Bulbous Nose Research Articles

Duplication of 5q15‐q23.2: Case report and literature review

Pure partial trisomy of chromosome 5q is rare and cases have ranged over the entire region, making it difficult to describe a good phenotypic correlation to the cytogenetic duplication. We present a 4.5-year-old girl with a de novo direct duplication of chromosome 5q15-q23.2. She has moderate developmental delay with lack of speech, microcephaly, and subtle dysmorphic features including prominent forehead, bulbous nose, epicanthic folds, protruding tongue, and slightly posteriorly-rotated ears. A comparison is made with other similar duplication cases reported in the literature and a general description of a proximal 5q duplication phenotype is given, with lack of speech as the principal feature.

59 A Clinical and Genetic Study of Newborns with Conotruncal Heart Diseases and Del22Q11.2 Syndrome

Background/aims Congenital heart diseases (CHD) occur in 8 per 1000 births. ConoTruncal Heart Defects (CTHD) account for 50% of CHD. 22q11 deletion prevalence is high in patients with CTHD (16%). The most common CTHDs in del22q11 patients are Tetralogy of Fallot (ToF), Pulmonary Atresia + Ventricular Septal Defect (PA+VSD), Aortic Arch Interruption (AAI), Truncus arteriosus (TA).Patients and methods in 1999 a study to determine the prevalence of del22q11 in patients with CTHD, to describe the phenotypic variability and to analyse the familial occurrence of deletion, was designed. The parents of deleted probands were studied too. Caryotype from peripheral blood lymphocytes by fluorescent in situ hybridisation (FISH) using specific probe D22S75 was performed.Results Over a period of 5 years, 135 patients (M: 70, F: 65) with CTHD were enrolled.: 47 (35%) ToF, 39 (29%) Transposition of Great Arteries (TGA), 23 (17%) PA+VSD, 10 (7,5%) Double Outlet Right Ventricle (DORV), 7 (5%) TA, 3 (2%) AAI, 6 (4,4%) other CHDs. 27 (M: 12, F: 15) showed del22q11.2: 14 (30%) ToF, 8 (35%) PA+VSD, 1 (33%) AAI, 1 (14%) TA and 3 other types of CHD. In the familial cases with del22q11.2, we found: An affected father of a child without CTHD, a mother and her daughter with the same CHD, 2 unaffected mothers of affected probands. 26 deleted patients showed dysmorphic facial features (elongated face, micrognatia, hypertelorism, bulbous nose), 1 cleft-palate, 4 velopharyngeal insufficiency, 2 thymic hypo-/aplasia, 2 hypocalcemia, 1 reduced cell CD3+, 9 developmental and speech delay/behavioural problems.Conclusions Del22q11 frequency in patients with CTHD is high (20%) and higher in patients with CTHD and clinical features of del22q11 syndrome. The analysis of del22q11 should not be excluded: In patients with CTHD, including the newborns, and without characteristic fenotype; in parents of deleted children.

Wrinkly skin syndrome

We report a 2‐year‐old girl with wrinkly skin syndrome (WSS). At birth, she was noted to have a large head with a large anterior fontanelle and facial dysmorphism with no raised intracranial pressure (Fig. 1e). At the age of 1 year, she manifested developmental delay with a length of 68 cm (2nd centile), weight 6 kg (< 0.4th centile) and head circumference of 48 cm. By the age of 2 years, she manifested the typical features of the syndrome which included skin wrinkling on the dorsa of the hands, feet and anterior abdominal wall, prominent veins on the chest (Fig. 1a‐‐c), and hyperextensibility of small joints of the hands and feet. She had a triangular senile‐looking face with hypotelorism, a prominent bulbous nose, large protruding ears and brachycephaly (Fig. 1d). At 2 years of age, she has just started to walk and can say a few words. Her parents are of Palestinian origin and are cross first cousins (the proband's maternal grandfather and paternal grandmother are siblings). Electrophysiology and nerve conduction studies revealed prolonged visual evoked potentials and mild left conductive hearing impairment. Chromosome analysis revealed a normal 46XX female karyotype. Magnetic resonance imaging of the brain showed agenesis of the corpus callosum with resulting absence of the cingulate gyrus and sulcus, and a high third ventricle with colpocephaly.

