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PubMedDate not supplied

[Early diagnosis of progressive systemic sclerosis: the role of oro-facial phenomena].

BACKGROUND: The study considers the oro-facial manifestations occurring in a group of patients suffering from progressive systemic sclerosis, evaluating their predictive role and monitoring the systemic disease. METHODS: 34 patients with systemic sclerosis were examining: 30 women, 4 men, at the Department of Dental Sciences, Palermo University, from July 1998 to March 2001. All patients were positive for the diagnostic criteria of scleroderma.1 For each patient we considered: observation of any changes in soft tissues of the oral cavity; evaluation of possible xerostomia; evaluation of any fungal infections; presence of prosthetic sores in patients wearing dentures; DMFS evaluation; evaluation of periodontal health; evaluation of bone resorption. RESULTS: One of the most interesting results was that: in 4 patients, medical history contained past trigeminal sensory neuropathy characterised by the slow and gradual numbness of the face muscles, which developed into pain and paresthesia, weakening or disappearance of the sense of taste and in one case loss of sensitivity at the oro-pharynx (this progression of symptoms preceded by three years the onset of systemic manifestations, and consequently diagnosis); 14 patients as first sign of the disease had a "hardening" of the skin of the face with consequent microstomia with marked difficulty in speaking. CONCLUSIONS: The most significant result emerging from this study was the predictive role of progressive systemic sclerosis, that can be played by some oro-facial manifestations; an important element which has recently changed the life expectation for scleroderma patients is the possibility of diagnosing the disease in an early phase and thus bringing to bear all the therapeutic measures necessary to hinder development of the disease and its consequences.

Adult↗
PubMed2002

[Etoposide ameliorated refractory hemophagocytic syndrome in a patient with systemic sclerosis].

We successfully treated a 33-year-old woman with etoposide who developed systemic sclerosis (SSc)-associated refractory hemophagocytic syndrome (HPS). She had been diagnosed as SSc because she had had Raynaud's phenomenon, proximal scleroderma, telangiectasia, microstomia, thickening and shortening of lingual frenulum and positive antinuclear antibody since 1994. In September 1999, she showed high fever, anemia, thrombocytopenia, elevation of serum lactate dehydrogenase (LDH) and ferritin levels and hemophagocytosis in her bone marrow, which led to the diagnosis of HPS. Her symptoms were improved by 40 mg of daily oral prednisolone (PSL). While tapering PSL, she complained right coxalgia and magnetic resonance image (MRI) depicted avascular necrosis (AVN) of right femoral head. In May 2000, she again suffered from HPS when she was taking 19 mg of PSL daily. To avoid the development of another AVN of her bone, she was treated with monthly cyclophosphamide (CPA) pulse therapy (300-400 mg/day). Although her HPS transiently ameliorated with CPA, it flared up again with high fever, general fatigue, severe pancytopenia and extremely high serum LDH and ferritin levels after the 4th CPA pulse therapy. She was admitted again to our hospital and PSL was increased to 40 mg daily which did not improve HPS. We, therefore, treated her with intravenous etoposide (100 mg/day, three consecutive days) along with granulocyte-colony stimulating factor (G-CSF). She developed transient bone marrow suppression, but her laboratory data gradually normalized within two weeks and she became afebrile after 18 days of etoposide administration. This is the first case in the literature which suggests the efficacy of etoposide against refractory autoimmune-associated hemophagocytic syndrome.

Adult↗
PubMed2003

Case report: orofacial characteristics of Hallermann-Streiff Syndrome.

