Unilateral pachydermodactyly misdiagnosed as juvenile idiopathic arthritis: A case report.

RATIONALE: Pachydermodactyly is a rare, benign disease that can manifest in healthy adolescent boys as painless, spindle-shaped, soft-tissue swelling of the proximal interphalangeal joints in the hand. It is usually bilateral, with symmetrical joint enlargement. There are relatively few documented cases of pachydermodactyly worldwide, signifying either a low incidence or lack of recognition by physicians; therefore, its diagnosis is challenging. PATIENT CONCERNS: A 16-year-old boy with a 3-year history of painless unilateral swelling of the proximal interphalangeal joints of his left hand was misdiagnosed with juvenile idiopathic arthritis and was treated with oral methotrexate for 1 year. He had a history of frequent finger cracking. DIAGNOSIS: He had normal levels of inflammatory markers, including erythrocyte sedimentation rate and C-reactive protein. His autoantibody profile results were normal, and radiography of his hands showed soft tissue swelling with no bone abnormalities. Therefore, the patient was diagnosed with Parkinson disease. INTERVENTIONS: Methotrexate was discontinued, and a skin biopsy was performed, which revealed hyperkeratosis in the epidermis with thick collagenous fibers in the dermis. Therefore, the patient was informed of the benign nature of the disease and was advised to stop cracking his fingers. OUTCOMES: After regular follow-up, there was no progression of the patient's symptoms, and repeated blood tests revealed normal results. LESSONS: Pachydermodactyly should be considered in the differential diagnosis of painless swelling in adolescent men with normal blood testing. Early recognition of this rare benign condition helps physicians appropriately reassure the patient and his parents without exposing them to unnecessary therapy.

Pachydermodactyly presenting as juvenile idiopathic arthritis in an adolescent man.

We present the case of a 17-year-old Asian man diagnosed with pachydermodactyly, a rare digital fibromatosis. Although this is a non-inflammatory periarticular soft tissue disorder, the clinical appearance can mimic inflammatory arthritis. The patient had a 2-year history of fusiform swelling of multiple proximal interphalangeal joints. He was initially diagnosed with juvenile idiopathic arthritis and treated with methotrexate, but a lack of clinical response led to the diagnosis of pachydermodactyly. Recognising this rare condition can prevent unnecessary and potentially harmful treatment.

Pachydermodactyly: A Case Report of a Little-Known and Benign Form of Digital Fibromatosis.

BACKGROUND Pachydermodactyly, a benign and self-limiting cause of cutaneous fibromatosis, is an under-recognized condition. This little-known condition is important, as it mimics inflammatory arthropathy. CASE REPORT A 16-year-old male presented with a 2-year history of progressive, asymptomatic soft tissue swelling of the proximal interphalangeal joints (PIPJs) affecting the second to fourth fingers bilaterally. He had participated in kayaking for the last 1-2 years. Physical examination revealed only painless, saccular, subcutaneous swelling around the PIPJs. Plain radiograph and MRI showed cutaneous thickening around the PIPJs, with no evidence of arthropathy. Blood investigations including inflammatory markers and autoimmune panel were normal. Skin biopsy showed thickened collagen in the dermis, acanthosis, and hyperkeratosis. The patient and family opted for observation and cessation of kayaking. Follow-up at 2 years showed stable disease. A diagnosis of pachydermodactyly was made. CONCLUSIONS Progressive, asymptomatic swelling of proximal interphalangeal joints, especially in young males, should prompt the consideration of pachydermodactyly as a potential differential diagnosis. Because of its benign course, correct recognition can help to prevent undue patient anxiety and avoid inappropriate investigation and treatment.

Congenital infantile digital fibromatosis: a case report and review of the literature.

Infantile digital fibromatosis (IDF), also called inclusion body fibromatosis is an uncommon benign tumour occurring in the digits of young children. In about a third of cases, it is congenital and the diagnosis is based on the presence of peculiar intracytoplasmic inclusions on histology. Recurrence rate post-surgery is high. However, spontaneous regression has been reported. We present a case of a 5-month-old infant who had excision of a right second toe mass, which has been present from birth. Histological examination revealed this to be infantile digital fibromatosis. To the best of our knowledge, no report of this has been made in Nigeria. It is important that this diagnosis be entertained in young children with masses on the digits as this will influence the management instituted.

Clinical features and management of superficial fibromatoses.

Fibromatoses are a group of benign connective tissue tumors characterized by the infiltrative, aggressive proliferation of well-differentiated fibroblasts, leading to frequent local recurrence. Within this heterogeneous disease group, superficial fibromatoses show slower growth and more benign infiltration of surrounding tissues than deep fibromatoses. Superficial fibromatoses relevant to dermatology include palmar, plantar, and penile fibromatosis, knuckle pads, pachydermodactyly and infantile digital fibromatosis. They present clinically with subcutaneous nodules or cords that lead to local infiltration and limited mobility of the affected areas. Treatment options vary from watchful waiting, non-invasive methods such as radiotherapy and intralesional corticosteroid/collagenase injections to radical surgical procedures. Early intervention may disrupt disease progression and may even restore functional ability. These disorders should therefore be recognized and treated early in the course of the disease.

Pachydermodactyly: Case report including clinical and histopathologic diagnostic pitfalls.

