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.

Rare presentation of foot postaxial polydactyly.

Polydactyly is a prevalent birth anomaly observed in the foot, and a number of classification systems have been suggested for this condition. Postaxial (fifth or little toe) polydactyly is the most common type. We encountered an exceedingly rare presentation of foot postaxial polydactyly that, to our inspection, had neither been previously classified nor described in published studies. In the present report, we have described an otherwise healthy 2-year-old female who had presented to our clinic with an isolated, extra little toe on her left foot. Foot radiographs revealed the presence of all 5 metatarsals; however, the fifth metatarsal was blocked and did not give rise to the fifth toe. Instead, the fifth (medial normal) and sixth (lateral extra) toes had originated from a single, separate accessory bud from the fourth metatarsal, and the main fourth metatarsal had given rise to the normal fourth toe. The lateral sixth toe was excised, and a periosteal sleeve of the excised extra toe was used for reconstruction of the lateral collateral ligament. We propose that this heretofore unmentioned presentation of postaxial polydactyly be added to the existing systems of classification of pedal polydactyly. A review of the published data pertaining to pedal polydactyly has also been presented.

Why myringoplasties fail? Impact of relevant clinical factors on the surgical outcome; a study from pakistan.

BACKGROUND: Myringoplasty is the reconstruction of the tympanic membrane by grafting. Success varies from 50-100%. A study was conducted to unveil the vital causes for failed myringoplasty with an aim to attenuate graft rejections and augment better outcomes. METHODS: It was descriptive case series in which data was retrospectively collected at a tertiary care hospital (Rawalpindi, Pakistan) from January 2009 to December 2018. First 600 consecutive patients who qualified for inclusion/ exclusion criteria, underwent myringoplasties were followed-up for 6 months. Graft Take/Failure, the main outcome variable, was correlated with relevant independent variables. Data was collected on a structured pro forma, approved by hospital ethical committee. Data was analysed using IBM-SPSS- 21.0. RESULTS: Out of 600, 164 (27.3%) had graft rejection; failure being significantly enhanced by increasing age (p<0.001), larger perforation (p-0.025), co-morbidities (p<0.001), especially diabetics (p=0.040) and Eustachian tube (p-0.016) dysfunction amongst among systemic and ENT diseases respectively, and discharge-free ear (Dry Ear) for <4 weeks (p<0.001); while best graft take was achieved with end-aural surgical technique (p=0.048). Gender (p-0.897) did not caste a significant impact on graft outcome. CONCLUSIONS: The results of various surgical approaches of myringoplasty are equitable. Proper socio-demographic and clinical evaluation can improve graft outcome, and this surgery shall be discouraged in patients with diabetes mellitus and defective Eustachian Tube functions.

Surgical application of the keystone island flap for closure of thoracolumbar myelomeningocele defects - A case report.

INTRODUCTION: Myelomeningocele (MMC) is the most common neural tube defect that can occur due to neural tube's failure to fuse properly during embryonic life. To prevent this, keystone island flap can be used for closure of large MMCs. PRESENTATION OF CASE: A new-born girl born as a product of 36 weeks of gestation had a weight of 3.020 kg and had multiple congenital anomalies including hydrocephalus, thoracolumbar myelomeningocele at the level of (T10-L4) and an atrial septal defect. Preoperative evaluation showed a head circumference of 42 cm (n: mean 34.4 ± 2SD), no lower limbs movements and a thoracolumbar soft tissue defect around 4 × 8 cm with exposed neuronal tissue and prominent thoracic kyphosis, and no obvious urogenital or limbs anomalies. The large thoracolumbar myelomeningocele was treated at KFSHRC with a Keystone Design Perforator Island Flap (KDPIF) to reconstruct the soft tissue defect following the neurosurgical reconstruction. DISCUSSION: The keystone flaps were deemed as viable as all wounds were healed without any complications, such as flap necrosis, dehiscence, leakage of cerebrospinal fluid, or infection. The technique described in the case report offers a simple and effective method of wound closure in situations that would, otherwise, have required complex flap closure. CONCLUSION: This flap can be an effective method for reconstruction of large thoracolumbar MMC defects that might improve outcome and minimize complications. It also ensures good watertight closure with minimal wound tension and breakdown.

Gestational gigantomastia on a Saudi woman: A case report on surgical removal and reconstruction and management of complications, KFSH&RC.

