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[Surgical treatment of traumatic madarosis].

Traumatic madarosis is a cosmetic and anatomo-functional problem. Besides the repair of the eyelashes proper, the clinical status of the patient requires repair of the carcass of the damaged eyelid in order to prevent lagophthalmos. The technique of transplanting a free hairy graft from the eyebrows is described. The results of treatment were assessed by the following parameters: the flap taking in, thickness and direction of the new lashes growth, and stability of the eyelid. Complete healing of the graft and stability of the eyelid were attained in all the cases. Good thickness of the eyelashes and the ideal direction of their growth were more difficult to achieve. The causes of failures are discussed. Despite the shortcomings, the method of treating traumatic madarosis proved to be effective and is recommended for clinical use.

Evaluation Studies as Topic↗

Rejuvenation of the upper face. A logical gamut of surgical options.

The prime objective of forehead rejuvenation is to correct the factors that accentuate the impression of aging, namely, eyebrow ptosis, glabella frown lines, forehead wrinkles, and asymmetry. Options for forehead rejuvenation are undergoing a renaissance. With the wide variety of choices currently available, accurate analysis of the presenting problem is mandatory so that the appropriate surgical technique can be chosen. The less invasive endoscopic procedures have a low morbidity rate and great patient satisfaction. Not all patients are candidates for these procedures, however. A thorough knowledge of alternative methods, including botulinum injection, fat injection, fat grafting, and subcutaneous approaches to the brow, are necessary if optimal aesthetic results are to be accomplished. Having an armamentarium of forehead rejuvenation techniques is, therefore, the key to individualizing treatment for each patient.

Adipose Tissue↗

Endoscopic facial rejuvenation.

The use of an endoscope is a reliable way to perform facial rejuvenation, to correct eyebrow imbalance, periorbital and malar soft-tissue sagginess, and soft-tissue displacement in the lower face and neck. It allows great magnification and tissue dissection control while observing in situ tissue modification and the immediate results. In mild cases of brow ptosis without muscle hyperactivity, wide undermining and fixation can be a simple way to achieve a good result. When hyperactivity of the muscles is present with or without brow ptosis, a more complex procedure can be done, which requires the treatment of the appropriate musculatures. The result are comparable to those achieved with the open approach with the advantage of a shorter scar, minimal permanent numbness, and much better patient acceptability.

Adipose Tissue↗

Familial patent ductus arteriosus: a further case of CHAR syndrome.

We report on a family with patent ductus arteriosus, a distinctive facial appearance with eyebrow flare, a short nose and "duck-bill lips," polydactyly, and fifth finger clinodactyly. The facial traits were consistent with CHAR syndrome. We provide further evidence for evolution of the phenotype with age and describe the previously unreported finding of interstitial polydactyly in this syndrome.

Abnormalities, Multiple↗

Brachytelephalangy with mental retardation, peculiar face and short stature in two sibs. A new MCA/MR syndrome?

A new MCA/MR syndrome?: Two sibs are described who shares as clinical features microcephaly, short stature, deep set eyes, thick eyebrow, straight long nose with prominent bridge, septum extending below alae nasi, short philtrum, small mouth, high palate, prominent everted lower lip, and brachytelephalangy. To the best of our knowledge, this association has not been reported before.

Abnormalities, Multiple↗

Visual recovery after recurrent rupture of the globe: case report.

A 42-year-old man was injured twice in his left eye. The first injury resulted in a lacerated skin wound on the forehead, eyebrows and lids, a broken orbital wall and rim, and a small rupture of the sclera at 12 o'clock. The second injury caused a rupture of his left globe. During the operation a large scleral rupture, 1 mm from the limbus, a prolapsed iris, vitreous, and the lens were found under the conjunctiva. The would had been cleaned, the prolapsed iris and vitreous were excised, and the scleral wound sutured. One year after the injury the visual acuity was 6/10 with an aphakic contact lens correction and binocular vision was established. Diagnostic features and indications for immediate repair are discussed.