BACKGROUND: Hallermann in 1948 and Streiff in 1950 described patients characterised by "bird face", congenital cataract, mandibular hypoplasia, and dental abnormalities. The new syndrome was later defined as Hallermann-Streiff Syndrome (HSS), underlining the differences with regard to Franceschetti's mandibulofacial dysostosis. CASE REPORT: Examination of a white male affected by Hallermann-Streiff Syndrome revealed facial characteristics typical of the "bird face" in HSS. The nose appeared thin, sharp and hooked; the prominence of the chin was absent in the lateral view; a marked microstomia was evident as well. Radiographic records showed aplasia of teeth 14, 13, 12, 22, 24, 35, 34, 33, 32, 31, 41, 42, and 43. As for orthodontic diagnosis, the following dentoskeletal features were assessed: skeletal Class II malocclusion, narrow upper arch, bilateral posterior crossbite, and anterior open bite. Lateral cephalogram showed hypoplasia of the mandible, a typical sign of HSS. The mandible revealed a clockwise rotation growth pattern with an opening of the gonial angle, skeletal anterior open bite, and an excessive vertical dimension of the lower third of the face. Radiographs at the age of 13 years showed an anomaly in shape of the lower right first bicuspid, which appeared with a double crown. TREATMENT: Orthodontic treatment started at 10 years of age with rapid maxillary expansion in the early stages of the mixed dentition, in order to correct the posterior crossbite due to the narrow maxillary arch. A subsequent phase of the orthodontic therapy consisted of a functional appliance with the goal of maintaining the transverse dimension of the dental arches and of controlling the tongue thrust in the anterior open bite. Surgical and prosthetic interventions were scheduled at completion of growth to solve the skeletal discrepancy and for occlusal rehabilitation. FOLLOW-UP: The therapeutic protocol used in the patient presented here was able to reach the orthodontic goals during the developmental ages. Further treatment is planned as there are multiple missing permanent teeth and prosthetic/restorative care is needed until the patient reaches full adulthood.

Child↗
PubMed2004

[Anesthetic management of a child with Schwartz-Jampel syndrome].

A 6-year-old child with Schwartz-Jampel syndrome (SJS) underwent tenotomy of bilateral lower limbs under general anesthesia. Patient with SJS has problems such as difficulty of intubation owing to microstomia and jaw muscle rigidity, and is susceptible to malignant hyperthermia by using volatile inhalation anesthetics. In this case, we used a laryngeal mask for airway management and anesthesia was maintained with inhalation of nitrous oxide and continuous i.v. infusion of propofol with caudal block, and his clinical course was uneventful.

Anesthesia, General↗
PubMed2005

Survival up to age 10 years in a patient with partial duplication 6q: case report and review of the literature.

Partial duplication of chromosome 6q has been recognized as a distinct dysmorphic syndrome with severe psychomotor and growth retardation, typical craniofacial features including microcephaly and microstomia, neck webbing, congenital contractures, and variable internal malformations. Most patients have died in the first year of life. We describe the clinical features and disease course in a boy with a duplication of 6q23.3-qter who lived up to the age of 10 years and discuss similarities with other patients.

Child↗
PubMed2005

[Restrictive dermopathy: a rare, lethal genodermatosis].

In a premature male infant born of consanguineous parents, restrictive dermopathy was diagnosed. This is a rarely described, lethal, congenital skin disease. The diagnosis was based on the clinical and histopathological findings: a fixed facial expression (so-called 'porcelain face') with palpebral fissures inclined laterally downwards, microstomia with the mouth in the 'O'-position, micrognathia and low-set ears inclined toward the rear, prominent blood vessels in the skin and contracture of all the joints; histopathological examination of a skin biopsy revealed a smooth epidermis and a relatively thin dermis with an abnormal structure of the dermal connective tissue in which the collagen fibres were arranged more or less horizontally, parallel to the epidermis, and the number of elastin fibres was sharply decreased. Various adnexal structures were present but the hair follicles had an abortive appearance. Thanks in part to the finding of a homozygous mutation in the so-called ZMPSTE24-gene, it could be concluded that restrictive dermopathy is probably an autosomal recessive laminopathy, related to progeria. Increasing the clinical awareness of this disease may contribute to reducing the presumed under-reporting, so that future research will become possible.

