Terminal osseous dysplasia with pigmentary defects; Case and brief review of filamin A-related disorders.

Terminal osseous dysplasia with pigmentary defects (TOD) is an extremely rare X-linked dominant disorder, which is characterised by cutaneous digital fibromas, pigmentary skin defects and skeletal abnormalities. A single mutation in the last nucleotide of exon 31 of the filamin A gene (FLNA) has recently been identified as a cause of the disease. We describe a case of an 18-month-old girl with the clinical phenotype of TOD and the disease-specific FLNA mutation confirmed by genetic testing. This report highlights the importance of recognising this distinct phenotype that can present to a wide variety of health-care professionals, and reviews the spectrum of filamin A disorders.

Pachydermodactyly: A Case Report Including Histopathology.

Pachydermodactyly (PDD) is a rare form of digital fibromatosis characterized by painless soft tissue swelling, primarily about the proximal interphalangeal joints. The skin at the metacarpophalangeal joints, the palm, and the dorsum of the hand may also be involved. Because swelling can occur over the proximal interphalangeal and metacarpophalangeal joints, PDD may be confused with juvenile inflammatory arthropathy and may even occur concurrently. We present the clinical and histopathologic findings of a case of PDD characterized by bilateral proximal phalangeal involvement of the index through little fingers.

Borderline phyllodes tumour of the breast with eosinophilic inclusion bodies: Case report and molecular sequencing.

INTRODUCTION AND IMPORTANCE: The presence of eosinophilic inclusion bodies in the breast is very rare and fewer than 20 cases were described in the literature. Herein we report the first case of borderline phyllodes tumour associated with this kind of cells. To the best of our knowledge, this is also the first time that a molecular sequencing is made targeting the stroma cells with inclusion bodies. CASE PRESENTATION: A 33-yr-old woman presented a large mass in the right breast. Imaging techniques by mammogram and ultrasonographic examination were performed. After multidisciplinary approach, a breast conserving surgery has been decided. Microscopic analysis, immunohistochemical stains and molecular tests were performed on the lesion. The proposed diagnosis is borderline phyllodes tumour with eosinophilic inclusion bodies. CLINICAL DISCUSSION: Inclusion bodies are typically found in the infantile digital fibromatosis. Finding them in extradigital fibromatosis is rare. Their signification is still unclear. Some studies suggest a disturbance in the metabolism of proliferating myofibroblasts. CONCLUSION: The presence of inclusion bodies in breast tumour do not seem to have a prognosis impact. It might be interesting to perform others molecular tests on lesions with eosinophilic inclusion bodies to discover potential mutations.

Pachydermodactyly: Soft Tissue Enlargement of the Fingers in a Teenager.

Pachydermodactyly (PDD) is an uncommon and benign digital fibromatosis of unknown etiology. It is characterized by a fusiform swelling of the medial and lateral sides of the fingers, with unspecific histopathological features of an increased number of fibroblasts, collagen, and mucin deposit in the dermis. Due to its rarity, PDD could be misdiagnosed as rheumatic arthropathies, which could lead to unnecessary immunosuppressant treatments. Here, we report the case of a 16-year-old boy who presented progressive and asymptomatic soft tissue enlargement of multiple fingers in both hands. The histopathological study and X-ray findings correlated with PDD diagnosis. Intralesional corticoid treatment was indicated with a mild improvement.

Recurrent infantile digital fibromatosis with HPV infection: a case report.

Infantile digital fibromatosis is a rare, benign fibrous tumor among infants usually limited to fingers and toes. Most cases present themselves with round eosinophilic inclusion bodies of different sizes, similar to erythrocyte in the parakarytoplasm. Although infantile digital fibromatosis had been observed with a tendency of spontaneous regression after a rapid phase of growth in some reports, the recurrence rate of early surgical intervention remains high. And the mechanism of recurrence is still unknown. Human papillomavirus (HPV), as a circular icosahedral double-stranded DNA virus, is famous for its remarkable significant correlation with cervical cancer. However, the reports about the possible relationship of recurrent infantile digital fibromatosis and HPV infection are rare and inconsistent. Here, we report a recurrent case of infantile digital fibromatosis after surgical resection. Pathological biopsy of the recurrent site not only identified the diagnosis of infantile digital fibromatosis again, but found the sign of HPV infection. Family history indicated that the patient's grandmother had a history of verruca plana. After complete resection of recurrence, the tumor recurred again and the case is still being followed up. The unique case may serve as a clue to the pathogenesis of the relationship between recurrent infantile digital fibromatosis and HPV infection.

