Pachydermoperiostosis and literature review

Manuscript type : Case Report | Article Date : 2015/02/20

  • Autors

    1. Yian Zheng
    2. Feng Li
    3. Lan Huang
    4. Yang Yongsheng
  • Abstract

    To report two cases of pachydermoperiostosis and to improve the clinic methods of diagnosing and treating this disease. Two pachydermoperiostosis patients in Huashan hospital were reported; the laboratory tests, imaging, and pathology tests had been taken; the related literatures were analyzed. After all the tests, both of the patients were diagnosed with PDP and treated with isotretinoin and clindamycin, one of them took the knee joint synovium resection with no recurrence in the two years after the operation. The patients were diagnosed with PDP by clinical and imaging manifestations. . . . . . . . . . . . .
  • Description


    Pachydermoperiostosis (PDP), also known as To-uraine - Solente - Gole – syndrome, first reported in 1868 by Friedeich, clearly was confirmed as an in-dependent disease in1935 by Touraine, Solente and Gole. It can be divided into primary and secondary subcategories. The secondary one is often second-ary to cardiopulmonary disease, such as lung cancer, chronic lung abscess, congenital heart disease, etc. but with no genetic background. The primary type is a self-limited disease with genetic predisposition. The characteristic clinical manifestations are club-bing and periostosis. Following is a cases of the PDP diagnosed in our hospital.


    A 24-year-old male a factory worker who worked in exposure to polyethylene and high temperature (30 degrees Celsius). He married at the age of 20, and his wife, parents, sister, and son were all healthy. He complained of thickened head and face skin for six years, came to our outpatient department of dermatology for the diagnosis and treatment. He found his finger joints deformed, the double toe joints deformed and enlarged without apparent inducement accom-panied by fatigue but without pain and dysfunction from 6 years ago. Then multiple acne appeared on his head and face with the strong secretion of sebum and large pores. The skin of head and face was thickened with deep skin folds. He suffered from hair loss for two years. He was diagnosed as “Kaschin-Beck’s dis-ease”. The illness was aggravating, especially in the early years, without obvious change in appetite, sleep, and weight. He had no history of comorbid condition. On physical examination vital signs were OK. The growth was moderate and with the anxious face. The scalp was thick with greasy hair and alopetic patches on the head measuring about 10cm in diameter) with large pores and a few scars (Fig. 1). Figure 1 The hands and feet were swelling with the clubbing changes (Fig. 2). Figure 2 Joint effusion was noted on knee and ankle exam (Fig. 3). Figure 3 Other parts of examination were within nor-mal limit. X-ray examination showed the hand bone cortical thickening. Both sides of the metatarsals and phalanges were stubby (Fig. 4), Figure 4 tarsal bones showed decreased bone density with partial bone resorbtion. Periosteal reaction was visible in both sides of the tibia and fibula. The right knee MRI showed Syno-vitis and suprapatellar bursa in the knee joint with a massive effusion. Pathological examination revealed epideral hyperplasia and sebaceous hyperplasia in the dermis with few lymphocytes infiltrating around the capillaries of the superficial dermis. (Fig. 5) Figure 5 The head and facial plastic surgery and the knee joint synovec-tomy was performed.
    Figure 1 Thickened facial skin
    Figure 2 Clubbing changes of both hands
    Figure 3 Bilateral knee joint effusion
    Figure 4 The X-ray results of both sides of feet
    Figure 5 Histopathologic examination showing epidermal hyperplasia and sebaceous hyperplasia in the dermis


