Infantile digital fibromatosis is a rare benign fibro/myofibroblastic proliferation that almost only occurs on the fingers and toes. It is characterized by bright, round, intracytoplasmic, eosinophilic inclusions. We present a case of infantile digital fibromatosis in a 6-years-old child.

Juvenile hyaline fibromatosis is a recessive autosomal hereditary disorder characterized by abnormal growth of hyalinized fibrous tissue. Its clinical presentation is marked by tumors of the skin, bone lesions, joint contractures, and gingival hyperplasia. We report a localized form of juvenile hyaline fibromatosis, a rare disease with several cases reported in the worldwide literature. A 23-year-old man presented with multiple tumors, joint contractures, and osteolytic bone lesions, but without gingival hyperplasia in one year of follow-up. Although, the onset of this condition is commonly in early childhood with progression, his unusual clinical presentation began at eight years of age with late progression in adolescence.

Knuckle pads are benign painless papules and nodules that most commonly appear on the extensor surfaces of the proximal interphalangeal joints. Knuckle pads are frequently misdiagnosed due to their location overlying joints, which can lead to costly interventions and patient discomfort for a relatively harmless condition. We describe a 44-year-old woman who presented with mildly painful nodules on multiple bilateral proximal interphalangeal joints. The patient did not have a family history of fibromatosis and the rheumatoid factor was negative. Histology showed mild epidermal hyperkeratosis, papillomatosis, and acanthosis with a deep dermal, poorly circumscribed, proliferative nodule made of spindled myofibroblasts without cytological atypia. The diagnosis of knuckle pads was established based on the clinical and morphological presentation of the nodules. Treatment with intralesional triamcinolone acetonide injection produced significant clinical improvement. Our findings highlight the challenging diagnosis of knuckle pads and the importance of increasing the familiarity of knuckle pads in modern medical practice.

Dupuytren's disease (palmar fibromatosis) involves nodules in fascia of the hand that leads to flexion contractures. Ledderhose disease (plantar fibromatosis) is similar with nodules of the foot. While clinical aspects are well-described, genetic mechanisms are unknown. We report a family with cardiac disease due to a heterozygous LMNA mutation (c.736C>T, p.Gln246Stop) with palmar/plantar fibromatosis and investigate the hypothesis that a second rare DNA variant increases the risk for fibrotic disease in LMNA mutation carriers. The proband and six family members were evaluated for the cardiac and hand/feet phenotypes and tested for the LMNA mutation. Fibroblast RNA studies revealed monoallelic expression of the normal LMNA allele and reduced lamin A/C mRNAs consistent with LMNA haploinsufficiency. A novel, heterozygous missense variant (c.230T>C, p.Val77Ala) in the Asteroid Homolog 1 (ASTE1) gene was identified as a potential risk factor in fibrotic disease using exome sequencing and family studies of five family members: four LMNA mutation carriers with fibromatosis and one individual without the LMNA mutation and no fibromatosis. With a possible role in epidermal growth factor receptor signaling, ASTE1 may contribute to the increased risk for palmar/plantar fibromatosis in patients with Lamin A/C haploinsufficiency.

A case has been presented of a 14-year-old male patient who developed a fusiform mass on the volar aspect of his left forearm following two fractures. Microscopic features and plain radiography, CT, and MRI appearance of juxtacortical aggressive fibromatosis are discussed.

A boy presented initially to a Rheumatology clinic with a three year history of asymptomatic swelling of the third to fourth proximal interphalangeal (PIP) joints bilaterally. A presumptive diagnosis of seronegative arthritis was made. Sulfasalazine was commenced without improvement and resulted in mood disturbance. Blood tests including ESR, lupus anticoagulant, rheumatoid factor and CCP antibodies were unremarkable. Hand radiographs were normal. MRI showed oedema within soft tissues around PIP joints. His care was transferred to the Rheumatology unit in our hospital and the rheumatological diagnosis was revised; sulfasalazine was stopped and skin biopsy organised. Onward referral to Dermatology was made. Examination revealed symmetrical swelling and thickening of soft tissues on PIP joints with no evidence of joint synovitis. He denied habitual behaviour but was noted to rub his fingers subconsciously. With this as a cause of repetitive minor trauma, a clinical diagnosis of pachydermodactyly was made. Skin biopsy was supportive showing a dermis with coarse collagen. Pachydermodactyly is rare. This case highlights the importance of prompt recognition to avoid invasive and excessive diagnostic procedures as well as unnecessary immunosuppression.

