands, dehydration, and skin infections secondary to maceration of the skin. Diagnosis is essentially clinical and radiological. Osteocalcin  blood levels could be important to determine the degree of activity of the disease. Treatment of the rheumatologic component includes nonsteroidal anti-inflammatory drugs, colchicine, and bisphosphonates. Isotretinoin is used to address the skin symptoms. Plastic surgery may be beneficial for certain deformities. Considering the limitations, ; it was recommended that he be allowed additional time to complete his examinations.
|Figure 1: Ventral surface of enlarged glistening hands due to hyperhydrosis|
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| :: Acknowledgments|| |
- Dr. Mamta Manglani, Professsor and Head, Department of Pediatrics, Lokmanya Tilak Municipal Medical College and Lokmanya Tilak Municipal Medical College, Sion, Mumbai.
- Dean, Dr. Sandhya Kamath- Lokmanya Tilak Municipal Medical College and Lokmanya Tilak Municipal Medical College, Sion, Mumbai.
| :: References|| |
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[Figure 1], [Figure 2]