Abnormalities, Multiple↗
PubMed2006

[Clinical management of deep facial burn].

OBJECTIVE: To explore the better clinical methods for the management of deep facial burn with optimal quality. Methods Fifty-four patients with deep facial burns were enrolled in the study and were divided into delayed skin grafting group (n=48) and early escharectomy group (n=6). In delayed grafting group, after the erosion of new born granulation tissue to the basal layer with blade holder or with peel or eschar shaving method at 3 postburn weeks (PBW) according to the eschar separation and granulation growth status, the whole face of the patients were divided into 10 regions and were then covered by split thickness auto skin. The same treatment was performed on the patients in early escharectomy group at 1 PBW. Physical therapy and plastic surgery were applied after skin grafting, and the patients were followed up from 3 month to 11 years. The first operation time, postburn facial operation time, operation times to repair the whole face, blood content of Hb, the amount of blood transfusion and hemorrhage and the prognosis were compared between the two groups. RESULTS: There was no difference between the two groups in regards to the first operation time, the total operation times,blood concentration of Hb before and after operation,and the amount of blood transfusion during the operation (P > 0.05). The operation time in delayed grafting group (21.9 +/- 3.2) d was obviously later than that in early escharectomy group (12.6 +/- 1.3) d, (P < 0.05). And there was evidently less amount of hemorrhage during operation(98 +/- 52) ml/100 cm2 than that in early escharectomy group (331 +/- 121) ml/100 cm2 (P < 0.01). The facial appearance of the patients in delayed grafting group was plump with more elasticity and richer expression compared with those in early grafting group. There exhibited different degrees of microstomia and both eyebrow defect in both groups during and after 1 postoperative year. In addition, mild to moderate ectropion and hypertrophic scar on the conjunction of grafted skin could appear in 80% of these patients. These deformities might be corrected by several times of plastic surgery. CONCLUSION: Based on the principle of arranging skin grafts according to the cosmetic and functional area units, split thickness skin grafting can provide satisfactory results for the repair of deep burn injury involving whole face when the wounds were treated with eschar peeling, tangential excision, escharectomy, granulation tissue scaling, or early escharectomy. In comparison with early escharectomy, eschar peeling, tangential excision, escharectomy, or granulation tissue scaling can get better results with less bleeding, full and round facial appearance, more elasticity of grafted skin and richer facial expression appearance after the operation. Meanwhile, effective physical therapy and scheduled plastic surgery after skin grafting can also be very important in achieving cosmetic results in the repair and reconstruction of whole facial deep burn.

Adolescent↗
PubMed1991

Early excision and skin grafting of selected burns of the face and neck.

Since 1979, 16 patients with facial and neck burns have been treated with excision and skin grafting within the first 4 days of injury. The injuries were tangentially excised and immediately covered with split-thickness skin grafts. Detailed consecutive results are presented. The patients can be divided into three groups. Group 1 consisted of small subdermal or circumscribed deep dermal burns of the face (n = 8). Healing was quick. Some patients developed signs of overgrafting. As a late result, unevenness and discoloration were seen. Group 2 consisted of mixed deep dermal and subdermal burns of the face and neck (n = 5). Usually, minor areas had to be regrafted. Some patients developed hypertrophic scars at border areas. In the completely excised and grafted area, the skin was smooth, pliable, and discolored. Group 3 consisted mostly of subdermal burns of the face and neck (n = 3). The surgical trauma was significant. Small areas had to be regrafted. Ectropion and microstomia developed. It is concluded that in selected cases of deep dermal and subdermal burns, early excision and skin grafting will result in faster healing and less scarring than expectant treatment.

Adolescent↗
PubMed1990

A Chinese family with Wolfram syndrome presenting with rapidly progressing diabetic retinopathy and renal failure.