Adult↗

[Syphilis in an HIV-infected patient].

We report the case of a 28-year-old female prostitute, intravenous drug user, seropositive for human immunodeficiency virus and with unusual manifestations of lues infection. The presence of plantar keratoderma, alopecia of the scalp, total loss of hair eyebrows and eyelashes with bilateral chorioretinitis is emphasised. Non-treponemal and treponemal tests for syphilis showed reactivity, but with abnormal serologic expression. The possible relationship between H.I.V. infection and the natural course of syphilis is discussed.

AIDS-Related Opportunistic Infections↗

Ectodermal dysplasia: a review and case report.

Ectodermal dysplasia is a hereditary disease characterized by a congenital dysplasia of one or more ectodermal structures and their accessory appendages. Common manifestations include defective hair follicles and eyebrows, frontal bossing with prominent supraorbital ridges, nasal bridge depression, and protuberant lips. Intraorally, common findings are anodontia or hypodontia, conical teeth, and, consequently, generalized spacing. The patient may suffer from dry skin, hyperthermia, and unexplained high fever as a result of the deficiency of sweat glands. The present review focuses on the clinical manifestations, classifications, and diagnosis of ectodermal dysplasia. A 6-year-old girl, described in the case report, exhibited many of the manifestations of ectodermal dysplasia as well as behavioral problems and a severe gag reflex. The treatment to improve her appearance and oral function included a removable prosthesis, acid-etch-retained indirect resin composite veneers, and a fixed partial denture.

Anodontia↗

[Brachmann-de-Lange syndrome in our population: clinical and epidemiological characteristics].

INTRODUCTION: We present the study of the clinical and epidemiological characteristics of Brachmann-de Lange syndrome in our population. PATIENTS AND METHODS: In this study we present the analysis of 13 cases of Brachmann-de Lange syndrome identified among 24,696 infants with congenital defects registered by the Spanish Collaborative Study of Congenital Malformations (ECEMC) between April 1976 and June 1996. RESULTS: The minimum estimation of the prevalence in our population is 0.97 per 100,000 live births. We have epidemiologically confirmed the presence of intrauterine growth retardation and have observed that parental ages tend to be relatively young. We have observed a wide range of clinical expression of this syndrome. One hundred percent of our cases have limb reduction defects, followed in frequency by craniofacial alterations (84.62%), abnormal hair distribution (76.92%) and genital defects (69.23%). Upper limbs are predominantly affected and one case of diaphragmatic hernia is worth mentioning. We underline the importance of the differential diagnosis with Fryns'syndrome. CONCLUSIONS: The cases studied correspond to the most severe form of the syndrome, reason for which the prevalence is a minimal estimate. However, the mild forms of the syndrome are more frequent and it is important to consider that the face, especially the form of the eyebrow, could be a good guide for the diagnosis of mild forms of the syndrome.

De Lange Syndrome↗

Hepatitis and bone destruction as uncommon manifestations of early syphilis. Report of a case.

We describe a patient with a painful lytic lesion of the clavicle and a granuloma of the liver in late secondary syphilis. The classic "moth-eaten" alopecia of the scalp as well as eyebrows and eyelashes suggested syphilis, although an initial false-negative VDRL test for syphilis (prozone phenomenon) caused a delay in diagnosis. Bone as well as liver involvement in early syphilis may be more common than previously recognized.

Adult↗

Interstitial Dup(1p) with findings of Kabuki make-up syndrome.

We describe a male patient with interstitial duplication of the short arm of chromosome 1 with breakpoints involving 1p13.1 and 1p22.1. The patient presented with some clinical findings of Kabuki make-up syndrome (KMS), including mental retardation, small head, eversion of the lateral part of lower eyelids, epicanthic folds, lateral flare of the eyebrows, short columella, and persistent fetal finger pads. This cytogenetic finding may provide clues for gene mapping of the syndrome.

