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At least 1,117 records · Page 62Linked to original sources
PubMed1978

[Trisomy 13qter by tandem duplication 46, XX, dir dup 13 (q21 qter), 9qh+].

A tandem translocation of chromosome 13-46,XXdup13(q21 leads to qter)--occurred de novo in a patient with the following features: normal birthweight; early feeding difficulties; mild psychomotor retardation; low set hairline on the forehead; thick eyebrows; long, upturned eyelashes; pointed nose; micrognathia; large, flat, posteriorly rotated ears; multiple hemangiomata; normal hematological status. The hypothesis of an unequal crossing-over is discussed, as well as the possibility of constructing a phenotypic map of chromosome 13.

Abnormalities, Multiple↗
PubMed1979

[46,XX/46,XX,del (10) (p13)/47,XX,+r/47,XX,del (10) (p13), + r mosaicism and partial trisomy 10p phenotype (author's transl)].

The mosaicism 46,XX/46,XX,del(10)(p13)/47,XX, +r/47,XX,del(10)(p13), +r was found in the lymphocytes and the fibroblasts of a patient with the following : profound mental retardation; craniofacial dysmorphism with frontal bossing, fine eyebrows, a large hypoplastic nasal bridge, prognathism of the upper jaw, thick lips; a long and thin neck; congenital heart disease; skeletal malformations, with club feet; and hypotonia and lax ligaments. These malformations, compatible with the trisomy 10p syndrome, suggest that the supernumerary ring chromosome was composed of 10p material. An increase of HK1 and GOT1 activities was found. This is in favour of a partial trisomy of chromosome 10. The relative frequencies of the clones constituting the mosaic vary from tissue to tissue and with time.

Abnormalities, Multiple↗
PubMed1986

Invasion of the mouse eye by Onchocerca microfilariae.

Onchocerca cervicalis microfilariae (mf) were injected s.c. into the scalp between the eyes of CBA/H mice. Invasion was followed by slit-lamp biomicroscopy and H & E stained serial sections at varying times post infection. The first mf observed were found 24 hr p.i. on the corneal surface in tear fluid. At 48 hr mf were observed actively swimming in the anterior chamber and by 3 d in the corneal stroma. Histologically mf appeared in orbital muscle connective tissue, subcutaneously in the eyebrows at the eyelid/conjunctiva junction from 6 hr p.i. By 12 hr some mf had moved into the suprascleral muscle junctions, the sclera and into the superior corneal stroma. By 24 hr mf were present in larger numbers in all these sites. Mf were found in all eyes up to 42 d p.i. No mf were seen in any sections of the retina or optic nerve. Rabbit antiserum raised to mf, used in an avidin-biotin immunostain to check whether mf might have been hidden within the retinal nuclear layers, revealed no mf although they were plainly seen in other ocular tissues. Retinal invasion was induced by injection of mf into the lateral tail vein: serial sections revealed mf associated with blood vessels in the sclera, suprascleral muscle blocks and inner plexiform layer of the retina from 5 min p.i.

Animals↗
PubMed1987

Hemifacial spasm. Results of unilateral myectomy.

Hemifacial spasm (HFS) is a disorder characterized by unilateral involuntary spasm of the muscles innervated by the facial nerve (cranial nerve VII). The etiology is often a redundant or ectatic artery in the cerebellopontine angle that compresses the facial nerve. Neurosurgical decompression with implantation of a sponge between the ectatic artery and the facial nerve produces good results, but has a high complication rate and a poor patient acceptance rate. Various modes of peripheral neurectomy have also been advocated, but the recurrence rate is high and the preexisting functional and cosmetic eyelid deformities are exacerbated. The results of unilateral periorbital myectomy in 21 HFS patients are presented. Follow-up ranging from 1 to 7 years was available on 16 patients. Excellent or good results were obtained in 94% of these cases, and postoperative complications were minor. Transient lymphedema and forehead anesthesia are the most common complications. An unforseen benefit of periorbital myectomy surgery is the improvement or relief of lower facial contractions that occurred in 75% of patients. The authors believe the myectomy procedure is a safe, effective, predictable therapy for those HFS patients unwilling to risk a neurosurgical operation, and allows simultaneous reconstruction of associated eyelid and eyebrow deformities.

Adult↗
PubMed1987

Rothmund-Thomson syndrome. A case report, phototesting, and literature review.

Rothmund-Thomson syndrome is a rare hereditary syndrome with developmental defects. Characteristics of this syndrome, based on a review of 107 reported cases in the literature, are (in descending order) as follows: early onset of poikiloderma, short stature, absence or sparseness of eyebrow and/or eyelash hair, familial juvenile cataracts, small hands and bone defects, sunlight sensitivity, hypogonadism, defective dentition, nail abnormality, hyperkeratosis, and mental retardation. Recently we encountered a 25-year-old white woman who had developed this syndrome but without juvenile cataracts, hypogonadism, or mental retardation. She had developed a basal cell epithelioma, which has not previously been described in this syndrome. Phototesting with monochromatic radiation and with a solar simulator showed photosensitivity in the ultraviolet A range but not in the ultraviolet B range. This case may represent an example of the Thomson type. The case is described and the literature reviewed.

Abnormalities, Multiple↗
PubMed1987

[Indirect measurement of residual internal carotid pressure by photoplethysmography during the carotid occlusion test].

