Rubinstein-Taybi syndrome in a Saudi boy with distinct features and variants in both the CREBBP and EP300 genes: a case report.

BACKGROUND: Rubinstein-Taybi syndrome (RSTS) Type 1 (OMIM 180849) is characterized by three main features: intellectual disability; broad and frequently angulated thumbs and halluces; and characteristic facial dysmorphism. CASE PRESENTATION: We report on a Saudi boy with RSTS Type 1 and the following distinct features: a midline notch of the upper lip, a bifid tip of the tongue, a midline groove of the lower lip, plump fingers with broad / flat fingertips, and brachydactyly. The child was found to be heterozygous in the CREBBP gene for a sequence variant designated c.4963del, which is predicted to result in premature protein termination p.Leu1655Cysfs*89. The child and his father were also found to be heterozygous in the EP300 gene for a sequence variant designated c.586A > G, which is predicted to result in the amino-acid substitution p.Ile196Val. CONCLUSION: Our report expands the clinical spectrum of RSTS to include several distinct facial and limb features. The variant of the CREBBP gene is known to be causative of RSTS Type 1. The variant in the EP300 gene is benign since the father carried the same variant and exhibited no abnormalities. However, functional studies are required to investigate if this benign EP300 variant influences the phenotype in the presence of disease-causing CREBBP gene mutations.

Distal Phalanx Intraosseous Epidermoid Cyst.

An intraosseous epidermal cyst is a benign cystic lesion that occurs in the bones. It is assumed to be caused by congenital causes or trauma, and because the cyst forms in the soft tissue surrounding the bone, it can lead to bone loss. Intraosseous epidermal cysts have a well-defined radiolucent lesion with cortical extension on radiography. Due to clinical and radiological signs being similar, it is vital to distinguish an intraosseous epidermal cyst from other diseases that develop at the distal phalanx. A rare example of intraosseous epidermal cysts at the distal phalanx is reported. We describe the clinical, radiological, and pathologic aspect of this lesion, as well as our current therapeutic strategy.

Leiomyoma of the Thumb Mimicking a Ganglion: A Case Report.

Our case report describes the presence of a leiomyoma in the left-hand thumb of a 69-year-old woman, an extremely uncommon location for such a tumor. Leiomyomas are typically benign tumors that arise from smooth muscle, but their occurrence in the hand is unusual. While leiomyomas are more commonly found in the uterus, they may occasionally develop in the extremities, though this is more frequently observed in the lower limbs. These tumors typically present in patients in their third to fourth decades of life, and they are often not diagnosed until surgery because histological pathology is necessary to confirm the diagnosis.

Tibialis Anterior Muscle Hernia in a Young Woman.

Muscle herniation is defined as a myofascial defect resulting in protruding of the muscle through the fascia covering it. It can present anywhere in the body, the most common is the lower limbs. Tibialis muscle herniation is considered a rare entity with few reported cases. Here, we present the case of a 24-year-old Saudi female patient who complained of swelling and pain in the anterior aspect of the left leg for three months. She underwent surgical repair of the fascia with a good outcome. This case presentation aims to contribute to the literature on myofascial herniation by specifically addressing tibialis anterior herniation of the leg and emphasizing the importance of considering it a differential diagnosis in similar presentations. This report highlights the excellent surgical outcomes and satisfactory results in patients with muscle herniation.

Effectiveness of the Superiorly Based Pharyngeal Flap in Treating Velopharyngeal Insufficiency.

Velopharyngeal insufficiency (VPI) is a condition characterized by failure of the posterior part of the soft palate to reach the pharyngeal wall and separate the nasopharynx from the oropharynx during speech and swallowing. VPI may persist following cleft palate repair. This study aimed to determine the outcomes of the superiorly based pharyngeal flap to treat VPI post cleft palate repair. Methods: A retrospective cohort study included patients with VPI post cleft palate repair who underwent secondary speech surgery. The criteria were based on clinical symptoms, physical examination, nasometry, and videofluoroscopy/nasoendoscopy findings. Data were analyzed by using SPSS program, version 22.0. A P value less than 0.05 was considered significant. Results: Thirty-five patients were identified. VPI was reduced to 14.3% postoperatively. Before the surgery 25.7% of the patients had severe hypernasality, 68.6% had moderate hypernasality, and 5.7% had mild hypernasality. After the surgery, only 8.6% of the patients still had severe hypernasality, 22.9% had moderate hypernasality, 57.1% had mild hypernasality, and hypernasality became absent in 11.4%. Articulation disorders were present in 91.4% of patients before surgery, and decreased to 71.4% postoperatively. Speech intelligibility improved postoperatively in comparison with preoperative findings. Conclusion: The present study concluded that the superiorly based pharyngeal flap was successful in treating VPI that persisted post cleft palate repair.