We describe a Chinese family with three siblings, all females, presenting with the Wolfram Syndrome. All three cases had almost similar clinical presentation of insulin-dependent diabetes mellitus, with rapid development of severe renal and retinal complications. Two siblings died at age thirty and thirty-one years of end-stage renal failure. All three cases had visual symptoms since early childhood progressing rapidly to loss of vision. Two of the three siblings had severe diabetic retinopathy requiring laser photocoagulation. These presentations are in contrast to most reported cases of the Wolfram syndrome where advanced diabetic eye complication is a rare feature. We also present several features present in one of the siblings, viz., microcephaly, microstomia, clinodactylyl, brachydactylyl, empty sella syndrome and severe hypoplasia of the right internal carotid vessels associated with mild narrowing of the left internal carotid artery which have not been previously described.

Adult↗
PubMed1988

[Variants of plastic surgery using trapezoid adipose-cutaneous flaps in post-burn marginal deformities and contractures].

Most optimal methods of plasty with the maximum use of intact skin of a healthy leaf and adjacent area as a trapezoid cellulo-cutaneous flap are proposed. Different variants of the operation are proposed as one-, two-, three- and many-flaps plasty with local tissues and one- and two-flaps combined plasty. The choice is dependent on the localization and degree of contracture. Plasty by the methods proposed allows to adequately eliminate marginal contractures of large vessels, syndactylia, microstomia and narrowing of the lid slit.

Adipose Tissue↗
PubMed1988

[The management of chemically burned oral tissue--a case report].

Oral and perioral burns often result in post-healing microstoma, a shallow vestibule, tongue ankylosis, esthetic problems, and masticatory and speech impairments. The main cause being persistent extensive scar tissue contractions during the healing process. These disastrous sequelae can be minimized by surgical reconstruction. Use of special prosthesis may be required to provide scar tissue with the physical ability to resist contraction in post-injury and post-surgery stages. A twenty-eight-year old female was admitted to Makay Memorial Hospital in October 1986, with chemicals burn over the lower face, involving both upper and lower lips, and the entire oral mucosa. The patient had accidentally swallowed a corrosive detergent (Drano). Microstomia and tongue ankylosis developed within three months. Surgical reconstruction with the use of special oral prostheses (a commissure splint, angular retractor, and mouth protector) was conducted to counteract scar tissue contractions. Within two years of follow up, results were acceptable. The patient is presently able to open her mouth wide enough for both mastication and speech.

Adult↗
PubMedDate not supplied

[Facial dysmorphism related to valproic acid ingestion during pregnancy].

The authors report a case of cranio-facial changes in a neonate who had been exposed to Valproate. Clinical picture consisted of hypoplastic fronto-orbital edges and microstomia. These abnormalities are compared with the series reported in the literature.

Abnormalities, Drug-Induced↗
PubMed1988

Oropharyngeal lesions and their management in epidermolysis bullosa.

Unique oral problems are usually encountered in the patient with epidermolysis bullosa affecting both soft and hard oral tissues. Bulla formation leading to scarring, ankyloglossia, and microstomia restricts normal oral activities. In addition, food retention on hypoplastic enamel increases tooth breakdown. Management of routine dental care is complicated by the fears of both the patient and dentist. Preventive dental therapy should be initiated as early as possible to reduce dental diseases. Early intervention along with frequent evaluation by the dentist are indicated to ensure optimal dental health and oral functioning.

Dental Restoration, Permanent↗
PubMed1978

[Do all cases of trisomy 18 with long survival (beyond 10 years) show mosaicism in fibroblasts? (author's transl)].

