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PubMed1980

[Metaphyseal chondrodysplasia of the McKusick type (cartilage-hair hypoplasia)].

Cartilage-Hair-Hypoplasia is a rare form of metaphyseal chondrodystrophia. Its clinical picture is characterized by dysproportionate deficient growth shift to length of upper part of the body. The hair diameter is reduced, and the eyebrows are defectly marked. After stimulation by insulin, the levels of somatotropic hormone are found in the acromegalic range. The bone structure is rarefied at the distal metaphyses of the metacarpals and the proximal metaphyses of the finger basal phalanges. The most important roentgenologic symptoms to be found are clowdy, cystic rarefactions at the distal femoral metaphyses. As to the pathophysiology, deficient proliferation of cartilaginous cells is mentioned in literature.

Cartilage Diseases↗
PubMed1980

[X-linked dominant chondrodysplasia punctata (author's transl)].

Chondrodysplasia punctata displays genetic heterogeneity. The differentiation between the rhizomelic type and the Conradi-Hünermann type is well known. In 1977, an X-linked dominant form was described as a third type. The syndrome of X-linked dominant chondrodysplasia punctata includes skeletal, ocular and cutaneous anomalies with asymmetric involvement of the body. The cutaneous signs and symptoms are characteristic: congenital ichthyosiform erythroderma with linear and patchy hyperkeratoses; ichthyosis in the older child; linear and blotchy atrophoderma mainly involving the hair follicles; circumscribed alopecia; coarse, lusterless and irregularly twisted hair; sparse eyebrows and lashes that grow in various directions; flattened nail plates and onychoschizia. A further case of X-linked dominant chondrodysplasia punctata is reported. The ratio of females to males is so far 40:0. Apparently, the underlying gene defect is lethal in male embryos. The linear and patchy pattern of skin lesions reflects functional X-chromosome mosaicism.

Abnormalities, Multiple↗
PubMed1995

Aesthetic restoration of the severely disfigured face in burn victims: a comprehensive strategy.

Although highly specialized burn centers have significantly reduced mortality rates following extensive total body surface area burns, survivors are often left with grotesque facial disfigurement. The strategy of modern facial restoration emphasizes enhancement of aesthetic appearance as significantly as mitigation of functional impairment. Criteria for success are (1) an undistracted "normal" look at conversational distance, (2) facial balance and symmetry, (3) distinct aesthetic units fused by inconspicuous scars, (4) "doughy" skin texture appropriate for corrective makeup, and (5) dynamic facial expression. Since 1985, the author has successfully restored 17 severely disfigured burned faces by replacement of entire aesthetic units with microvascular "prepatterned" composite flaps blended into the facial canvas by cosmetic camouflage techniques. The series includes hemiface (2), neck/jaw (5), chin/lower lip (3), cheek/malar (5), peri-orbital (2), nose (3), upper lip (4), and ear reconstructions (4). Flaps represented are free preauricular (1), radial forearm (6), ulnar forearm (1), free scapular (6), ilio-osteocutaneous (2), temporoparietal (8), vascularized forehead island (3), supraclavicular (1), and SMAS (1). Important to outcome is extensive initial intraoperative "sculpting" to simulate normal planes and contours. Seams are placed at junctions of facial components. Three-dimensional imaging is used to assess architectural asymmetries, and bone grafts are aided by computer-generated acrylic models. Adjunctive procedures include tensor fasciae latae slings, intraoperative tissue expansion, suction-assisted lipectomy, and scar management. After restoration of facial form and texture, flesh color make-up and/or tattooing of beard, lips, scars, eyebrows, etc., aid to hide scars and pigment the skin to harmonize with the rest of the face. In all cases, facial integrity has been aesthetically restored and, in most instances, with makeup, is near normal in social settings at conversational distances. Facial animation is retained and color matches are excellent. One flap was lost early in the series.

Adolescent↗
PubMedDate not supplied

[The "Fantasy Island" syndrome. Identification of a new osteochondrodysplasia probably of autosomal dominant type].

Clinically, two unrelated patients, an adult male and a female child, coming from non-consanguineous parents, presented dwarfism, peculiar facies, with blepharophimosis, mongoloid slanted eyes, abundant eyebrows and eyelashes, harsh voice and short hands and feet. Radiologically, they presented brachymetacarpalia, brachymetatarsalia, and brachyphalangia of all fingers and toes, shortened and broadened long bones with normal morphology, hypoplastic pelvis and shape anomalies of the vertebral bodies. The clinical and radiological concordance and the differential diagnosis, mainly with acromicric dysplasia, allow the characterization of a distinctive osteochondrodysplasia probably due to an autosomal dominant mutation.