Costello Syndrome Showing Moyamoya-like Vasculopathy

This report describes a patient with Costello syndrome associated with moyamoya-like vasculopathy. His clinical findings were sparse, thin, and light-colored hair, bilateral ptosis, low-set ears, depressed nasal bridge, bulbous nose, short neck, loose pigmented skin with deep palmar and plantar creases, bilateral cryptorchidism, and delays in growth and development. Brain magnetic resonance imaging and cerebral angiography revealed moyamoya-like vasculopathy. A skin biopsy from the extensor surface of the right thigh revealed shortening and rupture of elastic fibers. Electron microscopy indicated reduced depositions of elastin. Formation of a stable elastic fiber system may be impaired in patients with Costello syndrome, and brain magnetic resonance imaging and magnetic resonance angiography would be recommended for these patients.

Ultrasonography for Rhinoplasty

Objective: To get the desired outcome and minimize the complications in rhinoplasty it is essential that the anatomy of the nose be precisely known and an appropriate surgical technique should be chosen for the existing problem in a given patient. Preoperative assessment in rhinoplasty is usually based on a physical examination and photographs of the patient. To date, there has been no objective diagnostic test for nose anomalies such as bulbous nasal tip. Methods: In this study we measured the interdomal distance and size of the interdomal fat pad using USG in a total of 40 rhinoplasty patients. Open rhinoplasty was performed in all patients. Also, interdomal fat pad was dissected and excised in all patients. The size of the specimens was determined and their histopathological diagnoses were made. All the cases were evaluated in the 6th month after the operations. Reviewing of the literature was performed. Results: Before the operation, six patients had been diagnosed as bulbous nasal tip clinically. In the patients with bulbous nose both interdomal distance and interdomal fat pad proportions were found to be larger than normal. In the cases in“ which tip refinement had been performed the interdomal distance was measured as zero. Conclusions: Joseph in 1931 used the ”profilometer; Webster et al. in 1977 used the projectometer in the evaluation of the nose. The evaluation of the anatomical structure of the nose has been the topic of many anthropometric studies and advanced and highly detailed studies with 3 dimensional facial plaster models; digitizer or laser surface scanners have appeared the literature. Tasman and Helbig used the ultrasonography in the evaluation of the nasal tip area. Evaluation of the interdomal space by using USG is quite simple, cheap and easily applicable. In addition, interdomal fat pad can be visualized and an objective criterion can be obtained for bulbous nose by measuring the interdomal distance on USG. Since the excision of interdomal fat pad could only be achieved by open rhinoplasty, and that tip refinement is required in order to correct the increased interdomal distance, pre-operative interdomal USG will guide the surgeon and provide objective criteria in determination of the operative technique in bulbous nose. This is the first study to show interdomal fat pad by a diagnostic test and it can be concluded that interdomal fat pad excision is necessary for the prevention of supratip.

The interdomal fat pad of the nose: a new anatomical structure.

The nose is one of the most operated organs in the body and its anatomy has been well defined by plastic and ENT surgeons. Although rhinoplasty is the most commonly performed operation in plastic surgery, some unexpected results and complications may be related to unknown or unclarified anatomical structures in the nose. We aimed to evaluate the interdomal region in four fresh cadavers and 24 patients who underwent open rhinoplasty, since the nasal tip area is the most difficult part of the rhinoplasty. Detailed cartilage and soft tissue interactions were studied in fresh cadavers. The existence of the interdomal fat pad as a separate anatomical structure was proven in necropsy specimens from cadavers using various histochemical dyes. Nasal tip ultrasonography was performed preoperatively in patients who underwent rhinoplasty. All patients had a fat pad in the interdomal space, of varying sizes, but fatty (bulbous) noses had larger fat pads. Interdomal fat pad tissue, which occupies the interdomal space, was demonstrated by ultrasonography. The size of the fat pads varied from 1.2 mm x 2.4 mm to 3.6 mm x 5.2 mm. Anatomical observation and biopsies were performed during surgery. Finally, surgical and radiological anatomy of the interdomal fat pad was demonstrated in all cadavers and patients. We speculate that the interdomal fat pad is an important anatomical structure and may contribute to unexpected postoperative results in rhinoplasty. This newly defined fat pad can be assessed by ultrasonography, a safe and inexpensive technique. The surgical approach to the interdomal fat pad is solely through open rhinoplasty technique. Thus, a consideration of the interdomal fat pad and detection of its size preoperatively may play a key role in choice of technique and success of rhinoplasty.

