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Oral lesions in recessive dystrophic epidermolysis bullosa.

OBJECTIVE: To study the prevalence of oral lesions in 35 patients diagnosed with generalized recessive dystrophic epidermolysis bullosa (RDEBg), with a quantification of their microstomia in comparison with a control group. MATERIAL AND METHODS: The presence of oral mucosal lesions and interincisal maximum oral aperture (MOA) was determined, classifying microstomia according to the method of Naylor, Douglass and Mix (1984). RESULTS: Blister lesions were identified in 92% of the patients at the time of exploration--the tongue being the most affected location. Microstomia and palatal atrophy were the most prevalent sequelae (100%), while ankyloglossia, vestibular obliteration and lingual depapillation were recorded in over 90%. In 80% of the patients interincisal MOA was <30 mm (severe microstomia), while in the remaining cases maximum aperture was in the range of 31-40 mm (moderate microstomia). CONCLUSIONS: Blister lesions were found throughout the oral mucosa in our series of patients with RDEBg, the most frequently affected location being the tongue. These lesions in turn led to invalidating sequelae such as microstomia and ankyloglossia.

Adolescent↗

Effects of a nonsurgical exercise program on the decreased mouth opening in patients with systemic scleroderma.

The decreased mouth opening (microstomia) represents a frequent finding in patients with systemic scleroderma (SSD), but little information is available about the efficacy of nonsurgical management of this condition. The aim of this study is to assess the effects of a nonsurgical exercise program on the decreased mouth opening in a group of 10 SSD patients with severe microstomia (maximal mouth opening < or =30 mm). The subjects were instructed to perform an exercise program including both mouth-stretching and oral augmentation exercises. The effects of such exercises were assessed after an 18-week period by measuring the maximal mouth opening of each subject. All patients completed the study and no adverse effects occurred, with the exception of transient muscular fatigue. The exercise program improved the mouth opening of all subjects (mean increase: 10.7+/-2.06 mm, P<0.005), without significant differences between dentate and edentulous ones (P>0.1). At the end of the 18-week period, all patients commented that eating, speaking and oral hygiene measures were easier. The edentulous subjects also experienced less difficulty inserting their own dentures. These findings suggest that regular application of the proposed exercise program may be useful in the management of microstomia in SSD patients.

Adult↗

Reconstruction of lip defects with the Karapandzic technique.

OBJECTIVE: To study the use and effects of Karapandzic technique of lip reconstruction by long-term assessment. DESIGN: A descriptive study. PLACE AND DURATION OF STUDY: CMH Rawalpindi from January 1994 to January 2002. SUBJECTS AND METHODS: Thirty seven consecutive patients who underwent Karapandzic technique of lip reconstruction with a minimum follow-up period of two years have been included. The variables assessed were hemorrhage, wound infection, flap necrosis, microstomia, reconstruction time, hospital stay and dynamic lip functions. Results drawn were analyzed. RESULTS: A total of 37 patients were included in the study. Thirteen (35%) patients were outdoor cases while 24 (65%) were in-patients. Average time of reconstruction was 40 minutes, which was done under general anesthesia in 21(57%) patients and under local anesthesia in 16 (43%) cases. Mean hospital stay of the indoor cases was 26 hours. There was no flap loss except for marginal necrosis in 04 (11%) patients. Wound infection and wound dehiscence was observed in 03 (08%) patients. Sensations were completely intact in 29 (78%) patients and aesthetically 28 (76%) patients gave normal look at the end of two years (2Y). Twenty-seven (74%) patients had no change in speech and only one (3%) patient had unsatisfactory speech after 2 years. Varying degree of microstomia was observed in all the cases at immediate postoperative stage of one month but 35 (95%) patients showed gradual improvement with active mouth opening and stretching by prosthetic splints over 2 years. CONCLUSION: The Karapandzic technique of lip reconstruction is strongly recommended over the other techniques as it is a single stage, quick and safe procedure which gives cosmetically and functionally excellent results. Microstomia, occurring in early postoperative stage, shows gradual improvement on long-term follow-up.

Adult↗

Hypomandibular faciocranial dysostosis in consanguineous parents revealed by ultrasound prenatal diagnosis.

We report here the fourth case of hypomandibular faciocranial dysostosis (HFD). The diagnosis was made at birth on the association of severe retrognathia, microstomia, severe hypoglossia with glossoptosis, persistent buccopharyngeal membrane, median cleft palate, bifid uvula, down-slanting palpebral fissures, short nose with anteverted nares, laryngeal hypoplasia, and low-set ears. A severe microstomia and micrognathia were detected by ultrasound at 31 weeks of gestation. Interestingly, even though the present case exhibits many facial dysmorphic features characteristic of HFD, craniosynostosis was absent. This report suggests that craniosynostosis is not mandatory for the diagnosis of this condition. Furthermore, we present a new argument for an autosomal recessive mode of inheritance for HFD.

Adult↗

A technique for construction of dynamic oral commissure retractors.