Adult↗
PubMed1995

[Secondary surgical restoration of contours and volumes of facial burns].

Recent progress in plastic surgery techniques have clearly contributed to the improvement of the aesthetic prognosis of facial burns. However, although current excision-graft techniques achieve good quality skin, often in sufficient quantity, these grafts give the face a fixed, inexpressive, flat mask appearance, du to the inevitable phenomena of scar retraction. To palliate this unsightly appearance of the grafted face, the authors restore the principal facial relief (eyebrows, cheekbones, nostrils, philtrum, lips, chin) by using, depending on the particular case, subperiosteal parietal bone grafts, or flaps of scar tissue grafted immediately or secondarily. The authors report their experience and describe the techniques, indications, as well as the advantages and disadvantages of these various procedures.

Burns↗
PubMed1995

Clinical profile, comorbidity, and treatment history in 123 hair pullers: a survey study.

BACKGROUND: Trichotillomania, characterized by an irresistible urge to pull one's hair, may be more prevalent than previously believed. Despite increasing attention devoted to this topic in the recent literature, there are few studies based on large samples that are potentially generalizable to a community population. METHOD: Surveys addressing clinical profile, comorbidity, and treatment history were mailed to all responders to a nationally distributed magazine article on trichotillomania. Out of 772 surveys sent, 123 completed surveys were returned. RESULTS: While there was a predominance of females in the whole sample, female-to-male prevalence was lower in children than adults. Onset was predominantly in childhood (mean age = 11 years), most frequently in middle childhood and least frequently before age 6. Subjects pulled hair from a variety of sites, including scalp, eyelashes, eyebrows, pubic region, face, and body, but the highest incidence and severity involved scalp hair. Children under 6 were more likely than other age groups to pull scalp hair and possibly less likely to pull other hair. In adults, symptom profile was not associated with age at onset. While subjects reported high rates of comorbid conditions in both self and family, trichotillomania was reportedly formally diagnosed in only 40% of the subjects. Although subjects reported a range of treatments, the majority (58%) reported no treatment history. Finally, only minimal improvement was reported for all modalities, with no significant difference in response to psychotherapy, behavior therapy, clomipramine, or fluoxetine. CONCLUSION: Trichotillomania is a chronic illness that may be difficult to treat. Controlled studies on comorbidity, epidemiology, treatment-seeking patterns, and long-term treatment response are needed.

Adolescent↗
PubMed1994

Peters'-Plus syndrome: report on an unusual case.

We report on a 10 1/2-years-old patient with clinical manifestations of Peters'-Plus syndrome. The patient had Peters' anomaly, slightly arched eyebrows, long eyelashes, a broad nasal tip; malformed and prominent ears, cleft lip and palate, brachydactyly, fingertip pads, severe growth deficiency, and mild mental retardation. Peters' anomaly is a defect of the anterior chamber of the eye, including central corneal opacity, thinning of the posterior aspect of the cornea and iridolenticulocorneal adhesions. Peters'-Plus syndrome is a disorder in which patients with Peters' anomaly are also found to have short stature, brachymedia, abnormal ears, cleft lip and palate, and mental retardation. Our patient showed Peters'-Plus syndrome associated with some clinical manifestations of the Kabuki make-up syndrome.

Abnormalities, Multiple↗
PubMed1995

Trichotillomania: ophthalmic presentation.

PURPOSE: A case of trichotillomania, or compulsive hair-pulling, involving the eyelids is presented to alert ophthalmologists to this common, but frequently overlooked cause of eyelash and eyebrow alopecia. METHODS AND RESULTS: Clinical records of a 33-year-old woman suffering from trichotillomania were reviewed. Compulsive hair-pulling began in childhood and had become chronic. Psychiatric intervention was unsuccessful. CONCLUSIONS: The diagnosis of trichotillomania is made on history and slit-lamp examination findings. A skin biopsy may be necessary to exclude alopecia areata. Adults should be referred to a psychiatrist. Although childhood disease is usually benign, often reflecting a disturbed parent-child relationship, in adults hair-pulling is generally chronic and associated with psychiatric illness.

Adult↗
PubMed1994

[Congenital atrichia with cysts].