A Rare Case of Painful Hand Swelling.

Many conditions are known to cause chronic wrist pain, one of which is accessory muscles which can be easily overlooked as the cause of pain. Here we present a case of chronic wrist pain in a 33-year-old male who presented with painful dorsal unilateral right-hand swelling associated with increased activity. This patient was referred to the radiology department and was found to have an accessory muscle along the dorsal aspect of the wrist consistent with the extensor digitorum brevis manus muscle. The report includes the clinical presentation, radiologic findings, and management.

Simultaneous Central Slip and Volar Plate Injuries at PIP Joint: A Novel Therapeutic Approach.

BACKGROUND: Central slip and volar plate injuries rarely occur in the same finger, with only two cases previously reported in published literature. In these two patients, both teenagers, two highly distinct protocols were used. Here, we report a third case involving a 51-year-old gentleman who closed a door on his left third finger. METHODS: Because the fractures were noncomminuted and only minimally displaced, he was treated nonsurgically using a multi-step process of splinting to prevent impairment of either proximal interphalangeal joint extension or flexion, combined with active range of motion exercises. This included five weeks of splinting in neutral, 24-hour daily use of a proximal interphalangeal dorsal block, followed by active range of motion exercises combined with nocturnal splinting using a PIP volar block over the next 7 weeks, with relative motion and Joint Jack splints added over the final 4 of these 7 weeks. RESULTS: Twelve weeks after initial splinting, the patient's finger was pain free, with swelling largely resolved, normal extension (-10 degrees) and near-normal flexion (95 degrees) achieved, and full function restored. The patient was very satisfied with the result. CONCLUSIONS: Ours is just the third case of concomitant central slip and volar plate injuries reported in the literature. Other surgeons are strongly encouraged to publish similar cases, approaches, and results, as clinical wisdom can sometimes be gleaned from even a small number of well-documented clinical cases.

Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein-Taybi Syndrome Phenotype: A Case Report of a Saudi Boy.

The classic Rubinstein-Taybi syndrome Type 1 (RSTS1, OMIM 180849) is caused by heterozygous mutations or deletions of the CREBBP gene. Herein, we describe the case of a Saudi boy with chromosome 16p13.3 contiguous gene deletion syndrome (OMIM 610543) including the SLX4, DNASE1, TRAP1, and CREBBP genes, but presenting with a relatively mild RSTS1 syndrome phenotype. Compared with previously reported cases with severe phenotypes associated with 16p13.3 contiguous gene deletions, our patient had partial deletion of the CREBBP gene (with a preserved 5' region), which might explain his relatively mild phenotype.

Skin burns in Saudi Arabia: causes, management, outcomes and quality of life after skin burns.

BACKGROUND: Burn is one of the major global health problem causing trauma and stress. A burn injury can cause functional impairment and psychosocial burdens affecting the quality of life. The purpose of this study was to evaluate the life quality after skin burn and patients' satisfaction on skin grafting outcomes in Saudi Arabia. METHODS: In this cross-sectional community-based survey included 166 participants. Each participant was interviewed using a purposeful questionnaire. RESULTS: The highest incidence of skin burn cases were recorded among female participants (n=133) compared to males (n=33). The highest cause of burn injury was scald (46.4%) and the highest injured parts were hands across all age groups (n=89). Multiple logistic regression models for different parts of skin burn patients showed highly significant values for hands (p < 0.001), CI, 0.181 (0.103-0.259). The maximum injury took place at home (88%). The majority of burns were scald and flame injuries (46.4% and 36.1%). Majority of patients had burns of 0-10% TBSA which is about 62.0% (p < 0.002, R 2=0.289). The mean DLQI scores ranged from < 1 to 27. CONCLUSION: Skin burns are common in Saudi Arabia and more prevalent among females. Most skin burns occur at home and the most causative agent is hot water predominantly affecting hands. The majority of burns are treated using topical creams, and only some of them undergo skin grafting. There is a relatively higher degree of acceptance of skin burns treatment outcomes among the Saudi population.