Abnormalities, Multiple↗

[X-linked adrenoleukodystrophy--2 case reports].

Cases of a ten-year-old boy with childhood cerebral adrenoleukodystrophy (ALD) and a 22-year-old youngster with adrenomyeloneuropathy (AMN) are reported. ALD is an inherited, X-linked perixisomal disorder associated with the accumulation of very long chain fatty acids (VLCFA). Neurological symptoms occur due to progressive demyelination and destruction of cerebral white matter and primary adrenal insufficiency. The boy with ALD manifested neurological signs (impaired spatial orientation, visual disturbances, poor handwriting, seizures). Latent primary adrenal insufficiency was established, and successfully treated by gluco- and mineralocorticoids. Lorenzo's oil (mixture of glyceroltrioleate:glyceroltrierucate 4:1) treatment significantly reduced elevated concentrations of VLCFA, but in spite of that, neurological symptoms progressed and the boy died a year after the initial clinical presentation of the disease. The boy with AMN revealed primary adrenal insufficiency at the age of 15 years. AMN was suspected when hair and eyebrows loss occurred and the diagnosis was established due to elevated VLCFA levels in the serum at the age of 22 years. On examination no neurologic signs of the disease could be detected. Adrenal insufficiency is well controlled by gluco- and mineralocorticoids. In addition to the previously described two women who were symptomatic heterozygotes we now also report on two patients with ALD and AMN. The patients reported are the first four with this peroxisomal disorder described in Croatia so far. Probably a great number of such patients remains unrecognised. Therefore, it is necessary to measure the serum VLCFA levels in males with primary adrenal insufficiency, and in those with signs of progressive central demyelination and destruction of cerebral white matter accompanied by neurological symptoms of unknown etiology.

Adrenoleukodystrophy↗

Wiedemann-Rautenstrauch syndrome. A case report and review of the literature.

In 1977 Rautenstrauch and Snigula reported on two sisters with a previously undescribed, progeria-like syndrome. Two years later Wiedemann described two unrelated males with the same condition. Since than only a few published cases appeared in the literature. We had the opportunity to study a boy affected by this extremely rare condition. This boy was born after intrauterine growth retardation. At birth two natal teeth were present. OFC was normal despite apparent macrocephaly. During infancy a progeroid appearance was noted with sparse hair, prominent scalp veins, greatly widened anterior fontanelles, malar hypoplasia, and generalized lipoatrophy. The face was triangular with a small maxilla and a protuding chin, the eyes were low-set, the eyebrows and eyelashes were scanty. At the age of 3.5 years there was striking general deficiency of subcutaneous fatty tissue apart from accumulation of adipose tissue on the buttocks and flanks, growth was retarded, mental development was at the low borderline of normal. Cholesterolemia was at the upper range of normal, there was an increase of triglycerides: 3.31 mmol/L (Normal < 1 mmol/L). Other progeroid syndromes such as Hutchinson-Guilford, Berardinelli-Seip, De Barsy, leprechaunism, Cockayne and Hallerman-Streiff could be excluded as well as the CDG syndrome. This condition is most probably inherited as an autosomal recessive trait.

Abnormalities, Multiple↗

Optimal electrode placement in facial nerve conduction study.

This study was designed to determine the optimal sites for the active electrode in a nerve conduction study of each branch of the facial nerve. Twenty healthy male and female volunteers between 20 and 40 years old were investigated. Our criteria for the optimal site of the active electrode were initial negative deflection and maximal amplitude of the response and the most synchronized response. Optimal sites were found to be as follows: 1. Frontalis (temporal branch): a point midway between the hairline and the eyebrow along a line passing vertically through the pupil. 2. Orbicularis oculi (zygomatic branch): the medial quarter between the medial and lateral canthus. 3. Nasalis (buccal branch): muscle belly. 4. Triangularis (mandibular branch): 15 mm lateral and 25 mm below the corner of the mouth. 5. Orbicularis oris (zygomatic, mandibular and buccal branches): 2 mm below the lower lip midway between the midline and the corner of the mouth.