Pachydermodactyly: a systematic review.

INTRODUCTION/OBJECTIVES: Pachydermodactyly is a rare, benign fibromatosis located around the proximal interphalangeal joints. It is often misdiagnosed as juvenile idiopathic arthritis and may cause unnecessary treatments and anxiety in patients. The goal of this paper is to describe this condition through all the existing information in the scientific literature. METHOD: A systematic review and a descriptive study have been conducted. A systematic research was performed in PubMed, Embase, Cochrane Library and WOS. RESULTS: Pachydermodactyly was four times more frequent in male subjects and usually started in adolescence. Bilateral presentation was more frequent. History of microtrauma in both hands due to digital manipulation was found in almost half of the patients, many of them showed some neuropsychiatric disorder. In women, the onset happened later, unilateral involvement and family history were more frequent. Swelling of soft tissue without joint implication was found in imaging tests. The progression was usually positive and the treatment included stopping the microtrauma, administrating intralesional corticoids and/or surgery. CONCLUSIONS: Diagnosis can be established in asymptomatic young patients through a congruent physical exam, regular analytic results and imaging tests that simply show swelling of soft tissue-a biopsy is generally not required for diagnosis. As pachydermodactyly's course is asymptomatic and benign, knowledge about this condition is limited, which increases the likelihood of its underdiagnosis-it is important that clinicians know of pachydermodactyly in order to avoid misdiagnosis.

Painful pachydermodactyly in a 39-year-old woman: A case report and review of the literature.

We chronicle the case of a 39-year-old female who presented to the rheumatology clinic with a history of chronic, symmetrical polyarticular pain in her hands. Meticulous diagnostic workup to exclude ubiquitous culprit aetiologies, such as rheumatoid arthritis and psoriatic arthritis, was performed. A detailed clinical examination was performed and, coupled with the radiological imaging findings, divulged an underlying diagnosis of pachydermodactyly. The patient was commenced on etoricoxib to alleviate the pain, and was advised to avoid repetitive trauma to her hands. The present report delineates a unique case of painful pachydermodactyly, affecting both proximal interphalangeal joints as well as distal interphalangeal joints. To the best of our knowledge, this is the first case from the state of Kuwait. We further review the literature in order to better elucidate the varying clinical manifestations of an elusive and rare rheumatological condition.

An Algorithmic Approach to the Management of Infantile Digital Fibromatosis: Review of Literature and a Case Report.

Objective: Infantile digital fibromatosis is a rare benign childhood tumor, infrequently cited in the literature. Hallmarks include nodular growths exclusive to fingers and toes and the presence of eosinophilic cytoplasmic inclusions on histology. This article aims to exemplify diagnoses of infantile digital fibromatosis and possible treatment options. Methods: A computerized English literature search was performed in the PubMed/MEDLINE database using MeSH headings "infantile," "juvenile," "digital," and "fibromatosis." Twenty electronic publications were selected and their clinical and histological data recorded and used to compile a treatment algorithm. Results: A 9-month-old male child was referred for a persistent, symptomatic nodule on the third left toe. A direct excision with Brunner-type incisions was performed under general anesthesia. The procedure was successful without complications. The patient has no recurrence at 2 years postsurgery and continues to be followed. Histological examination revealed a proliferation of bland, uniformly plump spindle cells with elongated nuclei and small central nucleoli without paranuclear inclusions consistent with fibromatosis. Conclusions: Asymptomatic nodules should be observed for spontaneous regression or treated with nonsurgical techniques such as chemotherapeutic or steroid injection. Surgical removal should be reserved for cases with structural or functional compromise.

Pachydermodactyly with Broder Hand Span and Long Fingers: A Case Report.