Microstomia may result from congenital defects, trauma, or surgery. Regardless of the etiology, the scar contracture can result in deformities that produce esthetic and functional disturbances. The literature described the use of static and dynamic commissure retractors. This article describes a technique for constructing commissure retractors from resilient mouth protector material reinforced with stainless steel wire. The tension of the commissure retractors is controlled with elastic bands attached to an orthodontic neck strap. The use of the retractor and the need for careful follow-up are addressed. The dynamic commissure retractors described have been used clinically with success. Research is required to quantify the qualitative and quantitative improvements in reducing microstomia with these retractors.

Cicatrix↗

Transmission of the dysgnathia complex from mother to daughter.

We report the first observation of parent-to-child transmission of dysgnathia, a rare disorder characterized by severe mandibular hypoplasia or agenesis, ear anomalies, microstomia, and microglossia. Patient 1 was noted prenatally by ultrasound to have severe micrognathia and, after birth, abnormal ears with canal stenosis and non-contiguous lobules located dorsally to the rest of the pinnae, normal zygomata, severe jaw immobility and microstomia with an opening of only 4 to 5 mm, hypoplastic tongue, and cleft palate. The 21-year-old mother of patient 1 was born with severe micrognathia requiring tracheostomy, microglossia, cleft palate with filiform alveolar bands, abnormal pinnae, and decreased conductive hearing. Dysgnathia is thought to result from a defect in the development of the first branchial arch. A similar phenotype has been seen in Otx2 haplo-insufficiency and endothelin-1 homozygous null mice, suggesting that these genes contribute to branchial arch development. Our report of a long-surviving mother and her daughter with non-syndromal dysgnathia may lead to identification of the molecular basis of these findings and provide insight into the genetics of first branchial arch formation. The survival of patient 1 and patient 2 beyond the neonatal period has implications for improvements in prenatal diagnosis and counseling and for neonatal treatment of this condition.

Adult↗

[Anesthetic management of an infant with Freeman-Sheldon syndrome].

We report the anesthetic management of Freeman-Sheldon (whistling face) syndrome in a two-month-old boy scheduled for lateral canthoplasty. He had features of the syndrome including blepharophimosis, hypertelorism, a flat nose, microstomia with a limited opening, micrognathia, a very short webbed neck, scoliosis and multiple arthrogryposis. He was fed with a naso-gastric tube and suffered from several episodes of aspiration and oxygen desaturation. Difficult airway and intubation were anticipated. Anesthesia was induced via a mask with sevoflurane, although mask ventilation was difficult. Direct laryngoscopy and the insertion of a laryngeal mask airway were impossible due to microstomia with the limited opening as anticipated. A naso-tracheal intubation was achieved using a fiberoptic bronchoscope via a fiberoptic mask while ventilating the lungs. The operation and anesthesia afterwards were uneventful. In the ward, he was given supplemental oxygen but with occasional desaturation episodes. Thirteen days after the operation he was found cyanotic and resuscitation was attempted but failed. Autopsy demonstrated the hypoplasia of the lungs and thorax, atelectasis and bronchitis.

Abnormalities, Multiple↗

[Anesthetic management of a patient with Freeman-Sheldon syndrome].

The Freeman-Sheldon syndrome is a rare congenital myopathy and dysplasia that results in deformity of the face, hands, and feet. We describe here some problems in general anesthesia from the anesthetic management point of view. An 8-year-old girl with Freeman-Sheldon syndrome underwent surgery under general anesthesia for the correction of lip deformity and microstomia. Patients with this syndrome may present anesthetic problems involving difficulties in endotracheal intubation due to microstomia, micrognathia and neck rigidity, as well as postoperative respiratory complications and problems that relate to myogenetic morphology and myofunctional abnormalities. Preoperatively, we analyzed X-ray cephalograms to evaluate the difficulty of endotracheal intubation. Fiberscopic endotracheal intubation was performed; the time required was 55 minutes. On recovery from anesthesia and after becoming fully responsive, she was extubated in the operating room without any complications. Postoperative recovery was uneventful. Patients with Freeman-Sheldon syndrome should be managed by good preanesthetic preparation, and attention should be paid to postoperative respiratory complications due to the use of muscle relaxants and to securing intravenous access.

Abnormalities, Multiple↗

Restrictive dermopathy associated with transposition of the great arteries and microcolon: a rare neonatal entity with new symptoms.