Pachydermodactyly (PDD) is a rare, benign condition characterized by swelling and thickening of the periarticular skin, most commonly at the proximal interphalangeal joints. Diagnosis is routinely made through correlation of clinical, histopathologic, and radiographic findings. Here, we report a case of PDD in a 25-year-old male, with emphasis on the clinical and histopathologic differential diagnosis and potential diagnostic pitfalls.

Management of Complications Caused by a Massive Left Ventricle Tumor in a Neonate.

We report the case of a neonate born with a giant fibroma occupying the entirety of her left ventricle. Owing to the extensive resection, her postoperative course was complicated by severely diminished left ventricular function and complete heart block necessitating extracorporeal support. Ultimately, cardiac resynchronization therapy was used, after which the infant's ventricular function gradually improved and she was successfully discharged to home.

H3.1 K36M mutation in a congenital-onset soft tissue neoplasm.

We describe a patient who presented with a congenital soft tissue lesion initially diagnosed as infantile fibromatosis at 15 days of age. Unusually, the mass demonstrated malignant progression leading to death at 20 months of age. Biological progression to malignancy is not known to occur in fibromatosis, and fibrosarcoma is not known to progress from a benign lesion. Whole-exome sequencing of the tumor identified a driver mutation in histone H3.1 at lysine (K)36. Our findings support the link between oncohistones and infantile soft tissue tumors and provide additional evidence for the oncogenic effects of p.K36M in H3 variants.

Congenital Infantile Fibrosarcoma Associated With a Lipofibromatosis-Like Component: One Train May Be Hiding Another.

Congenital infantile fibrosarcoma (CIFS) is a soft tissue sarcoma of infants mainly involving lower extremities and usually developing during the first year of life. At another end of the spectrum of pediatric fibroblastic lesions, lipofibromatosis is a rare benign infiltrative soft tissue tumor that affects children. The authors report in this study a particular presentation with a CIFS surrounded by lipofibromatosis-like areas. The presence of a surrounding benign tumor confused and delayed CIFS diagnosis.

Intraoperative cardiac mapping in the treatment of an infant congenital fibroma.

Surgical treatment for ventricular tachycardia associated with congenital cardiac tumors is rare. Intraoperative electroanatomic mapping was performed in a 23-month-old female infant to identify the arrhythmogenic substrate of the epicardium before tumor resection. Verification of the localized abnormal electrocardiogram on the tumor in the treatment of ventricular tachycardia was useful for successful partial resection and cryoablation of the giant fibroma.

Pachydermodactyly: Three new cases in Taiwan.

Pachydermodactyly (PDD), Greek for thick-skin-finger, is an infrequently recognized benign disorder characterized by painless fusiform swelling of the soft tissues around the proximal interphalangeal joints of the hands. Histopathologic features include increased dermal accumulation of collagen fibers. Young males are predominantly affected. PDD is quite rare with approximately 90 cumulative cases reported worldwide. We report three new cases of PDD in Taiwan, including two female patients. Except for patient 1 having the habit of cracking the knuckles, and patient 2 having a history of patent ductus ateriosus post catheterization, the histories of all three patients were unremarkable. X-ray of bilateral hands revealed no abnormal finding except for soft tissue swelling around proximal interphalangeal joints. Laboratory examinations all showed negative results. No local or systemic treatment was given to these patients to treat PDD, with the exception of non-steroidal anti-inflammatory drugs prescribed to one patient for a short period. Skin care with local irritation avoidance was explained to all three patients. The long-term outcome of PDD was benign.

Pachydermodactyly--role of local corticotherapy.

Pachydermodactyly is a rare skin disease, defined as a benign form of digital fibromatosis. It is clinically characterized by painless hypertrophy of the skin around the proximal interphalangeal joints of the fingers, more common in males. This rare condition can affect both hands and is often associated with mechanical injury of the skin. Although there is no specific therapy, cessation of mechanical trauma associated with topical corticosteroid therapy can lead to satisfactory results. We present 3 sporadic cases of classical pachydermodactyly, anatomopathologically confirmed by the presence hyperkeratosis and acanthosis, which responded favorably to topically applied corticosteroids under occlusive dressings.

Successful resection of a primary cardiac fibroma in a neonate: report of a case.

During the fetal-neonatal period, a primary cardiac tumor may be completely asymptomatic and such tumors may be incidentally discovered by echocardiography. A four-hour-old male was diagnosed to have a cardiac tumor by post-natal echocardiography and was observed closely. Surgery was indicated immediately at the 3 week follow-up examination when the tumor was found to have obstructed the right ventricle outflow. The tumor was resected successfully and its histopathology indicated that it was a fibroma. Follow-up echocardiograms and magnetic resonance imaging 5 months postoperatively demonstrated no evidence of any remaining tumor and his RV function was good.

Congenital peripheral developing odontoma accompanied by congenital teratomatous fibroma in a 9-month-old boy: a case report.

Peripheral odontoma is rare, and only two cases of congenital peripheral odontoma have been reported. Congenital oral fibroma is also rare. We describe a unique case of congenital peripheral developing odontoma accompanied by congenital teratomatous fibroma in an infant. Both tumors were difficult to detect on radiography. Two small masses were seen in the median anterior portion of the palatal mucosa of a 9-month-old boy. The masses had been present since birth and were surgically removed at age 28 months, when one of the masses had grown to a diameter of 8 mm. Histopathologic examination showed a fibrous lesion and a tooth germ-like rounded lesion composed of dental papilla, enamel organ, dentin, and cementum. Although congenital odontoma is rare, it should be considered when selecting appropriate treatment, as early radiographic detection is difficult.