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At least 937 records · Page 52Linked to original sources
PubMed1997

Syringomatous carcinoma of the eyelid and orbit: a clinical and histopathological challenge.

AIMS: To present three patients with a syringomatous carcinoma (SC). SC is a rare cutaneous neoplasm, most frequently situated on the face and scalp and histologically characterised by an infiltrative pattern of basaloid or squamous cells, a desmoplastic stromal reaction, keratin filled cysts, and granular structures. METHODS: The clinical histories of the patients with a SC were investigated retrospectively. RESULTS: Patient 1 had a benign appearing tumour of the lower eyelid. Five tumour excisions were necessary to remove the SC completely. Patient 2 had a tumour on the lateral part of the lower eyelid and in the medial canthal area. The histopathological findings revealed a squamous cell carcinoma, later revised as a SC. In spite of two excisions and one microscopically controlled excision, a recurrence occurred. An exenteration orbitae was recommended. Patient 3, known to have a history of multiple malignant skin tumours after kidney transplantation and use of cyclosporin, presented with a firm mass in the eyebrow region and in the nasal area of the orbit. The pathological diagnosis of this adnexal tumour was difficult. An exenteration was recommended. CONCLUSIONS: SC is a benign appearing but extremely invasive, locally destructive, slowly growing adnexal tumour, derived from eccrine sweat glands. It is often mistaken, both clinically and microscopically, for other benign and malignant entities. The tumour recurrence is high due to extensive perineural invasion, but regional or distant metastases are rare. The local aggressive nature of the tumour and the high recurrence rate may necessitate mutilating procedures. Optimal treatment consists of a complete microscopically controlled surgical excision with clear surgical margins.

Aged↗
PubMed1989

Analysis of hurling and camogie injuries.

In 1984, 4500 people with sport injuries attended the Cork Regional Hospital. Of these, 817 were injured in the national game of hurling and camogie. Hand injuries were the most frequent occurring in approximately one third of injured players (33 per cent) and of these, just half had a closed metacarpal fracture. Facial injuries were the second most frequent category (28 per cent). Almost one third of these were nasal fractures, while forehead and eyebrow lacerations, fractured zygoma, loss of teeth are also common. Sport eye injuries referred to the Eye, Ear and Throat Hospital in Cork during the same period amounted to 107, of which 26 occurred in hurling. It is believed that a properly designed protective head gear would largely eliminate such facial and eye injuries.

Adult↗
PubMed1976

Trisomy 13 in a female over 5 years of age.

A case of simple trisomy 13, confirmed by G-banded chromosome analysis, is reported in a Caucasian female over 5 years of age. There is no cytogenetic evidence available for mosaicism in the propositus or her parents. The patient's salient clinical features are: profound mental and motor retardation; microcephaly with trigonocephaly; ear malformations; small, sunken eyes; unusual eyebrows; cleft lip and palate; bulbar nose; coloboma iris; polydactyly; unusual dermatoglyphic patterns; large adductor thumbs; enlarged great toes; multiple capillary haemangiomas; club feet; inguinal and umbilical hernias; hyperconvexed fingernails; and seizure disorder.

Child, Preschool↗
PubMed2006

The cardiofaciocutaneous syndrome.

The cardiofaciocutaneous (CFC) syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. It is characterised by failure to thrive, relative macrocephaly, a distinctive face with prominent forehead, bitemporal constriction, absence of eyebrows, hypertelorism, downward-slanting palpebral fissures often with epicanthic folds, depressed nasal root and a bulbous tip of the nose. The cutaneous involvement consists of dry, hyperkeratotic, scaly skin, sparse and curly hair, and cavernous haemangiomata. Most patients have a congenital heart defect, most commonly pulmonic stenosis and hypertrophic cardiomyopathy. The developmental delay usually is moderate to severe. The syndrome is caused by gain-of-function mutations in four different genes BRAF, KRAS, mitogen-activated protein/extracellular signal-regulated kinase MEK1 and MEK2, all belonging to the same RAS-extracellular signal-regulated kinase (ERK) pathway that regulates cell differentiation, proliferation and apoptosis. The CFC syndrome is a member of a family of syndromes that includes the Noonan and Costello syndromes, presenting with phenotypic similarities. Noonan syndrome is caused by mutations in the protein tyrosine phosphatase SHP-2 gene (PTPN11), with a few people having a mutation in KRAS. Costello syndrome is caused by mutations in HRAS. The protein products of these genes also belong to the RAS-ERK pathway. Thus, the clinical overlap of these three conditions, which often poses a problem of differential diagnosis, is explained by their pathogenetic relatedness.