Introduction

A giant abdominal tumor with a large hiatal hernia remains a rare disease with few studies regarding its implications in anesthesia. A large hiatal hernia may compress the heart and cause arrhythmia and even cardiac arrest, which greatly increases the risks and challenges of anesthesia management.

Case description

We present a case in which a patient with a giant abdominal desmoid tumor and large hiatal hernia experienced a critical situation during anesthesia and surgery.

Conclusions

It is a great challenge for anesthesiologists to manage a patient's respiratory system and circulation. Careful perioperative management and optimized multidisciplinary teams are the key factors in the successful management of this rare condition. In addition, awake endotracheal intubation, ventilation preserving spontaneous breathing and target-directed fluid therapy play an essential role in anesthesia management.

Although the majority of low-grade, early-stage endometrial cancer patients have good survival with surgery alone, patients who recur tend to do poorly. Identification of patients at high risk of recurrence who would benefit from adjuvant treatment or more extensive surgical staging would help optimize individualized care of endometrial cancer patients. CTNNB1 (encodes β-catenin) mutations identify a subset of low-grade, early-stage endometrial cancer patients at high risk of recurrence. Mutation of CTNNB1 exon 3 is classically associated with translocation of the β-catenin protein from the membrane to the nucleus and activation of Wnt/β-catenin signaling. Given the clinical utility of identifying endometrial carcinomas with CTNNB1 mutation, the purpose of this study was to determine if immunohistochemistry could act as a surrogate for CTNNB1 gene sequencing. Next-generation sequencing was performed on 345 endometrial carcinomas. Immunohistochemical localization of β-catenin was determined for 53/63 CTNNB1 exon 3 mutant tumors for which tissue was available and a subset of wild-type tumors. Nuclear localization of β-catenin had 100% specificity in distinguishing CTNNB1 mutant from wild type, but sensitivity was lower (84.9%). Nearly half of CTNNB1 mutant cases had only 5-10% of tumor cells with β-catenin nuclear localization. The concordance between pathologists blinded to mutation status in assessing nuclear localization was 100%. The extent of β-catenin nuclear localization was not associated with specific CTNNB1 gene mutation, tumor grade, presence of non-endometrioid component, or specific concurrent gene mutations in the tumor. For comparison, nuclear localization of β-catenin was more diffuse in desmoid fibromatosis, a tumor also associated with CTNNB1 mutation. Thus, nuclear localization of β-catenin assessed by immunohistochemistry does not detect all endometrial cancers with CTNNB1 gene mutation. The extent of nuclear localization may be tumor type dependent. For endometrial cancer, immunohistochemistry could be an initial screen, with CTNNB1 sequencing employed when nuclear localization of β-catenin is absent.

Although the majority of low-grade, early-stage endometrial cancer patients have good survival with surgery alone, patients who recur tend to do poorly. Identification of patients at high risk of recurrence who would benefit from adjuvant treatment or more extensive surgical staging would help optimize individualized care of endometrial cancer patients. CTNNB1 (encodes β-catenin) mutations identify a subset of low-grade, early-stage endometrial cancer patients at high risk of recurrence. Mutation of CTNNB1 exon 3 is classically associated with translocation of the β-catenin protein from the membrane to the nucleus and activation of Wnt/β-catenin signaling. Given the clinical utility of identifying endometrial carcinomas with CTNNB1 mutation, the purpose of this study was to determine if immunohistochemistry could act as a surrogate for CTNNB1 gene sequencing. Next-generation sequencing was performed on 345 endometrial carcinomas. Immunohistochemical localization of β-catenin was determined for 53/63 CTNNB1 exon 3 mutant tumors for which tissue was available and a subset of wild-type tumors. Nuclear localization of β-catenin had 100% specificity in distinguishing CTNNB1 mutant from wild type, but sensitivity was lower (84.9%). Nearly half of CTNNB1 mutant cases had only 5-10% of tumor cells with β-catenin nuclear localization. The concordance between pathologists blinded to mutation status in assessing nuclear localization was 100%. The extent of β-catenin nuclear localization was not associated with specific CTNNB1 gene mutation, tumor grade, presence of non-endometrioid component, or specific concurrent gene mutations in the tumor. For comparison, nuclear localization of β-catenin was more diffuse in desmoid fibromatosis, a tumor also associated with CTNNB1 mutation. Thus, nuclear localization of β-catenin assessed by immunohistochemistry does not detect all endometrial cancers with CTNNB1 gene mutation. The extent of nuclear localization may be tumor type dependent. For endometrial cancer, immunohistochemistry could be an initial screen, with CTNNB1 sequencing employed when nuclear localization of β-catenin is absent.