Pachydermodactyly is a rare and benign disease that may be idiopathic, genetic, acquired as a response to repetitive trauma, or associated with several other acquired conditions often pushing the health caregiver to do a bunch of costly lab tests and diagnostic workups to rule out other entities. All health care givers must be aware about this disease for reassure the patients and cut unnecessary costs. Moreover, there seems to be an issue of association with certain occupations. A good example might be computer keyboards causing special damages to certain organs like eyes and musculoskeletal system. We have observed deleterious effects of excess work with computer keyboards on fingers in the form of Pachydermodactyly in our case. A 27-yr-old man presented with wider hand span and longer fingers to Dermatology Clinic of Rasoul-E-Akram Hospital in June 2015, especially the ring finger in our case, considered a big symptom who depressed due to their fingers appearance as a rare disease. We gave him an emollient to make his hand smoother. The patient improved both clinically and psychologically on a simple emollient. This disease with its deleterious psychological effects and a simple way of management should be appreciated more by the health care system.

Fibromatose digital infantil: relato de caso / Infantile digital fibromatosis: case report

Introdução: A fibromatose digital infantil é uma proliferação nodular, assintomática, rara e benigna do tecido fibroso, que ocorre quase exclusivamente na região dorsal e lateral dos dedos das mãos e pés. O artigo relata um caso de fibromatose digital infantil, também conhecida como tumor de Reye. Relato de Caso: Trata-se de um caso diagnosticado por meio de exames clínico, de imagem e histopatológico. O paciente apresentou-se ao Setor de Ortopedia do Hospital, queixando-se de uma lesão nodular, eritematosa, indolor, no segundo pododáctilo do pé esquerdo, existente havia quatro anos. Durante o exame físico, notava-se uma deformidade no II pododáctilo, causada por uma lesão nodular, eritematosa, indolor, de aproximadamente 1,5 cm, que não acarretava alterações funcionais. O exame de ultrassom revelou a presença de uma imagem nodular sólida, hipoecogênica, envolvendo o tendão do extensor do II pododáctilo na falange média. O diagnóstico inicial era de fibroma ou sinovioma. Pelas características clínicas da lesão, por seu tempo de evolução e pelos achados de imagem, a equipe optou por uma biópsia. No entanto, devido ao pequeno tamanho da lesão, sendo a biópsia aberta, realizou-se a exérese cirúrgica. O exame histopatológico confirmou o diagnóstico de fibromatose digital infantil. Conclusão: Esse tumor constitui uma entidade clínica rara, que deve ser diferenciada de outras lesões encontradas nos dedos das mãos e dos pés. O diagnóstico correto raramente é feito antes da operação, devido, principalmente, à falha em reconhecer essa entidade. Por essa razão, é essencial considerar essa lesão em diagnósticos diferenciais.

Introduction: Infantile digital fibromatosis, also known as Reye tumor, is a rare, asymptomatic, benign nodular proliferation of fibrous tissue, which occurs almost exclusively in the dorsolateral region of the fingers and toes. This article reports a case of infantile digital fibromatosis. Case report: This case was diagnosed by clinical, imaging, and histopathological examination. The patient presented at the rthopedic Department of our hospital, with a 4-year history of a painless, erythematous nodular lesion on the econd toe of the left foot. On physical examination, a deformity of the second toe caused by a nodular, erythematous, painless lesion of approximately 1.5 cm diameter was noted; the lesion did not result in functional changes. Ultrasound examination revealed a solid, hypoechoic nodule involving the extensor tendon in the middle phalanx of the second toe. The initial diagnosis was fibroma or synovioma. Due to the clinical characteristics of the lesion, its evolution, and the imaging findings, the team chose to perform a biopsy. However, due to the small size of the lesion, upon open biopsy, surgical excision was performed. Histopathological examination confirmed the diagnosis of infantile digital fibromatosis. Conclusion: Infantile digital fibromatosis is a rare clinical entity, which should be differentiated from other lesions found in the fingers and toes. The correct diagnosis is rarely made pre-operatively, due mainly to a failure to recognize this entity. For this reason, it is essential to onsider this lesion in the differential diagnosis of digital nodules.

