Congenital fibrosis of the extraocular muscles (CFEOM) is a rare, congenital, non-progressive disorder presenting with partial or total ophthalmoplegia, with variable degrees of ptosis in both eyes. We present the clinical manifestations of congenital fibrosis of the extraocular muscles in two patients. Both patients presented with bilateral ptosis and variable ophthalmoplegia with a chin-up posture. The ocular deviations have been noted since birth. No patient demonstrated a Marcus-Gunn jaw-winking phenomenon. Both patients had a mild refractive error with with-the-rule astigmatism. Deviation for both patients revealed exotropia with varying amounts of hypotropia and limitations in the movement of extraocular muscles. Both patients presented no abnormalities in the pupils. Neuroimaging revealed atrophy of the extraocular muscles. Diagnosis of CFEOM in a resource-poor setting is also challenging due to inaccessible gene testing. Manifestations of CFEOM vary across affected patients. CFEOM proposes challenges to the ophthalmologist with regards to management.
congenital fibrosis ; extraocular muscles ; congenital cranial dysinnervation disorders

Lip canting is associated with facial asymmetry, and is one of the most challenging problems in surgical correction of facial deformities. The author corrected lip canting using bioabsorbable devices during orthognathic surgery. Soft tissue suspension procedures were performed on four patients with facial asymmetry. Lip lines improved for all patients. Over an observation period of five years, no complications were noted, nor did any late relapse develop. Furthermore, as time past, the effect of the Endotine suspension procedure increased probably due to induction of fibrosis on surrounding soft tissues.
Congenital Abnormalities ; Facial Asymmetry ; Fibrosis ; Humans ; Lip* ; Orthognathic Surgery* ; Recurrence

In the past, liquid paraffin had been used to restore the atrophy of body for cosmetic purposes. The injected paraffine had resulted in granulomatous foreign reaction. causing the paraffinoma. Because of the severe complications, currently the therapeutic use of paraffin had generally been abandoned. We examined a 62-year old woman who complained of irregular masses of both upper lids and difficulties of eye opening and ptosis and had undergone injection of foreign material into both lids 30 year ago for the restoration of superior sulcus deformities. We removed the mass and did the levator resection of the upper lids. Histologic findings showed multiple irregular shaped vacuole with peri vacuolar dense fibrotic rim and chronic inflammatory cell infiltration in interstitium. These findings were consistent with paraffinoma. We report our experience of a case of the paraffinoma which showed foreign body granuloma composed of many vacuoles and severe fibrosis.
Atrophy ; Congenital Abnormalities ; Female ; Fibrosis ; Granuloma, Foreign-Body ; Humans ; Middle Aged ; Mineral Oil ; Paraffin ; Vacuoles

The two important factors of the ear reconstruction are the contour of the cartilage framework and the projection of the auricle. A lot of techniques of the ear reconstruction were developed but recently, two staged method is widely used that is composed of the 1st stage operation of grafting 3-D costal cartilage framework and the 2nd stage operation of the auricular elevation using superficial temporal fascia and skin graft. But, as time goes by after the auricular elevation, the obliteration of the auriculocephalic angle is often produced by the scar formation, the contracture of the skin graft, and the tissue fibrosis. To maintain the projection of the auricle, we used the cartilage block and the resorbable plate composed of polylactic acid copolymer. The polylactic acid copolymer keeps the strength more than 1 year and is absorbed as slowly as 4 years. If the scar contracture and the tissue fibrosis would be made within the time that the resorbable plate is keeping the strength, the deformities from the scar contracture could be minimal. We used the resorbable plates in the surgery of the auricular elevation in eight cases of microtia from December, 2002 to June, 2003. The average duration of follow-up is about 6 months. The contour and the projection were kept well and the aesthetic results were excellent.
Cartilage ; Cicatrix ; Congenital Abnormalities ; Contracture ; Ear ; Fascia ; Fibrosis ; Follow-Up Studies ; Skin ; Transplants

It is known that multiple ulcers of the gastric antrum are often accompanied by marked submucosal fibrosis during the healing process, and that this may result in a deformity of the gastric wall. Thus, benign antral ulcers may be misinterpreted as intramural tumors, or even malignant ulcers when the surrounding edema is pronounced and sharply defined. It is possible for an endoscopic ultrasonography (EUS) to detect which layer has a submucosal tumor (SMT) in the five-layer structures of the digestive tract wall. In the diagnosis of SMT of the upper digestive tract, EUS allows for the visualization of the structures underlying the gastrointestinal wall in a noninvasive manner and has a great advantage over conventional modalities such as endoscopy and X-ray examination. The EUS findings of 2 cases of submucosal tumor-like gastric lesion caused by fibrotic ulcer healing are herein reported with a brief review of relevant literature.
Congenital Abnormalities ; Diagnosis ; Edema ; Endoscopy ; Endosonography ; Fibrosis ; Gastrointestinal Tract ; Pyloric Antrum ; Stomach Ulcer ; Ulcer*