BACKGROUND: Restrictive dermopathy is a very rare autosomal recessive skin disorder. The typical pathologic findings are striking: microstomia, micrognathia, thin but very tight translucent skin that tears spontaneously, and arthrogryposis multiplex. The mechanisms behind this disease are unknown. OBSERVATIONS: We describe for the first time a newborn girl with restrictive dermopathy, transposition of the great vessels, and microcolon. She had thin shiny skin with nearly no compliance indicating restrictive dermopathy. Additional dysmorphic findings included enlarged fontanelle, hypertelorism, absent eyelashes, small pinched nose, microstomia, micrognathia, dysplastic ears, pterygium colli, dyplastic fingers and toes with upper- and partial lower-limb flexion contractures, dysplastic genitalia, and muscular hypotonia. She also had left transposition of the great artery with small atrial septal defect, bilateral hypoplasia of the first rib, and congenital stenosis of the small bowel with microcolon. CONCLUSIONS: The pathogonomic diagnostic features remain reduced dermal thickness and nearly complete absence of elastic fibers in the dermis. In mice, a defective fatty acid transport protein 4 gene (Fatp4) leads to clear signs of restrictive dermopathy by influencing the arrangement of the lipids in the epidermis. Whether the left transposition of the great artery is associated with restrictive dermopathy or represents an additional malformation of multifactorial, polygenetic, or monogenetic cause remains open.

Abnormalities, Multiple↗

Morphogenesis of isotretinoin-induced microcephaly and micrognathia studied by scanning electron microscopy.

Isotretinoin ingestion during the first trimester of human pregnancy can induce malformations of the skull, ears, face, central nervous system, eyes, palate, lungs, circulatory system, limbs, and digits. A single oral dose of isotretinoin on day 8 of gestation in hamsters induces a similar syndrome of congenital malformation. The present study concerned scanning electron microscopic (SEM) observation of embryonic and fetal hamster craniofacial structures at 4, 8, 12, 24, 48, and 72 hr after administration of an oral dose of 50 mg/kg isotretinoin or an equivalent volume of the vehicle. The variability in development among control embryos recovered 4 hr after treatment precluded objective assessment of pathologic change by SEM at very early time points. Craniofacial damage was obvious within 8-12 hr of isotretinoin treatment, and it included hypoplasia of the maxillary and mandibular processes of the first branchial arch, a rudimentary second arch, and apparent collapse of the forebrain. Equivalent fusion between the lateral nasal process and the maxillary process and between the medial nasal process and the maxillary process in treated and control embryos accounts for the very low incidence of cleft lip observed in fetuses. The terminal microstomia was not associated with excessive merging or overgrowth of the first arch components. Hypoplasia of the first arch can account for retinoid-induced macrostomia and microstomia.

Animals↗

A modified dynamic mouth splint for burn patients.

The prevention and management of microstomia contracture is very important for the quality of life in a patient who has experienced facial burns. Mouth opening is important for speech, eating, dental hygiene, expression, social interaction, psychosocial well being, and administrating general anesthesia. Principles of scar management state a need for opposing horizontal, vertical, and circumferential forces for effective management of microstomia. At the Royal Brisbane and Women's Hospital, horizontal and circumferential stretch was provided well; however, a suitable vertical stretch component was required. After a literature review, we introduced and trialed a dynamic mouth splint. Subsequently, a modified dynamic mouth splint was developed. The presentation here of four case studies will demonstrate that the use of the splint in combination with current practice has improved mouth opening and consequently functional outcomes.

Adult↗

Oro-dental manifestations in Hallopeau-Siemens-type recessive dystrophic epidermolysis bullosa.

Recessive dystrophic epidermolysis bullosa of Hallopeau-Siemens (RDEB-HS) is a rare genetic disorder characterized by trauma-induced blisters, milia, acral pseudosyndactyly, and scarring. RDEB-HS patients present with a distinct pattern of oral involvement consisting of microstomia, ankyloglossia, vestibule obliteration and dental caries. In this review, we describe the orodental manifestations of RDEB-HS and present our experience in a cohort of six new cases of RDEB-HS in children aged 6-10 years, documenting the presence of microstomia, ankyloglossia and vestibule obliteration in childhood. We also show that compared with unaffected control children, RDEB-HS subjects have a greater risk of developing high caries indices with early onset, both for permanent or deciduous teeth, and a worse oral hygiene index (scored as OHI). Tooth malpositions and the cross-bite relationship between maxilla and mandible could play a major role in promoting these events. We propose that dental management of RDEB-HS subjects should commence as soon as tooth eruption begins.

Child↗

Dystrophic epidermolysis bullosa: oral findings and problems.

Dystrophic epidermolysis bullosa (DEB) is one of the three major types of epidermolysis bullosa (EB), an inherited cutaneous disease with blister formation following minor trauma. A subtype of DEB is recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (RDEB-HS), where marked scarring leads to deformities of extremities. In RDEB-HS the mucous membranes may also be involved and form adhesions with ankyloglossia and microstomia. Oral hygiene is difficult. A 7-year-old boy with RDEB-HS was brought to the Johannes Gutenberg University dental clinic with dental pain. He had multiple carious lesions, poor oral hygiene and gingivitis. Because he was noncompliant and had microstomia, he required dental therapy under general anesthesia. The recall visits over the past two years had demonstrated that the dental health of this patient with RDEB-HS could be maintained by means of improved oral home care, using antibacterial agents.

Anti-Infective Agents, Local↗