Abnormalities, Multiple↗
PubMed1986

Trisomy 18 in a 13 year old girl.

A 13 year old girl with trisomy 18 is described. She showed profound mental and growth retardation, severe kyphoscoliosis, and unusual ocular features including discontinuous eyebrows, distichiasis, and blue sclerae.

Adolescent↗
PubMed1986

Phenotype-karyotype correlation in patients trisomic for various segments of chromosome 13.

Analysis of clinical and cytogenetic findings taken from 62 published cases of partial trisomies of chromosome 13 showed that 15 had partial trisomy for the proximal long arm and 47 had trisomy for the distal long arm. Persistence of fetal haemoglobin (Hb F), increased projections of polymorphonuclear leucocytes (PMN), depressed nasal bridge, cleft lip/palate, and clinodactyly were more frequent in patients with proximal trisomy 13. In the distal trisomy group, the common features included haemangioma, bushy eyebrows, long curled eyelashes, prominent nasal bridge, long philtrum, thin upper lip, highly arched palate, and hexadactyly. In addition, several other features were common to both the groups, often showing inconsistency even when the same segment was in trisomy. The influence of the second aneusomy as the most likely cause for such inconsistent and overlapping phenotypes is discussed in view of the fact that 42 of 62 cases were derived from a balanced translocation carrier parent.

Aneuploidy↗
PubMed1989

Cone-rod congenital amaurosis associated with congenital hypertrichosis: an autosomal recessive condition.

Two female cousins were found to be affected with severe retinal dystrophy characterised by visual impairment from birth and profound photophobia in the absence of night blindness. Minimal fundus changes with a small foveal atrophy in the older cousin and slight macular pigment epithelial changes suggestive of early bull's eye appearance in the younger were detected, indicative of a cone-rod type of congenital amaurosis. This was associated with trichomegaly, bushy eyebrows with synophyrys, and excessive facial and body hair (including hypertrophied circumareolar hair on the breasts of the older cousin). The mode of inheritance appears to be autosomal recessive.

Abnormalities, Multiple↗
PubMed1990

The Coffin-Siris syndrome.

We report a white female infant with typical features of Coffin-Siris syndrome including thick eyebrows, flat nasal bridge, anteverted, wide nose tip, generalised hypertrichosis, scalp hypotrichosis, absence of the fifth fingernails and toenails, absence of the distal phalanges of the fifth fingers and of the second to fifth toes, small patellae, inguinal hernia, and sucking and feeding difficulties. There was decreased fetal activity and intrauterine growth retardation.

Female↗
PubMed1990

Partial monosomy for chromosome 22 in a patient with del(22)(pter----q13.1::q13.33----qter).

An 18 month old girl with partial monosomy for the long arm of chromosome 22 is described. The karyotype was 46,XX,del(22)(pter----q13.1::q13.33----qter). To our knowledge this is the first report of monosomy for this specific segment of chromosome 22. Clinical features include developmental delay in all areas, hypotonia, macrosomia, full cheeks, eyebrows, and eyelids, mild epicanthus, wide nasal bridge, long philtrum, and thick lower lip. Parental chromosome studies were normal.

Chromosome Aberrations↗
PubMed1992

Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers.

Keratosis follicularis spinulosa decalvans (KFSD) is a rare X linked disease which is characterised by follicular hyperkeratosis of the skin and corneal dystrophy. Seven male patients and six female carriers are described. Special attention has been paid to the dermatological and ophthalmic markers of KFSD in patients and carriers. The most prominent features present in the male patients were follicular hyperkeratosis, hyperkeratosis of the calcaneal regions of the soles, scarring alopecia of the scalp, absence of eyebrows and eyelashes, and corneal dystrophy accompanied by photophobia. They also had high cuticles on the fingernails which has not been described before. Carriers often have dry skin, minimal follicular hyperkeratosis, and mild hyperkeratosis of the calcaneal areas of the soles. Mild corneal dystrophy without photophobia was observed in one female carrier.

Adult↗
PubMed1992

The orocraniodigital syndrome of Juberg and Hayward.