Dupuytren's contracture is a idiopathic hypertrophy of palmar aponeurosis and consequent flexion deformity of distal palms and fingers. This patient is a 58-year-old man who has been suffering from diabetes mllitus since last 20 years. Skin lesion developed from one year ago. Skin lesion is a well defined, yellowish brown, nontender, firm, pea-sized nodule at distal palmar crease proximal to ring finger on both hands. On physical examination, he is within normal limit except skin lesion and flexion deformity on both hands. Skin biopsy on nodule revealed non-specific fibrosis. Literature was briefly reviewed.
Biopsy ; Congenital Abnormalities ; Dupuytren Contracture* ; Fibrosis ; Fingers ; Hand ; Humans ; Hypertrophy ; Middle Aged ; Physical Examination ; Skin

Paget's disease of bone (PDB) is a disorder featuring high-level bone turnover associated with the presence of disorganized and immature bone tissue with excessive levels of fibrosis. The risk of deformity is very high. The etiology of PDB is not well understood, but includes both genetic and environmental factors among which is bone trauma. Hypercalcemia can occur as a complication of PDB in patients who are immobilized and dehydrated. However, to date, no case of severe hypercalcemia with metastatic calcifications in multiple organs has been reported in any PDB patient. The drugs of choice for treatment of PDB are bisphosphonates. These drugs effectively suppress bone turnover. Patients with extensive PDB may require higher doses of bisphosphonates, and acquired resistance to a particular bisphosphonate may be overcome by use an alternative drug. Here, we report a case of suspicion of PDB. The patient presented with hypercalcemia and metastatic calcifications and his condition improved dramatically after treatment with zoledronic acid.
Bone and Bones ; Congenital Abnormalities ; Diphosphonates ; Fibrosis ; Humans ; Hypercalcemia* ; Imidazoles ; Osteitis Deformans ; Wounds and Injuries

Paget's disease of bone (PDB) is a disorder featuring high-level bone turnover associated with the presence of disorganized and immature bone tissue with excessive levels of fibrosis. The risk of deformity is very high. The etiology of PDB is not well understood, but includes both genetic and environmental factors among which is bone trauma. Hypercalcemia can occur as a complication of PDB in patients who are immobilized and dehydrated. However, to date, no case of severe hypercalcemia with metastatic calcifications in multiple organs has been reported in any PDB patient. The drugs of choice for treatment of PDB are bisphosphonates. These drugs effectively suppress bone turnover. Patients with extensive PDB may require higher doses of bisphosphonates, and acquired resistance to a particular bisphosphonate may be overcome by use an alternative drug. Here, we report a case of suspicion of PDB. The patient presented with hypercalcemia and metastatic calcifications and his condition improved dramatically after treatment with zoledronic acid.
Bone and Bones ; Congenital Abnormalities ; Diphosphonates ; Fibrosis ; Humans ; Hypercalcemia* ; Imidazoles ; Osteitis Deformans ; Wounds and Injuries

Post-traumatic hematoma formation is a common complication of contusion. If the hematoma is large enough to aspirate or drain, it can be treated quickly and appropriately. However, if the hematoma is small or concealed by local swelling, it may be overlooked and left untreated. In most cases, a hematoma will resolve following conservative treatment; however, associated infection or muscle fibrosis can occur. Herein, we present the case of a patient with a chin deformity caused by a post-traumatic hematoma. The deformity was treated using botulinum toxin and triamcinolone acetonide injections as minimally invasive treatments. The course of treatment was good.
Botulinum Toxins ; Chin ; Congenital Abnormalities ; Contusions ; Facial Asymmetry ; Fibrosis ; Hematoma ; Humans ; Triamcinolone Acetonide

A case of a 52-year-old man with retroperitoneal fibrosis and a horseshoe kidney is presented. Horseshoe kidney is one of the most common renal anomalies and complicated with urinary tract infection, hydronephrosis, calculi, tumor of the renal pelvis, and other multiple congenital abnormalities. Idiopathic retroperitoneal fibrosis is a rare disease characterized by the presence of a retroperitoneal tissue, consisting of chronic inflammation and marked fibrosis, which often entraps ureters or other abdominal organs. The correlation between horseshoe kidney and retroperitoneal fibrosis has not been described. We report a rare case of idiopathic retroperitoneal fibrosis with horseshoe kidney disease demonstrating good response to steroid therapy.
Calculi ; Congenital Abnormalities ; Fibrosis ; Humans ; Hydronephrosis ; Inflammation ; Kidney ; Kidney Diseases ; Kidney Pelvis ; Middle Aged ; Rare Diseases ; Retroperitoneal Fibrosis ; Steroids ; Ureter ; Urinary Tract Infections