INTRODUCTION: Congenital atrichia with papular lesions is a rare congenital ectodermic dysplasia. CASE REPORT: A male child had atrichia of the scalp and eyebrows from birth. The atrichia was associated with epidermic cystic lesions of the scalp. Biopsy showed cystic piler follicles within the derma surrounded with an inflammatory infiltration of multinucleated giant cells. DISCUSSION: In most reported cases, scalp hair is present at birth and then falls within the first three months of life. Follicular cysts appear later. This syndrome generally occurs sporadically and the mode of inheritance is unknown.

Alopecia↗
PubMed1995

Surgical anatomy of the facial nerve.

(1) The temporal branch of the facial nerve emerges within the parotid gland to cross the zygomatic arch at the deep surface of the temporoparietal fascia. The nerve is separated from the deep temporal fascia immediately above the zygomatic arch by a loose areolar plane; this plane may be obliterated when previous surgical procedures have been performed in this region. (2) The temporal branch can be found within a trajectory that has been described relating the lower portion of the auricle to the lateral aspect of the eyebrow. However, one must be aware that these surface landmarks may vary with respect to the underlying skeleton and from one individual to the next. (3) Recent studies indicate that the temporal branch consists of not one, but multiple rami that cross the zygomatic arch. Because there are multiple rami to the temporal branch of the facial nerve, any single trajectory can describe only a portion and not the entirety of the temporal branch. (4) The zygomatic, buccal, and marginal mandibular branches of the facial nerve innervate the mimetic muscles of the face from either their superficial or deep surfaces. Several mimetic muscles are innervated by two or more branches of the facial nerve. (5) Interconnections between the zygomatic and buccal branches are noted in over 70% of cases, whereas interconnections between the temporal or marginal mandibular branches to other facial nerve branches occur in less than 15% of cases. (6) The zygomatic, buccal, and marginal mandibular branches lie in intimate relationship with the retaining ligaments of the face. Surgical dissection for release of the zygomatic ligament, the masseteric cutaneous ligament, or the mandibular ligament should be performed meticulously and with extreme caution.

Facial Nerve↗
PubMed1995

[Variants in using the tubed pedicle in restorative operations on the face and the organs of the oral cavity].

This article is based on 83 histories (89% male, 11% female) of patients who were operated for penetrating or superficial maxillofacial defects and deformations. 293 step-by-step operations were conducted using the bucket-handle graft in combination with nearest tissues. Age of patients: from 18 to 65. The Filatov-Gillies tubed pedicle was used as a carrier for hair-covering chin grafts which were implanted into de-epidermized zones during the formation of eyebrows in supraorbital areas. Bucket-handle graft was also used for reconstruction of lips, including vermillion border. The article contains the history and a photo of a woman who was operated for basaloma of nose and upper lip. After the destruction of a new growth by cryogenic method the plasty of upper lip and vermillion border was carried out with the help of one Filatov-Gillies tubed pedicle. The healing of wounds have proceeded without complications in 93.9 +/- 1.4% of cases. In 2 patients a partial necrosis of graft took place. One graft was removed. The divergence of stitches was marked in 15 (18%) of patients. Nevertheless it did not influence upon the outcome of reconstructive treatment.

Adolescent↗
PubMed1995

[Eyelid and lacrimal abscesses].

Nonspecific eyelid abscesses are rare, whereas periorbital infections occur more frequently. Localisation of a maximum number of inflammatory signs is essential for diagnosis. A superior external localisation suggest dacryoadenitis or infection of a dermal cyst and the end of the eyebrow. An internal canthal localisation would reflect lacrimal disorder. In the adult, the main cause of infection is acute dacryocystitis. After antibiotic and anti-inflammatory drug treatment, dacryocystorhinotomy is necessary to preclude recurrence. In the newborn, bilateral forms of dilatation of the lacrimal sacs can lead to respiratory distress. The treatment of choice is resection of the endonasal pouches.

Abscess↗
PubMed1994

[The surface anatomic observation of cerebral porecentral and postcentral gyrus for scalp acupuncture].

10 heads of adult cadaver were used for investigation of the motor and sensory area of scalp acupuncture. The results are as follows: both the surface anatomy of precentral and postcentral gyrus were not exactly match with the motor and sensory area described in acupuncture textbook respectively. They were backward. Among them, the upper points were 0.5cm backward to motor area and 1.0cm to sensory area, the lower point of precentral gyrus was 1.0cm posterior to the intersecting point of the eyebrow--occiput line and the anterior border of the natural line of the hair at the temple, while the lower point of postcentral gyrus is 2.4cm posterior to the intersecting point above described. Therefore, the authors suggested that the motor and sensory area of the scalp acupuncture should be backward and recommended: take the point 1.0cm and 3.0cm posterior to the midpoint of anteroposterior midline as the upper point of motor and sensory area respectively, 1.0cm and 2.0cm posterior to the intersecting point above described as the lower point respectively. In this way, the motor and sensory areas are better matched with precentral and posrcentral gyrus than before (P < 0.05).