The new anatomical viewpoint of the nose: the interdomal fat pad.

To the plastic surgeon, the nose is one of the most interesting and challenging facial structures and its anatomy is well defined. From the point of view of aesthetic surgery, the nasal tip area is an especially important structural unit, and the most difficult to address in rhinoplasty. The objective of this study was to demonstrate the existence of the nasal interdomal fat pad as a distinct anatomical structure that occupies the interdomal space and is apart from subcutaneous fat. In our study we proved the existence of the interdomal fat pad by histochemical studies and anatomical observations in 88 patients who underwent primary external rhinoplasty and three fresh cadavers. All specimens were examined by hemotoxylen-eosin, Sudan black, and oil red staining, as well as S100 protein immunoreactivity staining. The mass of the interdomal fat pad was greater in patients with bulbous noses and/or divergent alar cartilage than in patients with thin skin. We speculated that the interdomal fat pad may be the major anatomic structure contributing to unexpected results in difficult cases, such as those involving bulbous noses. According to our study, the existence of the interdomal fat pad should be kept in mind during the preoperative planning of rhinoplasty.

An Ace-in-the-Hole

FEATURED AUTHOR—FICTION An Ace-in-the-Hole James B. Goode SAM WILSON WAS NO ORDINARY MAN in the community of Beartrack. He struck an unusual pose as he drove his metallic green 1951 Dodge along the twisting mountain roads—always dressed in a black suit, always wearing his short-brim, black Stetson hat, and always with an unlit King Edward cigar clenched between his yellowing teeth. He nodded toward everyone he passed, whether he knew them or not. Politics required that he be more safe than sorry. He would throw his right hand up above the metal dashboard in a quick, jerking motion. Those who passed could see his broad, weathered, road map face dominated by a pale, bulbous nose magnified by the split windshield of the Dodge. Today he was headed to the Knob County courthouse to meet with the district magistrates, a once-a-week habit he had fallen into when he first was elected county judge twelve years and three terms ago. He parked the Dodge behind the courthouse in a narrow spot marked with a menacing sign which said in big, bold red letters: "RESERVED FOR THE COUNTYJUDGE: VIOLATORS WILL BE SHOT!" He smiled as he read the sign. Baldy, his deputy, had put the sign up after the jailer had allowed the family of a prisoner to park in the Judge's spot. Sam walked up the cut stone steps leading to the side entrance of the courthouse, opened the big mahogany door, walked down the tiled floor and straight into the reception area of his office at the back of the rotunda. Nona, his secretary, sat at the big oak desk blowing on her freshly painted fingernails. She kept on blowing as she greeted Sam. "Good morning, Judge Wilson!" she said. "Franklin Marsh is in your office. One of his dump trucks has broke down, and he wants you to call C. W. in District 5 and see if he can borrow one for the day." She turned the back of her hand an arm's length away from her face and surveyed the bright red polish. "C. W.'s probably already left for the meeting this morning," Sam said. "Call Eldon, C W.'s driver, at the District 5 office and tell him to bring a ten-ton dump truck over to Four-Mile to meet C. W.'s bridge man at Saylor's grocery." Sam shuffled through the mail Nona had placed in the wire basket on the edge of her desk. 6 "Some guy called from District 1 and wanted to be put on the list to get some gravel dumped on his driveway." Nona playfully winked at the judge. "Doggone-it, Nona! What did you tell him? When will these people learn that there is no dad-blamed list. The only dad-blamed list, if there is a dad-blamed list, is in my dad-blamed head!" He slammed his Stetson onto the brass hook on the wall beside his office door and disappeared inside. Nona rolled her eyes to the ceiling. She could hear the low din of Sam's voice as he talked to Franklin Marsh. She couldn't really tell what they were saying, but every so often the words would get louder as one or the other made some exclamation. They hadn't been inside the office long when the phone call came. Nona knocked lightly and stuck her head around the door. "Sam, Slade Pugh's on the phone ... ," she said. She promptly turned and closed the door softly. Sam lifted the black earpiece from the telephone cradle and scooted his chair closer to the desk so he could speak into the mouthpiece mounted on the stand. "Slade Pugh!" He talked loudly into the receiver. "What can I do you for?" He asked. "Sam? Sam ... this is Slade ... they found my mama dead this mornin' ... a lyin' down there in the kitchen of the home place on Watts' Creek. Said she died of a heart attack sometime yesterday." "I swan ... well I swan ..." was all Sam could manage. He took a deep breath and let it out like steam escaping from a pipe. "Fronnie...