A Case of Infantile Digital Fibromatosis in a 12-Year-Old Child, and This Was Treated with a CO2 Laser / 대한피부과학회지

Infantile digital fibromatosis is a rare benign fibrous tumor that may typically present as a solitary or multiple lesions on the fingers and toes with the histopathological features of fibroblasts with intracytoplasmic inclusion bodies. It commonly presents at the time of birth or it develops within the first year. We reported here on a case of a 12-year-old female with a solitary asymptomatic dome-shaped, firm erythematous nodule on the left 5th finger of 3 years duration. The lesion was histopathological diagnosed as infantile digital fibromatosis. We treated the lesion with a CO2 laser and recurrence was not identified during the 10-month follow-up period.

Two Cases of Infantile Digital Fibromatosis ; Recurred or Regressed Spontaneously / 대한피부과학회지

Infantile digital fibromatoais is a rare benign tumor on fingers and toes of infants and childhood characterized by fibroblaatic proliferation. A 6 months old male infant had a bean sized, flesh nodule on th left 3rd finger. The lesion was noted at 3 days after birth and surgically removed at 7 months old, However, a new lesion developed at the margin of the ald lesion 2 months later. The second patient was a 21 months old female who had two bean sized, flesh nodules on the right 4th snd 5th fingers. The lesion was first noted at 12 months and regressed spontaneously at 30 months without specific interventiona. Histopathological examination of the two cases showed eosinophiric ntracytoplasmic inclusion bodies, charateristic for infantile digital fibromatosis.

A Case of Infantile Digital Fibromatosis Treated with Skin Graft / 대한피부과학회지

Infantile digital fibromatosis is a rare benign tumor on the fingers and toes of infants and childhood which is characterized by fibroblastic proliferation. Usually the lesions occur singly or severally on the dorsal or lateral aspects of the distal phalanges of the toes and fingers. The thumb and great toe are usually spared. These asymptomatic, firm, red, smooth nodules, some lcm diameter, occur during the first year of life. Forty-seven percent occur in the first month of life. This disease can occur after trauma. The lesions do not metastasize. Occasionally, spontaneous regression has been reported. After excision, recurrence can be possible. A 2 years old female infant had three large bean sized erythematous masses on the left 2,3,4th fingers. The erythematous aacule was developed at 6 months old and grew slowly. We could find inclusion body stained bright red with Massons trichrome and purple with PTAH in cytoplasm of fibroblast. The patient was treated with a simple excision followed by a skin graft. During 5 rnonths after operation, recurrence was not occurred.

A Case of Infantile Digital Fibromatosis

We report a case of infantile digital fibromatosis in a 34 month-old boy, who presented with a painless subcutaneous tumor on the medial aspect of the left third toe. A histological examination showed scattered small, round eosinophilic inclusion bodies in the cytoplasm of the tumor cells, which was consistent with infantile digital fibromatosis. A'immunohistochemical study revealed that desmin, a-smooth muscle actin, and vimentin were clearly positive in the cytoplasm of the tumor cells, but the inclusions themselves showed negative staining, thus indicating a hollow-like staining pattern. Electron microscopy showed either well-defined or ill-demarcated dense bodies in the cytoplasm of the tumor cells. In some areas, small vesicles and intracellular organells were observed' in the inclusions. In the course of conservative treatment, a new lesion developed on the lateral aspect of the left third toe, seven months after the appearance of the initial lesion.

A case of Infantile Digital Fibromatosis Locaated on Hypothenar Area Showing Spontaneous Regression

Infantile digital fibromatosis(IDF) is a rare, benign fibrous tumor, first described in 1965 by Reye. IDF may occur single or multiple lesions exclusively on the fingers or toes, rare occurrence outside the digit have been reported. This tumor grow slowly and may adhere to the deeper tissue, and may lead to deformity of the digit, but do not distant metastasis or dissemination. There is a marked tendency for recurrence after surgical excision. Up to now, only 6 cases have been reported in the literature showing spontaneous regression. We experienced a case of infantile digital fibromatosis located on hypothenar area at birth. Also that spontaneous regressed at 13 months of age. We reported a case of IDF showing spontaneous regression with brief review of related literature.