INTRODUCTION: Gestational gigantomastia (GG) is a rare condition manifesting as a fast and excessive growth of the breasts in pregnant women. Its etiology is still unclear, with theories ranging from hormonal imbalances, unregulated immune response, to hypersensitivity. Medical interventions are mainly surgical in nature, though some pharmacological medications are of debatable efficacy. CASE PRESENTATION: A 33-year old Saudi gravida 3 para 2 presents continuous breast enlargement since the start of her pregnancy. She complains of skin ulcerations and discharge which was initially treated conservatively with topical antibiotics. Days after she came back with worsening GG symptoms, and was admitted for bilateral skin sparing mastectomy and reconstruction, and successfully recovered. The patient came back with problems concerning the surgical implant and wound infection. Emergency operation was performed for implant removal and wound treatment. Labor induction was performed by the OB-GYN on her 39 week. The patient opted for autogenous reconstruction by bilateral latissimus dorsi flap months after delivery. After treatment of minor surgical complications, the patient successfully recovered. DISCUSSION: Surgery is one of the most effective interventions for GG. Total mastectomy is preferred due to lesser risk of recurrence in subsequent pregnancies. Reduction mammoplasty offers the breastfeeding option if conducted before the delivery, but poses higher risk of recurrence in future pregnancies. CONCLUSION: The patient's gestational gigantomastia condition was complicated by several ulcerations and infections. Surgery was conducted alongside antibiotic treatment. This report also highlights the importance of follow ups in managing complications.

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.

Management of fractures of metacarpals and phalanges and associated risk factors for delayed healing.

OBJECTIVE: To assess the type of fractures of metacarpal and phalanges of hand and their treatment plan, investigate the risk factors (infection, segmental bone loss, associated soft tissue injuries) for the development of delayed union of the fracture site. METHODS: This descriptive study was conducted at Plastic, Reconstructive and Hand Surgery Unit, Liaquat National Hospital, Karachi. It included 120 patients who attended Accident and Emergency Department with metacarpals and phalanges fractures during August 2005 to January 2006. Severely traumatized patients or patients with amputated hand or digits were excluded. The data was collected through hand injury chart which fulfilled the inclusion criteria. Data was analyzed by SPSS version-10. RESULTS: In 120 patients with 226 fractures of the metacarpals and phalanges male to female ratio was 5:1. Metacarpal fractures were 38.9% and the fracture of the phalanges was 61.1%. Oblique fractures were 47%, transverse 28.3%, comminuted 13.27%, spiral 8.9%, and avulsion fractures were 2.6%. Surgically treated patients were 78.3% while 21.7% were managed conservatively. For fixation of fractures Kirschner wires (K-wire) were used in 89.36% cases, miniplates and lag screw in 4.25% and external fixators in 2.1%. Infection was found in 5 (2.2%) of the total fractures, out of these 2/5 (40%) had developed non union of the fracture site. Bony defect was found in 30 (13.3%) of the total fractures, of these 4/30 (13.3%) developed non union. Associated soft tissue injury was found in 130 (57.5%) and of these 11/130 (8.46%) developed non union. CONCLUSION: Most of the fractures of the metacarpals and phalanges were oblique in configuration, followed by transverse fractures. More then 75% of these fractures where treated surgically. K-wiring was the most commonly performed procedure. Infection, segmental bone loss and associated soft tissue injuries were predisposed to non union in small percentage of cases.

A giant multi-lobed osteochondroma of the phalanx in an adult: A case report.

INTRODUCTION: Solitary osteochondromas of the adult hand are extremely rare. We present a case of a giant multi-lobed osteochondroma of the phalanx in an adult. No similar cases were found in the literature. PRESENTATION OF CASE: A 25-year old male presented with a giant multi-lobed osteochondroma arising from the base of the middle phalanx; causing limitations of motion of the proximal interphalangeal joint (PIPJ). The patient refused complete excision, bone grafting and possible fusion of the PIPJ. Marginal resection resulted in recovery of almost full range of motion. There was no recurrence up to the 8-month follow-up visit. DISCUSSION: The case was compared to previously reported cases of ostechondroma of the hand. The management is discussed along with differentiating large osteochondromas from Nora's lesions in the hand. CONCLUSION: A rare case of a large multi-lobed osteochondroma of the phalanx in an adult is presented and the management is discussed.

Kirschner wire pin tract infection rates between percutaneous and buried wires in treating metacarpal and phalangeal fractures.