Recurrent Transitional Cell Carcinoma in a Child With the Costello Syndrome

Bladder epithelial tumors are uncommon in children. The Costello syndrome is a rare disorder that involves multiple congenital abnormalities, and affected patients may be at increased risk for tumor development. We report recurrent and multiple transitional cell carcinomas of the bladder in a girl with the Costello syndrome. To our knowledge this case represents the third report of transitional cell carcinoma associated with the Costello syndrome. CASE REPORT A 13-year-old girl was referred for routine clinical investigation of recurrent bladder tumor. The patient had previously undergone transurethral resection of transitional cell papillomas of the bladder at our clinic at ages 10 and 12 years. At birth she had sparse and curly hair, macrocephaly, a coarse facial appearance (large mouth with thick lips, low set ears, depressed nasal bridge, bulbous nose with anteverted nostrils, and palpebral ptosis and hypertelorism), and loose skin of the hands and feet. In addition, she had postnatal growth and psychomotor retardation, and an abnormal intraventricular septum and mild hypertrophic cardiomyopathy were noted in the neonatal period. However, results of standard chromosomal analysis were normal. Based on the facial features, clinical course, striking excess palmar skin and other abnormalities, she was diagnosed with the Costello syndrome at age 12 years by a pediatrician (fig. 1). On physical examination development was noted to be significantly delayed. At that time IQ was estimated to be about 60. However, she had no apparent urogenital defects or abnormalities. Results of urinalysis were normal and urine culture was sterile. Urine cytology was negative, but a rice grain sized mass in the bladder was observed on transabdominal ultrasonography. Excretory urography showed no abnormalities in the urinary tract and no urolithiasis. On subsequent cystoscopic examination a papillary pedunculated tumor 2 mm. in diameter was observed on the bladder dome (fig. 2). The mass was resected by transurethral endoscopy, and histological analysis revealed grade 1 papillary transitional cell carcinoma. At age 14 years the patient was found to have recurrent papillary masses on the bladder dome. These tumors were also resected, and histological findings once again were interpreted as grade 1 papillary transitional cell carcinoma. DISCUSSION

Excision of Rhinophyma With High-Frequency Electrosurgery

BACKGROUND Rhinophyma is an uncommon progressive disfiguring process of the lower nasal region that most commonly affects middle-aged white men. It is characterized by painless hyperplasia of the sebaceous and subcutaneous tissues, in the end stage, resulting in a bulbous nodular telangiectatic nose. Surgical modalities of treatment include electrosurgery, laser ablation, dermabrasion, cryosurgery, scalpel excision, and others. OBJECTIVE We present two patients with rhinophyma who were treated with the Ellman Surgitron using high-frequency current. METHODS Two patients with significant rhinophyma and associated subcutaneous abscesses underwent excision with the Ellman Surgitron using high-frequency electrosurgery with a wire loop. The sebaceous hypertrophy was shaved down to the level of the normal skin surface. RESULTS This technique provided a quick, efficient, bloodless operative field with a good cosmetic result and pain-free postoperative recovery. Photographs were taken at regular intervals to document the healing process. CONCLUSION The Ellman Surgitron uses high-frequency current to achieve a bloodless field in the treatment of rhinophyma. This enabled efficient and quick removal of hypertrophied tissue with a good cosmetic result and an essentially pain-free recovery. This radiofrequency device is well suited for the outpatient setting and offers advantages over the other modalities used to treat rhinophyma.

Novel X-linked mental retardation syndrome with short stature maps to Xq24.

