Clinical Outcomes of Utilizing a "W"-shaped Incision in the Management of Forehead Skin Thickening Induced by Hypertrophic Osteoarthropathy.

BACKGROUND: Hypertrophic osteoarthropathy (HOA) is a rare and intricate hereditary disease. The appearance and functional deformity of the forehead caused by thickened folds are the main clinical manifestations of patients with hypertrophic osteoarthropathy. The cause of this disease is still unknown. Currently, surgical treatment has become one of the best strategies, mainly for improving the appearance of the forehead. There has been no literature report on the use of "W"-shaped skin flap resection for thickened forehead skin in patients with hypertrophic osteoarthropathy. METHODS: All cases of hypertrophic osteoarthropathy in our department in the last 7 years, and previous literature on hypertrophic osteoarthropathy, were reviewed. RESULTS: A total of 5 cases of hypertrophic osteoarthropathy in our department (mean age 21 years, all male patients) were reviewed. All patients underwent open surgery to remove the thickened skin on the forehead or the wrinkles and gyrus-shaped scalp. The jagged skin tissue was removed (8-9) cm × (1-2.5) cm × 0.5 cm. The folds and thickness of the frontal skin of the patients were greatly improved after the operation. Patient satisfaction with the treatment outcomes was unanimous. However, one case experienced a postoperative wound infection during follow-up. The utilization of the "W"-shaped excision technique allowed for the maximal removal of excessively diseased tissue, thereby facilitating a smoother resolution of the depression. CONCLUSIONS: A total of 5 cases of hypertrophic osteoarthropathy were treated in our department, and all of them underwent frontal skin "W"-shaped excision, which was safe, feasible, and practical, and the postoperative results were satisfactory. LEVEL OF EVIDENCE IV: This journal requires that authors assign a level of evidence to each article. For a full description of these Evidence-Based Medicine ratings, please refer to the Table of Contents or the online Instructions to Authors www.springer.com/00266 .

Comprehensive Surgical Strategies for the Management of Pachydermoperiostosis.

The cosmetic and functional deformities induced by thickened folds and furrows are the main complaints of patients in pachydermoperiostosis (PDP). However, traditional drug therapy only has a limited effect for its unclear genetic pathogenesis. Surgical treatment has now become one of the optimal strategies mainly aiming for its cosmetic improvement. Here we describe a comprehensive management of PDP approached with surgical procedure thereby showing markedly improved cosmetic outcome. Experientially, the surgical treatment of PDP is effective and may be preferentially recommended for PDP patients especially of severe degree.

Pachydermoperiostosis: aesthetic treatment of prematurely aging face with facelift and botulinum toxin a.

Pachydermoperiostosis is a rare syndrome that hinders patients' quality of life thru its aesthetics manifestations and functional obstacles. Many techniques for addressing and correcting aesthetic defects associated with pachydermoperiostosis have been introduced, including facelift surgery. This case presentation includes treatment of facial pachydermoperiostosis and restoration of facial aesthetics via treatment with facelift, skin muscle excision, and botulinum toxin A.

Cardiac metastasis and hypertrophic osteoarthropathy in recurrent infantile fibrosarcoma.

Cardiac metastasis and hypertrophic osteoarthropathy are both quite rare. We describe a patient presenting with hypertrophic osteoarthropathy as the first symptom of recurrent infantile fibrosarcoma (IF). During surgical resection of lung metastasis, the patient suffered sudden cardiac arrest. Autopsy demonstrated a metastatic lesion in the intraventricular septum of the heart, which is previously undescribed in the literature. This case demonstrates that IF can be aggressive despite its more typical benign course.

Juvenile Disease Processes Affecting the Forelimb in Canines.

Several juvenile diseases affect the canine forelimb. The most common are hypertrophic osteodystrophy, panosteitis, and retained cartilaginous core. Panosteitis and hypertrophic osteodystrophy tend to be self-limiting, with a good long-term prognosis, although severe cases can develop. These diseases may recur during growth. Severe cases of hypertrophic osteodystrophy can lead to angular limb deformities and may even be fatal. Retained cartilaginous cores can be benign with no evidence of clinical signs and be found incidentally on radiographs. However, if they disrupt the distal ulnar physis, angular limb deformities may persist requiring surgical intervention with a corrective osteotomy.

Feet Deformity and Gait Disturbance in a Patient with Pachydermoperiostosis (PDP). Case Study.