Adult↗

Rapp-Hodgkin syndrome with palmoplantar keratoderma, glossy tongue, congenital absence of lingual frenum and of sublingual caruncles: newly recognized findings.

We report on a boy with Rapp-Hodgkin syndrome (RHS) or Rapp-Hodgkin ectodermal dysplasia. He had sparse, wiry, slow growing and uncombable hair, but no pili torti or pili canaliculi characteristic of RHS. He also had sparse eyelashes and eyebrows, and obstructed lacrimal puncta and epiphora. Bilateral bony external auditory canal stenosis led to hearing loss. The mouth was small with repaired bilateral cleft lip and palate. Oral manifestations included hypodontia, microdontia, unerupted mandibular premolars with well formed roots, large dental pulp spaces, enamel hypoplasia, multiple caries, glossy tongue, and congenital absence of lingual frenum and of sublingual caruncles including submandibular and sublingual salivary duct openings. Palmo-plantar keratoderma, unerupted premolars, congenital absence of lingual frenum, sublingual caruncles, glossy tongue, and pili canaliculi seen in the patient are newly recognized findings of this syndrome. Overlapping findings of RHS ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC), and ankyloblepharon-ectodermal defects-cleft lip and palate syndrome (AEC) are discussed.

Carbuncle↗

[Botulinum toxin and facial wrinkles: a new injection procedure].

One of the limitations to the use of botulinum toxin is the risk of diffusion of its action to adjacent muscles. This study shows that this diffusion can be limited by increasing the toxin concentration, controlling the angle of the needle and limiting bleeding due to the injection by digital pressure and by the addition of adrenaline to the physiological saline used to dilute the toxin. A 0.5 ml syringe with integrated needle is used. As a result of these various elements, the zones of action of botulinum toxin are more precise and correspond to those of frontal endoscopy. Forehead wrinkles can therefore be reduced in combination with harmonious eyebrow elevation. The risks of ptosis are decreased, and problems related to muscle atrophy are minimized.

Botulinum Toxins↗

M-plasty in the treatment of carcinomas located on the interglabellar region.

One of the main tasks of current cutaneous surgery is to completely eliminate the tumor while avoiding unnecessary normal tissue extirpation. This is especially important when removing facial tumors close to the external canthus, mouth angles and perialar regions. In all these areas we advise fusiform excision but with distal M-plasty in the nearest angle so as to avoid angle retraction. The same is true for mediofrontal tumors, as this often causes a drawing together of the eyebrows. We have reviewed all mediofrontal excisions carried out during the last six years. M-plasty following fusiform excision was always performed in the interglabellar area. The good results achieved allow us to recommend this technique in this location.

Adult↗

Microcystic adnexal carcinoma: a report of three cases.

Microcystic adnexal carcinoma is an uncommon adnexal neoplasm. It is highly aggressive locally and its importance lies in the fact that it can be easily confused with benign adnexal tumours, particularly desmoplastic trichoepithelioma, trichoadenoma and syringoma. We report three cases of microcystic adnexal carcinoma of the skin, all three being on the face: two on the lips and one on the left eyebrow. Clinically, the neoplasms were slow growing indurated nodules or plaques. Two of the cases displayed benign features on initial biopsy and their malignant potential could not be established at that stage. On subsequent review, the three neoplasms showed all the characteristic features of microcystic adnexal carcinoma as described by Goldstein et al. and the University of Virginia study. All three patients were treated by surgery in the form of wide excision. They behaved in a highly locally malignant manner with excisions being incomplete in two of the lesions, in spite of taking an adequate margin around the clinically assessable margins. The other recurred after three years in spite of a histologically proven complete excision. Two of the tumours showed infiltration into the underlying muscle with perineural spread. Wider excision in the next stage with frozen section control achieved good clearance and after a five year follow-up period all are symptom free. None of these tumours showed any evidence of distant spread.

Aged↗