We describe a large family from Sardinia, Italy, in which a novel X- linked mental retardation (XLMR) syndrome segregates. The phenotype observed in the 8 affected males includes severe mental retardation (MR), lack of speech, coarse face, distinctive skeletal features with short stature, brachydactyly of fingers and toes, small downslanting palpebral fissures, large bulbous nose, hypoplastic ear lobe and macrostomia. Carrier females are not mentally retarded, although some of them have mild dysmorphic features such as minor ear lobe abnormalities, as well as language and learning problems. Linkage analysis for X-chromosome markers resulted in a maximum lod score of 3.61 with marker DXS1001 in Xq24. Recombination observed with flanking markers identified a region of 16 cM for further study. None of the other XLMR syndromes known to map in the same region shows the same composite phenotype. This evidence strongly suggests that the genetic disease in this family is unique.

Management of the Bulbous Nose

"Bulbous nose" is a term patients often use to describe a "ball" on the end of their nose. This ball can be caused by the abnormal anatomy of alar cartilage or by the overlying soft-tissue coverage. The purpose of this article is to analyze the different causes of bulbous noses and their treatment options. An analysis was done based on four decades of experience and long-term follow-up. We included 10 patients for our discussion. The relationship of the tip to the vault must be analyzed, because it can create optical illusions. For instance, a low bridge makes the tip appear larger; therefore, a bulbous nose may be relative. Similarly, excessive narrowing of the nasal base by alar wedges makes the tip appear wider. Intrinsic causes of a bulbous nose include skin, subcutaneous tissue (including the nasal superficial musculoaponeurotic system, ligaments, and fat), and the shape and direction of the individual crus. Nasal skin varies as to volume and ability to contract; therefore, the shape, direction, or divergence of the individual crura cannot undergo unlimited modifications. There are several surgical possibilities for a given problem. Making the diagnosis of the underlying abnormal anatomy is the most important step; then the most appropriate operation can be selected. Struts, sutures, resection, dome division, and/or dorsal augmentation are all viable options for the management of the bulbous nose.

Management of the Bulbous Nose

"Bulbous nose" is a term patients often use to describe a "ball" on the end of their nose. This ball can be caused by the abnormal anatomy of alar cartilage or by the overlying soft-tissue coverage. The purpose of this article is to analyze the different causes of bulbous noses and their treatment options. An analysis was done based on four decades of experience and long-term follow-up. We included 10 patients for our discussion. The relationship of the tip to the vault must be analyzed, because it can create optical illusions. For instance, a low bridge makes the tip appear larger; therefore, a bulbous nose may be relative. Similarly, excessive narrowing of the nasal base by alar wedges makes the tip appear wider. Intrinsic causes of a bulbous nose include skin, subcutaneous tissue (including the nasal superficial musculoaponeurotic system, ligaments, and fat), and the shape and direction of the individual crus. Nasal skin varies as to volume and ability to contract; therefore, the shape, direction, or divergence of the individual crura cannot undergo unlimited modifications. There are several surgical possibilities for a given problem. Making the diagnosis of the underlying abnormal anatomy is the most important step; then the most appropriate operation can be selected. Struts, sutures, resection, dome division, and/or dorsal augmentation are all viable options for the management of the bulbous nose.

Management of the Bulbous Nose

Management of the Bulbous Nose

Management of the Bulbous Nose by Peter McKinney, M.D., C.M.

Management of the Bulbous Nose by Peter McKinney, M.D., C.M.

A Unique Form of Mental Retardation with a Distinctive Phenotype Maps to Xq26-q27

We report a novel X-linked mental retardation (XLMR) syndrome, with characteristic facial dysmorphic features, segregating in a large North Carolina family. Only males are affected, over four generations. Clinical findings in the seven living affected males include a moderate degree of mental retardation (MR), coarse facies, puffy eyelids, narrow palpebral fissures, prominent supraorbital ridges, a bulbous nose, a prominent lower lip, large ears, obesity, and large testicles. Cephalometric measurements suggest that the affected males have a distinctive craniofacial skeletal structure, when compared with normative measures. Obligate-carrier females are unaffected with MR, but the results of cephalometric skeletal analysis suggest craniofacial dysmorphisms intermediate between affected males and normative control individuals. Unaffected male relatives show no clinical or cephalometric resemblance to affected males. The blood-lymphocyte karyotype and the results of DNA analysis for fragile-X syndrome and of other routine investigations are normal. Linkage analysis for polymorphic DNA markers spanning the X chromosome established linkage to Xq26-q27. Maximum LOD scores were obtained at marker DXS1047 (maximum LOD score = 3.1 at recombination fraction 0). By use of haplotype analysis, we have localized the gene for this condition to an 18-cM genetic interval flanked by ATA59C05 and GATA31E08. On the basis of both the clinical phenotype and the mapping data, we were able to exclude other reported XLMR conditions. Therefore, we believe that a unique recessive XLMR syndrome with a distinctive and recognizable phenotype is represented in this family.