We report three new isolated cases of orocraniodigital syndrome (Juberg-Hayward syndrome). The main clinical features of this unusual birth defect (six patients from three families described so far) are cleft lip/palate, hypertelorism, bowed and upward slanting eyebrows, thumb hypo/aplasia or proximal/distal thumb displacement, luxation of the radial head, elbow restriction, minor vertebral and rib anomalies, and horseshoe kidneys. New features observed in our patients are severe mental impairment (not correlated with the severity of the malformations), anterior anal displacement, and ptosis. Recessive inheritance is likely, but autosomal dominant inheritance cannot yet be totally ruled out; therefore, genetic counselling of parents of an affected child and of affected patients themselves must be cautious.

Adolescent↗
PubMed1997

Macrocephaly, epilepsy, autism, dysmorphic features, and mental retardation in two sisters: a new autosomal recessive syndrome?

We report two sisters with macrocephaly, epilepsy, and severe mental retardation. The first child was a 14 year old girl born at term after a normal pregnancy, with birth weight 3600 g and occipitofrontal circumference (OFC) 36 cm (75th centile). Her head size increased markedly during the first six months of life, and was later stable at 2-3 cm above the 97.5th centile. Her development was characterised by psychomotor delay, epilepsy, and autistic features. Her face appeared mildly dysmorphic with a large forehead, short philtrum, and bushy eyebrows. Her younger sister was also born at term with birth weight 2600 g and OFC 34 cm (25th centile). She also developed postnatal macrocephaly with OFC 2 cm above the 97.5th centile and the same mild dysmorphic facial features as her sister. Her development was also characterised by psychomotor delay, autistic features, and epilepsy. In addition, she suffered from coeliac disease. She died unexpectedly at the age of 5 years, probably from an epileptic attack. Necropsy confirmed megalencephaly but no other pathological changes were found. The clinical features in these two sisters do not fit with any known syndrome and may represent a previously unrecognised autosomal recessive disorder.

Abnormalities, Multiple↗
PubMed1997

De Lange syndrome: subjective and objective comparison of the classical and mild phenotypes.

Classical de Lange syndrome presents with a striking face, pronounced growth and mental retardation, and variable limb deficiencies. Over the past five years, a mild variant has been defined, with less significant psychomotor retardation, less marked pre- and postnatal growth deficiency, and an uncommon association with major malformations, although mild limb anomalies may be present. We have evaluated 43 subjects with de Lange syndrome, 30 with classical features, aged from birth to 21 years, and 13 with the mild phenotype, aged from 18 months to 30 years. In addition to assessment of gestalt and facial change with time, detailed craniofacial measurements have been obtained on each subject and composite pattern profiles compiled. The characteristic face of classical de Lange syndrome is present at birth and changes little throughout life, although there is some lengthening of the face with age and the jaw becomes squared. In mild de Lange syndrome, the characteristic classical appearance may be present at birth, but in some subjects it may be two or three years before the typical face is obvious. In general, the overall impression is less striking, perhaps because of increased facial expression and greater alertness. With age, the face loses the characteristic appearance, the nasal height increases, the philtrum does not seem as long, and the upper vermilion is full and everted, although the crescent shaped mouth with downturned corners remains. Eyebrows may be full and bushy. Objective comparison of the face in mild and classical de Lange syndrome, through the use of craniofacial pattern profiles, shows marked similarity of patterns at 4 to 9 years; both groups have microbrachycephaly, but the individual dimensions of the mild group are slightly closer to normal than their classical counterparts. The correlation coefficient is high (0.83). In the adult groups, similarity of patterns remains but is less marked. The normalisation of scores in the mild group is more dramatic. The correlation coefficient is lower (0.71). These objective findings substantiate clinical impressions of a phenotypic dichotomy. Early in life, the craniofacial features in mild de Lange syndrome may be indistinguishable from the classical phenotype and alternative discriminators must be sought in order to identify those subjects in whom the prognosis is more optimistic. Birth weight of more than 2500 g and absence of major limb anomalies may help in this regard.

Adolescent↗
PubMed1997

Interstitial duplication of the short arm of chromosome 2: report of a new case and review.

An 18 month old girl was referred to us because of dysmorphic features and psychomotor and growth retardation. On physical examination, she was found to have microcephaly, open fontanelles, a prominent forehead, a flat occiput, hypertelorism, sparse eyebrows, a small nose with a depressed nasal bridge, a bulging philtrum, a thin upper lip, a high arched palate, low set and posteriorly rotated ears, a small mandible, a short neck with a low hair line, and eye malformations. High resolution chromosome analysis identified a de novo direct duplication of the 2p21.00-->p24.2 region. The phenotype of de novo partial trisomy 2p is discussed.

