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• W2119027448 abstract "Sir, A 34 years unmarried male patient came to the dermatology department with insidious development of very pronounced skin folds over the forehead, between the eyes, and in the nasolabial grooves. Several very noticeable folds (cutis verticis gyrate [Figure 1]) were also evident in the occipital region. Thickened eyelid edges and ptosis were also evident, and the patient's general facial expression was sad. The skin of the hands was rough to touch. The patient's fingers were enlarged and showed evidence of clubbing, and likewise the toes, which in addition had thickened nails [Figure 2]. Routine tests (complete blood count, erythrocyte sedimentation rate, serum electrolytes, blood sugar, blood urea nitrogen, creatinine, uric acid, calcium, phosphorus, liver and thyroid function, lipid profile) revealed no abnormality. Hand radiography showed hyperostosis and periostitis in the metacarpal bones and proximal phalanges and tumefaction of the soft tissues. Chest radiography, electrocardiogram, and computed tomography scan of chest were normal. A skin biopsy of the back of the hand showed a normal epidermis and a thickening of the dermis due to collagen fibers. Based on the clinical, radiological and histopathologic features, we arrived at a diagnosis of pachydermoperiostosisFigure 1: Cutis verticis gyrata and ptosisFigure 2: Fingers and toes show clubbing and are enlargedPachydermoperiostosis also referred to as primary hypertrophic osteoarthropathy is a rare entity. Some of the abnormalities caused by this syndrome were described by Hippocrates in 450 BC and were also observed in skeletons found in Central America around the same time. Primary hypertrophic osteoarthropathy was first described by Friedrich in 1868 as “hyperostosis of the entire skeleton.[1]” In 1890, Pierre Marie defined it as pneumonic hypertrophic osteopathy. Touraine et al.[2] characterized pachydermoperiostosis as a primary form of hypertrophic osteopathy in 1935 and recognized the disease as inherited with three possible presentations: A complete form that co-occurs with pachydermia and periostosis; an incomplete form without pachydermia; and a forme fruste or minimal form with pachydermia and minimal bone modifications. Pachydermoperiostosis predominates in males. The disease often hereditary is transmitted in autosomal dominant form with incomplete penetrance. However, cases have also been described that are transmitted in autosomal recessive form. Chromosomal abnormalities and a greater incidence of the HLA-B12 antigen have also been detected in these patients. The disease typically appears in infancy and adolescence, progresses for a number of years, and then stabilizes.[3] Pachydermia that affects the face and limbs is the most frequent skin symptom. Patients may also present with seborrhea, acne, folliculitis, dilated pores, hyperhidrosis of the palms and soles, large skin folds, and reduced facial and pubic hair. The clinical picture is of interest because of the importance of distinguishing between the primary pachydermoperiostosis and the secondary form of the disease. Secondary hypertrophic osteoarthropathy is typically preceded by lung disorders (tumors, abscesses, emphysema, bronchiectasias, cystic fibrosis), cardiac disorders (congenital diseases, endocarditis), hepatic processes (cirrhosis, neoplasms), intestinal processes (neoplasms, inflammatory bowel disease, polyposis), and/or thyroid diseases (Graves' disease). Bone lesions in this secondary form are more painful and progress more rapidly, whereas skin changes range from slight to moderate. The prognosis ultimately depends on the underlying disease. Treatment is symptomatic. Our patient had the complete form of pachydermoperiostosis, since he had hyperostosis, finger clubbing, and pachydermia." @default.
• W2119027448 created "2016-06-24" @default.
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• W2119027448 date "2015-01-01" @default.
• W2119027448 modified "2023-09-30" @default.
• W2119027448 title "Pronounced skin folds with finger clubbing" @default.
• W2119027448 cites W2136985129 @default.
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• W2119027448 doi "https://doi.org/10.4103/2229-5178.164492" @default.
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