OBJECTIVE: To compare pin tract infection rate between percutaneous and buried placement of Kirschner (K-) wiring for hand fractures. STUDY DESIGN: Quasi--experimental study. PLACE AND DURATION: Plastic, Reconstructive, Hand and Burn Surgery Unit, Liaquat National Hospital, Karachi, from September 2005--February 2006. PATIENTS AND METHODS: Patients with fractures of metacarpals and phalanges of hand were selected by non-probability purposive method. Assessment of pin tract infection by clinical examination and pin tract scoring was done by modification of Oppenheim classification. Statistical analysis was done using Chi-square test. RESULTS: Ten out of 55 percutaneous and 2 out of 45 buried wires were infected. The difference in infection rates of two groups was statistically significant at p<0.05. Three percutaneous, but not buried Kirschner wires, had to be removed before 4 weeks because of failure to respond to local wound care and oral antibiotics. CONCLUSION: Percutaneous K- wires had significantly greater infection rate than wires which were buried deep to the skin.

Gender difference in metacarpal descent of fifth metacarpal.

OBJECTIVE: To determine the difference in metacarpal descent of fifth metacarpal between men and women. STUDY DESIGN: Descriptive study. PLACE AND DURATION: The outpatient department of plastic, reconstructive and hand surgery at Liaquat National Hospital, Karachi, from August 2005 to February 2006. PATIENTS AND METHODS: Skyline of the 2nd and 3rd metacarpals were used as reference line, from which the descent of the 5th metacarpal head was measured. The position of 5th metacarpal head was documented as angle X. Metacarpal descent was defined as the difference between angle "X" in relaxed and clenched fist position. The relaxed position was standardized by placing the forearm, wrist and palm on a shaped woodblock such that the wrist would be held in 25 - 30 degree in extension by a triangular spur, supported the 3rd metacarpal only. It was ensured that the movement of 4th and 5th metacarpals were not impaired. Analysis of variance was performed to compare the significance of means between genders at p<0.05 level of significance. RESULTS: Metacarpal descent of the 5th metacarpal of both hands was significantly greater for women, with a mean of 7 degree as compared with a mean of 4 degree for the men. This decrease in angle "X" was significant for the right 5th metacarpal relaxed and fist position and the fist position on the left. In contrast, women showed no significant differences between the various age groups for any of the variables tested. There was no relationship between metacarpal descent and hand dominance. CONCLUSION: Difference in metacarpal descent between men and women is significant and must be kept in mind when hand function is evaluated in both genders to assess the outcome of treatment and rehabilitation.

Type I locking of the metacarpophalangeal joint: A case report.

INTRODUCTION: Type I locking of the metacarpophalangeal joint (MCPJ) is rare and is characterized by loss of extension at the MCPJ with full flexion of all joints of the digit. The condition is usually seen in the index and middle fingers when the normal osseous prominence or degenerative osteophytes of the radial condyle of the metacarpal head catches the accessory collateral ligaments of the MCPJ. PRESENTATION OF CASE: We report on a case of Type I locking of the MCPJ affecting the index finger. The case was unusual because it might have been related to repeated stress while opening caps of specimen bottles in the laboratory. Furthermore, the impingement of the radial condyle of the metacarpal was to the sesamoid bone, and not to the collateral ligaments of the MCPJ. Finally, management was done by excision of the sesamoid bone rather than trimming of the prominence of the radial condyle of the metacarpals head. DISCUSSION: Locking of the metacarpophalangeal joint (MCPJ) should be viewed as two different entities: The "locked MCPJ with further flexion possible" (Type I locking) and the "locked MCPJ with further flexion not possible" (Type II locking). Once the type of MCPJ locking is diagnosed clinically, radiological testing (X-rays, CT scan, MRI) may be done to direct further management to the cause of locking. CONCLUSION: We present an unusual case of Type I locking of the MCPJ affecting the index finger.

Myofibroblastoma: an unusual rapidly growing benign tumour in a male breast.

Myofibroblastoma is an unusual benign tumour of the breast predominantly seen in men in their sixth to seventh decade. The gross appearance is that of a well circumscribed nodule, characteristically small, seldom exceeding 3 cm. We present a case of an unusually large myofibroblastoma, which mimicked a malignant breast tumour. A 40 years old male, known case of tetralogy of Fallot, was operated in infancy in abroad, presented with a rapid enlargement of right breast over 5 - 6 weeks. Examination revealed a firm 10 cm hemispherical lump occupying the whole of the right breast with normal overlying skin. Since core biopsy was inconclusive, a subcutaneous mastectomy was performed to remove the tumour, which weighed 500 gms. Histopathology and immunocytochemistry revealed a mixed classical and collagenised type of myofibroblastoma. The patient is well with no evidence of recurrence.