Pachydermoperiostosis is a rare condition representing a primary form of hypertrophic osteoarthropathy. It presents in different stages. Patients often overlook early symptoms, because they are benign. The most common manifestations are clubbing of the fingers and toes, skin thickening with characteristic folds on the face and head and widening of joints accompanied by radiological changes. Surgical treatment is not often needed, and, consequently, there are no strict guidelines on surgical management, which is mainly based on case report ana-lysis. This paper presents a case of surgical management of pachydermoperiostosis.

Frontal rhytidectomy as surgical treatment for pachydermoperiostosis: a case report.

The thickened folded skin of Touraine-Solente-Golé syndrome can result in cosmetic and functional deformities. The treatment of pachydermoperiostosis is usually centered around improving the cosmetic appearance through plastic surgery. We describe the case of a 27-year-old male who had pachydermoperiostosis with a leonine facies that was managed with frontal rhytidectomy. A greatly improved cosmetic appearance was achieved with this procedure.

[Correction of finger clubbing in primary hypertrophic osteoarthropathy (Touraine-Solente-Gole syndrome)]. / Korrektur der Trommelschlegelfinger unter ästhetischen Aspekten bei hereditärer hypertropher Osteoarthropathie (Touraine-Solente-Gole-Syndrom).

Finger clubbing can be a single physical finding. In Touraine-Solente-Gole syndrome, the primary form of hypertrophic osteoarthropathy, it is mostly associated with bone pain, hyperhydrosis, pachydermy and wrinkling of the forehead. In other cases, the presence of clubbing is associated with neoplastic, pulmonary, cardiac or other diseases and is then called Bamberger-Pierre-Marie syndrome, the secondary type of hypertrophic osteoarthropathy. The patient's history and careful physical examination, sometimes accompanied by laboratory and imaging studies, leads to the diagnosis. A patient with hereditary hypertrophic osteoarthropathy and its clinical symptoms is presented. Surgical correction of the clubbing fingers is demonstrated in the paper with bilateral resection and shortening of the nail bed, nail matrix and resection of soft tissue. Clubbing fingers are rare, but they might be part of a syndrome or a symptom of other diseases. Reconstructive surgery for aesthetic reasons can be performed.

Reversible autonomic neuropathy and hypertrophic osteoarthropathy in a patient with bronchogenic carcinoma.

We report a case of adenocarcinoma of the lung with pandysautonomia and pulmonary osteoarthropathy. Surgical resection of the tumor followed by radiation therapy for the residual tumor resulted in complete resolution of arthropathy and almost complete recovery from autonomic dysfunction. The symptoms of arthropathy and autonomic neuropathy recurred simultaneously several months later with increase in the tumor mass as confirmed at second surgical exploration. The second thoracotomy revealed an inoperable tumor. Following the second thoracotomy, while the arthropathy was relieved, the autonomic neuropathy persisted. We concluded that autonomic neuropathy is related to the tumor mass, and pulmonary osteoarthropathy and autonomic neuropathy are probably caused by different mechanisms, as yet undefined.

Idiopathic chronic hypertrophic craniocervical pachymeningitis: case report.

A 55-year-old woman with a unique form of chronic hypertrophic pachymeningitis involving the posterior fossa and upper cervical spine is reported. Unlike other cases previously described, the clinical picture was dominated by signs of increased intracranial pressure, lower cranial nerve disorders, and a progressive cervical radiculomyelopathy. The diagnosis was made by means of a contrast-enhanced magnetic resonance imaging scan and confirmed by histological examination of the excised dura. Surgical treatment with removal of the hypertrophic dura provided temporary relief, although the natural history of the disease was not modified. Exhaustive bacteriological and histopathological studies failed to identify a specific cause for this diffuse hypertrophy of the cranial and cervical dura. The literature is reviewed, and other histologically documented cases are discussed.

The medical and surgical treatment of finger clubbing and hypertrophic osteoarthropathy. A blind study with colchicine and a surgical approach to finger clubbing reduction.

In fourteen patients affected with pachydermoperiostosis (PDP), or primary hypertrophic osteoarthropathy, the efficacy of colchicine (0.5 mg day for one month) versus placebo on the main clinical features of the disease (finger clubbing, arthritis and pachydermia) was evaluated. In addition, in one patient the usefulness of surgical reduction of clubbed fingertips was investigated. Colchicine did not demonstrate any appreciable effect on finger clubbing (expressed in degrees) or pachydermia, while an effect on arthralgia (as evaluated by the Ritchie Index and Pain Scale) was observed. The surgical treatment of clubbed fingertips failed to show a satisfactory and stable reduction of the fingertips; two months after surgery the nail matrix apparently produced new tissue, once again enlarging and deforming the finger. These results suggest that low dose colchicine cannot be considered the drug of first choice for the treatment of PDP, while higher dosages, although effective, are not tolerated because of the severe side effects. An effective medical and surgical treatment for PDP will be found only when the pathogenetic mechanisms of the disease are clarified.