Interleukin-8 Activates Breast Cancer-Associated Adipocytes and Promotes Their Angiogenesis- and Tumorigenesis-Promoting Effects.

Increasing evidence supports the critical role of active stromal adipocytes in breast cancer development and spread. However, the mediators and the mechanisms of action are still elusive. We show here that cancer-associated adipocytes (CAAs) isolated from 10 invasive breast carcinomas are proinflammatory and exhibit active phenotypes, including higher proliferative, invasive, and migratory capacities compared to their adjacent tumor-counterpart adipocytes (TCAs). Furthermore, all CAAs secreted higher level of interleukin-8 (IL-8), which is critical in mediating the paracrine procarcinogenic effects of these cells. Importantly, ectopic expression of IL-8 in TCA cells activated them and enhanced their procarcinogenic effects both in vitro, in a STAT3-dependent manner, and in vivo In contrast, inhibition of the IL-8 signaling using specific short hairpin RNA, anti-IL-8 antibody, or reparixin suppressed the active features of CAAs, including their non-cell-autonomous tumor-promoting activities both on breast luminal cells and in orthotopic tumor xenografts in mice. IL-8 played also an important role in enhancing the proangiogenic effects of breast adipocytes. These results provide clear indication that IL-8 plays key roles in the activation of breast CAAs and acts as a major mediator for their paracrine protumorigenic effects. Thus, targeting CAAs by inhibiting the IL-8 pathway could have great therapeutic value.

Merkel cell carcinoma of left groin: a case report and literature review.

Merkel cell carcinoma (MCC) is an uncommon highly aggressive skin malignancy with an increased tendency to recur locally, invade regional lymph nodes, and metastasize distally to lung, liver, brain, bone, and skin. The sun-exposed skin of head and neck is the most frequent site of involvement (55%). We report the case of a 63-year-old Caucasian male patient who presented with a recurrent left inguinal mass for the third time after surgical resection with safe margins and no postoperative radio- or chemotherapy. The presented mass was excised, and pathological diagnosis revealed recurrent MCC. The patient underwent postoperative radiation therapy, and 6 months later, he developed a right groin mass which was resected and pathological diagnosis confirmed metastatic MCC. Six months later, patient developed an oropharyngeal mass which was unresectable, and pathological biopsy confirmed metastatic MCC. Patient was offered palliative radio- and chemotherapy. In this paper, we also present a brief literature review on MCC.

Median nerve reconstruction after entrapment in the elbow.

Median nerve entrapment in the elbow is a known but rare complication of pediatric elbow dislocations. It is classified on the anatomical basis of entrapment. Due to a variety of factors, it is often diagnosed late. Because of this, substantial injury occurs to the nerve, requiring some form of restorative surgery in addition to release from the joint. Such nerve injury has been treated in a variety of ways including neurolysis, end-to-end anastomosis and nerve grafting. To date, there has been no conclusive evidence in the literature that one method should be preferred over another. A case of median nerve entrapment that was treated with sural nerve grafting is presented. In a review of the literature, previous treatment of such cases is discussed and compared.

A bilobed groin flap for coverage of traumatic injury to both the volar and dorsal hand surfaces.

BACKGROUND: There are many methods available for coverage of both the volar and dorsal hand surfaces in traumatic injury. All of these surgical procedures allow for ample coverage of the defect, but have the major drawback of needing multiple donor sites. In the present report, a case of a complex crush injury to the hand in which both volar and dorsal surfaces received traumatic injury is presented. A bilobed groin flap pedicled on the superficial circumflex iliac artery was fashioned to cover the entire defect. Like many other described flaps, the bilobed groin flap resulted in a favourable functional and cosmetic result for the patient, but with the unique advantage of requiring a single donor site. METHODS: A bipedicled groin flap was raised from distal to proximal, and the flaps inset onto both the dorsal and volar hand defects. RESULTS: The patient regained adequate function of his hand, and was able to return to work full-time as a manual labourer. CONCLUSION: The bilobed groin flap appears to be a valuable option for covering complex hand injuries involving both the volar and dorsal surfaces of the hand.