    Pachydermoperiostosis is a rare disease affecting the skin and the periosteum. An exact incidence is still un-known. The disease occurs mainly in young men with onset in adolescence or adolescent and men to women ratio of 9:1.1 The etiology and pathogenesis is still unclear. The primary PDP is an autosomal disorder with the genetic predisposition. Genetic background is identified in one third of patients. The secondary one is often secondary to cardiopulmonary disease, such as lung cancer, chronic lung abscess, congenital heart disease, etc. There was no obvious inducements and no similar family genetic tendency that cannot be associated with the genetic predisposition. Bianchi, et al2 found that Steroid Nucleus (SRn) and epidermal growth factor receptor (ECGF) increased in the pa-tients of PDP, the ECGF also increased in the urine. It should be considered that the rate of change of SRn/EGFRLI is associated with the skin change character-istic of the disease, and higher EGF levels in the urine may reflect the systemic change. Silveira3 found that vascular endothelial growth factor (VEGF) increased in the blood of the PDP patients, considering that the clinical manifestations of PDP might be associated with the rise of VEGF. The diagnosis relies mainly on the clinical manifes-tations and radiological examination. Matueei – Cer-inic4 suggested the following diagnostic criteria that based on the analysis of 20 cases, with major criteria including clubbing, skin thickening and periosteum hyperplasia and secondary criteria (sebum overflow, folliculitis, sweating, arthritis, phalangeal osteolysis, gastric ulcer and (or) gastritis, autonomic dysfunction presenting as red face, pallor, hypertrophic gastropa-thy and cutis verticis gyrate).4 There are no effective treatments for the disease. The reported treatments are all experimental. Reports show that the knee joint swelling and other symptoms can be successfully improved by using prednisone; joint cavity effusion can be improved by non-steroi-dal anti-inflammatory drugs; joint symptoms can be improved by inhibiting the synthesis of the prosta-glandin by restraining the activation of the lympho-cyte and the differentiation of the activated T cells. It can also inhibits the leukocyte aggregation, reducing formation of bradykinin, and inhibiting the platelet aggregation inhibiting inflammation. The literature reported that the sensitivity of the sex hormones re-ceptors increases in patients with PDP and the growth factor is generated that causes the tissue hyperplasia and hypertrophy. Using tamoxifen can alleviate the joint pain.5 Colchicine can improve joint pain, follic-ulitis and skin thickening by inhibiting the cell proliferation. Guyot–Drouot treated 5 patients using the pamidronate. The main mechanism may be through inhibiting the action of the osteoclasts, thereby reduc-ing bone destruction.6 Beauregard reported that using isotretinoin was an effective treatment.7 The main mechanism may be through inhibiting the sebaceous glands secretion, proliferation and differentiation, improving the symptom of the acne and skin thickening. And the plastic surgery could be considered as the last resort in case of serious skin damage of the face and head. The patient had no joint pain. We chose oral isotreti-noin 20 mg/day. Isotretinoin inhibits the proliferation of the sebaceous gland, restrains the activity of the sebaceous glands secretion of sebum, and reduces the keratinization of the epithelial cells and the em-bolism of the follicle where the sebaceous glands are secreting. Clindamycin hydrochloride gel prescribed to control bacterial infection and secretion of sebum. Synovectomy was performed with no recurrence in the two years follow up period.

  • Reference

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    2. 2.Bianchi L, Lubrano C, Carrozzo AM, et al. Pachydermoperiostosis: study of epidermal growth factor and steroid receptors. The British journal of dermatology 1995;132:128-33.
    3. 3.Silveira LH, Martinez-Lavin M, Pineda C, FonsecaMC, Navarro C, Nava A. Vascular endothelial growth factor and hypertrophic osteoarthropathy. Clinical and experimental rheumatology 2000;18:57-62.
    4. 4.Harbison JB, Nice CM, Jr. Familial pachydermope-riostosis presenting as an acromegaly-like syndrome. The American journal of roentgenology, radium therapy, and nuclear medicine 1971;112:532-6.
    5. 5.Maeda H, Kumagai K, Konishi F, et al. Success-ful treatment of arthralgia with tamoxifen citrate in a patient with pachydermoperiostosis. Rheumatology 2000;39:1158-9.
    6. 6.Guyot-Drouot MH, Solau-Gervais E, Cortet B, etal. Rheumatologic manifestations of pachydermoperi-ostosis and preliminary experience with bisphospho-nates. The Journal of rheumatology 2000;27:2418-23.
    7. 7.Beauregard S. [Cutis verticis gyrata and pachydermoperiostosis. Several cases in a same family. Initial results of the treatment of pachyderma with isotretinoin]. Annales de dermatologie et de venereologie 1994;121:134-7