Eyelid reconstruction in pachydermoperiostosis.

Our experience with an unusual case of pachydermoperiostosis is described. This case was accompanied by enlargement of the eyelids, excessive secretions, and difficulty in opening the eyes. Partial and serial excisions of the upper and lower eyelids were done to correct the thickened eyelids. As a result of the operations, this patient can open his eyes fully and the secretions have decreased.

[Pachydermoperiostosis with extramedullary hematopoiesis without myelofibrosis]. / Pachydermopériostose associée à un foyer d'hématopoïèse extra-médullaire sans myélofibrose.

BACKGROUND: In three previous reports of primary hypertrophic osteoarthropathy, an associated extramedullary hematopoiesis was related to myelofibrosis. CASE REPORT: A 44-year-old male patient with primary hypertrophic osteoarthropathy diagnosed when he was 34-year-old was referred to our hospital with an abdominal mass fortuitously detected. DISCUSSION: The present case is unique for the patient developed an extramedullary hematopoïesis without associated myelofibrosis. It suggests the possible intervention of growth factors common to the skin fibroblasts and the blood progenitor cells in the pathogenesis of primary osteoarthropathy.

Pachydermoperiostosis in an African patient caused by a Chinese/Japanese SLCO2A1 mutation-case report and review of literature.

OBJECTIVES: Pachydermoperiostosis is a rare clinical entity characterized by skin thickening of the forehead, eyelids, and hands, digital clubbing, and periostosis. Two genes have been associated, HPGD and recently SLCO2A1. We present a detailed clinical and genetic description of an African pachydermoperiostosis patient with a SLCO2A1 mutation. METHODS: Standard clinical and laboratory evaluation was carried out. Genetic screening was done with PCR followed by direct sequencing. We discuss the clinical features and known mutations of previously reported cases identified through a PubMed literature review. RESULTS: The clinical findings showed special features, including exuberant knee effusions and an extraordinary good response on surgery of the blepharoptosis. We found a splice site mutation in the SLCO2A1 gene in homozygous form: c.940+1G>A. This mutation was previously reported only in 1 Chinese and 3 Japanese cases and was considered as a founder mutation in Japan. Beside our case, only one other patient in the literature carried this mutation in homozygous condition, but with different main clinical symptoms. CONCLUSIONS: Our case demonstrates phenotypic heterogeneity of PDP even between homozygous carriers of the same mutation, suggesting further modifiers. Besides, it shows that this rare SLCO2A1 mutation is not exclusively present in East-Asia, but can occur in various ethnicities, with different origin, thus the incidence is probably underestimated.

Tratamento cirúrgico da paquidermoperiostose primária - relato de dois casos / Surgical Treatment of Primary Pachydermoperiostosis: Report of Two Cases / Surgical Treatment of Primary Pachydermoperiostosis: Report of Two Cases

A paquidermoperiostose primária é uma doença rara, caracterizada por aposição excessiva do periósteo do crânio, coexistindo com espessamento da epiderme e derme (paquidermia), provocando deformidades grosseiras. Devido à diversidade de estruturas acometidas, há várias opções cirúrgicas e métodos complementares que são utilizados no tratamento das alterações faciais desses pacientes. Esse trabalho apresenta o lifting subperiosteal como uma opção de tratamento estético para a face de pacientes portadores dessa síndrome, através do relato de dois casos operados no Hospital das Clínicas da Universidade Federal de Minas Gerais.

Primary pachydermoperiostosis is a rare disease characterized by excessive skull affixing of the periosteum, coexisting with thickening of the epidermis and dermis (pachydermia), thereby causing gross deformities. Owing to the variety of affected structures, there are several surgical options and complementary methods that are used in the treatment of facial alterations in these patients. This report describes the use of subperiosteal detachment as an aesthetic treatment option for the faces of two patients with primary pachydermoperiostosis, operated at the Hospital das Clínicas of the Federal University of Minas Gerais.

A case of pachydermoperiostosis treated by oral administration of a bisphosphonate and arthroscopic synovectomy.

Pachydermoperiostosis (PDP) is a rare hereditary disorder characterized by pachydermia, digital clubbing, and periosteal hypertrophy. Here, we report a case of PDP showing symptoms consistent with arthritis, which was treated by oral administration of risedronate sodium and arthroscopic synovectomy.