Acupuncture Points↗
PubMed1995

[Exposure of personnel in interventional radiology].

The surface dose at five typical positions around the patient couch was measured during transjugular intrahepatic porto-systemic stent shunt (TIPSS) interventions for retrospective calculation of staff dose. Additionally, the surface dose was measured on three members of staff (two radiologists and one technician) by placing thermoluminescence (TL) dosimeters directly on the eyebrows, thyroid, sternum, gonads, hands, knees, and feet. The measured surface dose values and the TL dosimeter measurements are used for estimation of effective dose per examination received by personnel. The effective dose for the radiologists is calculated to 25-35 microSv. The maximum number of examinations allowed per year is calculated on the basis of a given yearly dose limit, by looking at organ dose and effective body dose.

Female↗
PubMed1994

[Segregation analysis of certain anthroposcopic characteristics. I. Alternative signs with penetration independent of age].

Genetic analysis of a number of anthroposcopic traits was attempted using a sample of pedigrees from the Kirgiz population. We used methods of binary trait segregation analysis, which allowed us to analyze pedigrees of arbitrary structure. The genetic model applied was based on the monogenic diallelic mode of inheritance with arbitrary genotype penetrances and allowed for different phenotypic expressions of a genotype in males and females. The hypothesis of monogenic diallelic inheritance could not be rejected for the following 12 traits: ability to roll the tongue, earlobe, auricular tubercle, nose shape, base of the nose, accreted eyebrows, fold of the upper eyelid, margin of the auricle, vertex hair whorl, cheekbones, cheek dimples, and height of the nose bridge. Sex dimorphism was demonstrated for the latter five traits. Problems of the relationship between sample informativeness and precision of parameter estimation are discussed.

Aging↗
PubMedDate not supplied

[A gastric trichobezoar: a report of a clinical case with anomalous presentation].

The Authors describe a case of a voluminous trichobezoar in a girl 9 years old. The patient was referred for evaluation of abdominal pain that presented after a banal blunt abdominal trauma occurred some days earlier. On physical examination an epigastric mass was detected. For a few days the girl suffered of inappetence and postprandial vomit. She was noted to have thin and sparse hair, thin eyebrows and onychodysplasia: these findings were considered as features of cutaneous adnexa dystrophy. The blood test and other laboratory findings were within normal limits. Abdominal US and UGI series failed to detect the nature of the mass. Therefore the patient underwent gastroscopy that showed a voluminous trichobezoar, so big and hard that gastrotomy was required for removal. The weight of the mass was 700 g; it occupied the whole stomach from fundus to pylorus. Postoperative recovery was uneventful. After discharge the patient was referred to the Neuropsychiatric Service for treatment trichophagia and prevention of recurrence. The most common site of trichobezoar is stomach. Clinical findings are often aspecific. US and UGI series may not allow the correct diagnosis. A rational diagnostic suspicion can arise when alopecia circumscripta is present. Endoscopy remains the elective technique: this procedure can be contemporarily diagnostic and therapeutic. Surgical approach is required only in case of trichobezoar with peculiar size, shape and hardness. We feel that a neuropsychiatric support is necessary to avoid recurrence.

Bezoars↗
PubMed1994

[KID syndrome, pachydermatoglyphy and Dandy-Walker syndrome].

We report a case of KID syndrome in a young girl born to non-consanguinous parents without any similar family history. The typical features of this dysplasia, erythrokeratodermia with dry rugous teguments, pachydermia folds of the knees, facial erythema, peribuccal grooves, leucokeratosic perleche, hypotrichosis of the eye lashes and eyebrows, early onset deafness and ophtalmological lesions were observed. The characteristic pachydermatoglyphia of the hands was present. A malformation of the posterior cerebral fossa--a dandy walker syndrome--was revealed at computed tomography.

Abnormalities, Multiple↗
PubMedDate not supplied

Fraser syndrome.

Fraser Syndrome is a rare disorder with only a few cases having been described in Indian literature. We report here a case of a patient aged 16 yr present with primary amenorrhea which is a very unusual mode of presentation. Multiple associated anomalies were present including those of eyelids, eyebrow, face, fingers and genitalia. Chromosome analysis revealed a normal female karyotype. Pituitary gonadotropins were within normal range.

Abnormalities, Multiple↗