Adult↗
PubMed1988

A study of facial expression in Parkinson's disease using a novel microcomputer-based method.

The aim of this study was to compare the smiling behaviour of a group of Parkinson's disease sufferers with a control group of a similar age using a novel microcomputer-based approach, which utilises a mathematical model of the face to quantify facial expression. The findings indicate that the Parkinson's group differed from the control group in the frequency of smiling while watching a series of cartoons and in the degree of mouth opening during smiling. Both groups completed the Levine-Pilowsky Depression questionnaire, and patients with Parkinson's disease had significantly higher depression scores than those of the control group. Significant negative correlations between depression score and frequency of smiling, and depression score and inner eyebrow separation were also found.

Aged↗
PubMed2004

Needling of the extra 1 point decreases BIS values and preoperative anxiety.

Acupuncture has anxiolytic effects. We investigated the effect of acupuncture on the Bispectral Index (BIS) values and anxiety. Fifty patients were randomly assigned to group A to receive acupuncture for 15 minutes on the extra 1 point (yintang) or to group C, where they received the same treatment on a control point located 2 cm lateral to the end of the right eyebrow. BIS values were recorded before acupuncture; during acupuncture every 30 seconds for 15 minutes and every 30 seconds for 90 seconds when the acupuncture treatment was accomplished. Anxiety level was assessed before and after acupuncture by a verbal score scale (VSS) (0 = no anxiety, 10 = worst anxiety). BIS values were significantly decreased during acupuncture when applied on the extra 1 point (p = 0.0001) but not on the control point. Acupuncture application significantly decreased the VSS values within the A group (p = 0.027) and in the C group (p = 0.0001), when compared to the baseline (pre-acupuncture) VSS values. However, no differences were found between the two groups regarding BIS or VSS values. In conclusion, needling the extra 1 point preoperatively significantly decreases the BIS values and the VSS for anxiety but needling of a control point decrease only VSS values.

Acupuncture Points↗
PubMed2003

Upper and lower face and ideomotor apraxia in patients with Alzheimer's disease.

INTRODUCTION: Apraxia of face movement in Alzheimer's disease (AD) has been rarely investigated. This study aimed at investigating the frequency of lower (mouth, tongue and throat) and upper (eyes and eyebrows) face apraxia, in AD and its relationship with limb apraxia and severity of dementia. METHODS: Fifty seven patients with AD were tested with a new standardised test of face apraxia including upper and lower face movements, which uses an item-difficulty weighted scoring procedure, the IMA test, a test of ideomotor apraxia and the M.O.D.A., a means to assess dementia severity. RESULTS: Thirteen (23%) and 19 (33%) participants were below cut-off respectively on the upper and lower face apraxia test. Both sections of the Face Apraxia Test correlated significantly with the Ideomotor Apraxia Test. However, double dissociations between different types of apraxia were observed. Both the upper and lower face apraxia tests correlated significantly with the measure of dementia severity. CONCLUSIONS: The finding show that a proportion of AD patients fails face apraxia tests. Their face apraxia is interlinked with ideomotor limb apraxia, although dissociations are possible. Severity of dementia deterioration accounts for a good proportion of the variability of AD patients' performance on face apraxia tests.

Aged↗
PubMedDate not supplied

Numerous transorbital wooden foreign bodies in the sphenoid sinus.

A very rare case of numerous transorbital wooden foreign bodies penetrating into the sphenoid sinus in a 47-year-old male is reported. His right eye was nonreactive to light, and the oculomotor, trochlear and abducens nerves were completely disturbed. Although a minor injury was observed on the inner side of the right eyebrow, the wound was not serious or infectious. Computed tomographic scanning of the orbit and parasinus revealed an isodense linear shadow to muscle and an irregular shadow of the lamina papyracea. However, the findings were difficult to discriminate from an optic canal fracture preoperatively. We detected foreign bodies penetrating the optic nerve rise, which were successfully removed in combination with an endoscopic transethmoidal and transorbital approach. Various and careful imaging examinations are recommended to diagnose and manage paraorbital trauma, when a penetrating wound of the face is observed.

Blindness↗