Description of a young girl aged 16 1/2 years who presents the typical features of trisomy 18 : small height, microdolichocephaly, anti-mongoloid palpebral fissures, micrognathia, microstomia, arched palate, malformed ears, atrophy of thenars and hypothenars, clinodactyly of fifth fingers and abortive cutaneous syndactyly between IV and V. At the lower limbs, there is a shortening of the right leg, an atrophy of the calves, as well as genua valga and bilateral pes excavatus with dorsiflexion of the toes. The gait is rigid with enlarged basis of sustentation. The results of the cardiac examination point to a minor ventricular septal defect. The development of secondary sexual characters (breasts and body hair) corresponds to the puberal age; the large pudendal lips are hypoplastic. The X-rays show a double left kidney. There is a very severe oligophrenia (I.Q. = 20). Cytogenetic examinations showed a typical trisomy 18 in 100% of observed lymphocytes, while the analysis of cutaneous fibroblasts revealed a mosaicism with 87% of trisomic cells. Out of 11 cases of trisomy 18 with long survival from the literature only 3 cases were of mosaic type. The authors assume that this small number of mosaic cases in trisomy is probably due to the fact that no examination of fibroblasts has been carried out in the seven other cases.

Abnormalities, Multiple↗
PubMed1982

[Agnathia, apropos of a case].

A male 32 weeks still-born with agnathia is reported. Other malformations are pointed out: microstomia, microglossia, type III microtia and meatal atresia. There are vertebral clefts of D7 et D10. Probands and parents chromosomal analysis are normal. Mother is 28 years old, gravida 7, para 3 and father is 46 years old. They are algerian, healthy, non related. A single one male child is alive and in good health.

Abnormalities, Multiple↗
PubMed1982

Autosomal recessive type of whistling face syndrome in twins.

A report of concordant monochorionic, diamnionic like-sex twins with whistling face syndrome is presented. The diagnosis was based on the characteristic facies with prominent supraorbital ridge, sunken eyes, telacanthus, short nose and colobomata of the nostrils, long philtrum, high narrow palate, and marked microstomia with puckered lips and an "H"-shaped cutaneous dimpling on the chin. The hands showed symmetrically clenched fingers with camptodactyly and ulnar deviation. The feet demonstrated mild bilateral talipes equinovarus. HLA studies to determine the zygosity of the twins showed discordance in HLA haplotypes, which indicated dizygosity. The pedigree analysis showed normal nonconsanguineos parents, and no other family members had the syndrome. The findings support the existence of an autosomal recessive type of whistling face syndrome.

Abnormalities, Multiple↗
PubMed1994

Congenital limb reduction defects: report of two cases.

We describe two Malay male term neonates with congenital limb reduction defects. The first neonate had hypodactyly of limbs associated with micrognathia, microstomia, glossopalatine ankylosis and congenital mitral stenosis. He developed gram-negative septicaemia and died on day 14 of life. The second neonate had tetraperomelia without any other associated congenital abnormality. He developed staphylococcal skin infection which was treated conservatively. Very few cases of congenital limb reduction defects have been reported in the Asian population and we are not aware of any other reports describing Malay infants with the congenital abnormalities described in this report.

Abnormalities, Multiple↗
PubMed1994

Hereditary epidermolysis bullosa.

Epidermolysis bullosa (EB) is a diverse group of disorders having blister formation as their common feature. Tissue separation occurs at variable depths in the skin and/or mucosa depending on the specific EB type. Marked oral involvement of the soft and hard tissues can produce potentially devastating alterations, with oral tissue fragility and blistering common to all EB types. Oral debilitation resulting from soft tissue scarring is limited primarily to the recessive dystrophic EB subtypes. Individuals with generalized recessive dystrophic EB typically have microstomia, obliteration of the oral vestibule, and ankyloglossia. Generalized enamel hypoplasia appears to be limited to junctional EB, whereas rampant dental caries afflicts many individuals having either junctional or generalized recessive dystrophic EB. Although systemic treatment remains primarily palliative, it is possible to prevent destruction and subsequent loss of the dentition through appropriate interventions and dental therapy. The severely affected soft and/or hard tissues frequently seen in patients having generalized recessive dystrophic and junctional EB often require aggressive dental intervention to maintain optimal oral health. Even the most severely affected individuals with EB can retain their dentition through the use of modern dental restorative techniques delivered using general anesthesia.

Dental Enamel Hypoplasia↗