Akrout Rim, Bendjemaa Samar, Fourati Héla, Ezzeddine Mariem, Hachicha Imene, Baklouti Soufiene
Rheumatology Department, Hedi Chaker Hospital, Sfax, Tunisia.
J Med Case Rep. 2012 Jan 24;6:31. doi: 10.1186/1752-1947-6-31.
Pachydermoperiostosis or primary hypertrophic osteoathropathy is a rare genetic disease with autosomal transmission. This disorder, which affects both bones and skin, is characterized by the association of dermatologic changes (pachydermia or thickening of the skin) and rheumatologic manifestations (periostosis and finger clubbing). Here, we report a new observation of pachydermoperiostosis.
A 20-year-old North African Tunisian Caucasian man presented with hypertrophic osteoarthropathy. On a clinical examination, we found morphologic abnormalities of his face and extremities associated with skin changes. The laboratory findings were normal. A work-up disclosed no organic etiology. The final diagnosis consisted of pachydermoperiostosis syndrome.
Pachydermoperiostosis is a rare entity that should be differentiated from secondary hypertrophic osteoarthropathy and chronic rheumatic diseases.
厚皮性骨膜病或原发性肥大性骨关节病是一种罕见的常染色体显性遗传病。这种疾病同时影响骨骼和皮肤，其特征是皮肤改变（厚皮症或皮肤增厚）和风湿性表现（骨膜增生和杵状指）并存。在此，我们报告一例厚皮性骨膜病的新病例。
一名20岁的北非突尼斯裔白人男性患有肥大性骨关节病。临床检查发现其面部和四肢存在形态异常并伴有皮肤改变。实验室检查结果正常。进一步检查未发现器质性病因。最终诊断为厚皮性骨膜病综合征。
厚皮性骨膜病是一种罕见疾病，应与继发性肥大性骨关节病和慢性风湿性疾病相鉴别。