Unbalanced 4;6 translocation and progressive renal disease

Two sibs are described with an unbalanced 4;6 translocation resulting in partial trisomy 6p and monosomy for distal 4p. Growth retardation, psychomotor retardation, and characteristic facial appearance are present. The facial anomalies include high prominent forehead, blepharoptosis, blepharophimosis, high nasal bridge, bulbous nose, long philtrum, small mouth with thin lips, and low-set ears. Both children have small kidneys and have had proteinuria since early childhood. The older boy developed progressive renal disease including hypertension and renal failure necessitating renal transplantation at age 18 years. Renal biopsy of the younger girl also indicates significant renal involvement. Progressive renal disease is likely an important part of the trisomy 6p phenotype.

Inherited multicentric osteolysis with arthritis: a variant resembling Torg syndrome in a Saudi family.

The autosomal recessive multicentric osteolytic disorders of childhood-Torg, Winchester, and François syndromes-predominantly affect the carpal, tarsal, and interphalangeal joints, and their progressive bone loss and crippling arthritic deformities mimic severe juvenile rheumatoid arthritis. In a consanguineous Saudi Arabian family two affected sibs with facial anomalies and short stature displayed a distal arthropathy of the metacarpal, metatarsal, and interphalangeal joints starting in the first few months of life that eventually progressed to the proximal joints and resulted in crippling ankylosis and severe generalized osteopenia. Facial changes included proptosis, a narrow nasal bridge, bulbous nose, and micrognathia. In addition, they had large, painful fibrocollagenous palmar and plantar pads and mild body hirsutism. Affected individuals were of normal intelligence and had normal renal function. Routine hematologic, chemistry, and rheumatoid studies were within normal limits. Histologic examination of bone marrow and an interphalangeal joint biopsy were not informative. The autosomal recessive inheritance, clinical, and radiologic characteristics of the affected sibs suggested that they had a form of multicentric osteolysis most closely resembling the Torg syndrome, but with a unique facial appearance, fibrocollagenous pads, and body hirsutism not noted in the original description of the syndrome.

Syndrome of gingival hypertrophy, hirsutism, mental retardation and brachymetacarpia in two sisters: Specific entity or variant of a described condition?

Two sisters born to consanguineous Lebanese parents had mental retardation and epilepsy, brachymetacarpalia, hirsutism, bulbous soft nose, thick floppy ears with abnormal configuration and gingival hypertrophy. One girl presented additionally with tetralogy of Fallot and the other with congenital hypothyroidism and bilateral ureteral stenosis. These manifestations resemble the syndrome of hypertrichosis-gingival fibromatosis-mental retardation and seizures of Anavi et al. [1989: Dev Med Child Neurol 31:538-542] but our two girls additionally have brachymetacarpia. The inheritance seems to be autosomal recessive. These two sisters may represent a hitherto undescribed syndrome. We discuss the findings in our patients in relation to the literature.

Aesthetic and Plastic Surgery for Trichorhinophalangeal Syndrome

Trichorhinophalangeal syndrome is an autosomal dominant disorder characterized by a number of clinical features including short stature, sparse scalp hair, a pear-shaped bulbous nose, upper lip deformity, protruding ears, mandibular hypoplasia, and cone-shaped epiphyses of the phalanges. The syndrome has three subgroups: types I, II, and III. Although a few authors have pointed out the importance of aesthetic and plastic surgery in this syndrome, it has attracted relatively little attention. This review of the literature indicates that many patients have had various surgical corrections for associated abnormalities, including otoplasty and rhinoplasty. Unlike aesthetic or plastic corrections in other well-known congenital disorders, most corrections in trichorhinophalangeal syndrome have been performed prior to a diagnosis of the syndrome. Accurate identification of this syndrome is important to provide appropriate aesthetic treatments. Careful evaluation of patients is required when they present for surgery or aesthetic counseling, because they may have a variety of occult associations such as recurrent respiratory tract infections and urogenital anomalies.