A non invasive technique for measuring the systolic arterial pressure in the internal carotid artery during common carotid artery occlusion test is described. Its objective is to predict the efficiency of the collateral circulation through the circle of Willis during surgical carotid artery clamping. Photoplethysmographic curves were recorded on two facial areas supplied by the external carotid artery (earlobe and forehead above the center of one eyebrow). The residual carotid artery pressure during carotid clamping was estimated by considering the ratio of determined by the systolic brachial arterial pressure over the amplitude of the best photoplethysmographic curve obtained, multiplied by the amplitude of the photoplethysmographic curves recorded during the percutaneous compression of the common carotid artery. This method was verified on 15 patients (women: 6, men: 9) with carotid lesions, during carotid endarterectomy. The invasive measurement of the systolic pressure in the internal carotid during carotid clamping was compared with the calculated value. This comparison showed a highly significant correlation between the two values (p less than 0.001). Thus, a simple and non-invasive method of estimating the internal carotid systolic pressure during carotid clamping is described, so that the efficiency of the collateral circulation during this period may be assessed before surgery.

Blood Pressure Determination↗
PubMed1987

[Ulerythema ophryogenes and folliculitis ulerythematosa reticulata].

Three fundamental alterations characterize keratosis pilaris syndrome: follicular keratosis, vasodilatation and atrophy. Ulerythema ophryogenes and folliculitis ulerythematosa reticulata are types of the syndrome that localize on the eyebrows and cheeks and sometimes affect the ears and scalp. Punctuate atrophy and hair rarefaction may result. The patients frequently exhibit keratosis simplex as well. The clinical picture is considered to be an autosomal dominant genodermatosis and its treatment is ineffective.

Adolescent↗
PubMed1987

[Clinical and mycological study of 11 cases of genitopubic trichosporosis nodosa (white piedra)].

Piedra (stone in Spanish) is the name given to a trichomycosis characterized by the formation of nodules resembling small stones. There are two varieties of the disease, depending on the colour of the nodules: white piedra and black piedra. Black piedra sharply differs from white piedra on three main scores: a) the causative agent is a black filamentous and sexed dematicious fungus, Piedraia hortai; b) the disease exclusively affects the scalp, and c) the geographical distribution of human black piedra is limited to tropical and subtropical areas (South America, South-East Asia). White piedra has a different aetiology, being caused by an asexual fungus, Trichosporon beigeli. The genus Trichosporon (Behrend, 1890) and the species T. beigeli (Vuillemin, 1902) were created from a case of piedra of the moustache. White piedra may involve hairy regions other than the scalp, such as the beard and moustache, less frequently the armpits, eyebrows, eyelashes and pubic hair. The disease has been observed in all continents, except Africa, and under all climates, although it is exceptionally found in cold areas (two indigenous cases in Finland). The observatio princeps of white piedra (on a false chignon) was published in 1865 by Beigel, in London. In France, only three cases, all concerning the moustache, were reported at the very beginning of this century No other case has been published in that country in the east 80 years. T. beigeli is a common saprophyte in nature. It has been found in soil, water, fruit, rotten vegetables, sawdust, as well as in man (skin, skin appendages, mucosae) and in animals (mammals, insects, mussels).(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1986

[Suspension of the eyelid to the frontal muscle in the surgery of ptosis. Technic and indications].

Twenty seven frontalis sling procedures were performed with use of autogenous fascia-lata. The choice of this procedure was performed sometimes at the first stage for severe ptosis with poor levator function: isolated congenital ptosis, blepharophimosis syndrome, Marcus Gunn Jaw-Winking ptosis, ptosis with severe myopathy, some traumatic ptosis. This procedure was also performed in a second stage after failure of the useful procedures (levator resection) and after verification that the levator was not exploitable. Sometimes the choice of the procedure is done during the exploration of the eyelid and the levator because there is not always "parallelism" between the levator function and his anatomy. So operative technique must always be performed by a complete anterior palpebral approach, the surgeon can passed the suspensory material from the tarsus to the roof of the orbit, just anterior to the levator aponeurosis, and then out above the eyebrow. The pulley this created by the periosteum of the superior orbital margin prevents vertical traction lines. The skin crease is created with sutures which pick up the tarsus and the lid retractors. If, during the explorations the levator is "exploitable", a super maximum levator resection will be performed at the first stage, the frontalis suspension will be maintained in case of failure of the levator resection.

Blepharoptosis↗
PubMed1987

Treatment of blepharospasm with medication, surgery and type A botulinum toxin.

A total of 39 patients with essential blepharospasm and 2 patients with hemifacial spasm were treated with one or more forms of therapy. All patients underwent neurologic and ophthalmic assessment to rule out ocular causes of blepharospasm. Thirty-six patients were given a trial of various medications. Only one patient was successfully treated: her condition was markedly improved with pimozide after benztropine mesylate, clonazepam and amantadine hydrochloride had failed to help. Patients who did not respond to drug therapy were offered the option of undergoing eyebrow-eyelid muscle stripping surgery. The six patients who underwent surgery showed considerable improvement; however, side effects such as frontal anesthesia, exposure keratitis, lagophthalmus, scarring and eyelid malposition occurred, and three of the six had residual spasm. At this point type A botulinum toxin became available. A total of 27 patients (26 who did not respond to drug therapy, including the 3 with residual spasm after surgery, and 1 previously untreated patient) received type A botulinum toxin injections. Most experienced rapid relief from their spasms. The beneficial effects lasted weeks to months, and there were no major side effects. Treatment with type A botulinum toxin appears to be a safe and effective means of temporarily relieving blepharospasm. The long-term results with repeated injections are yet to be determined.

Baclofen↗
PubMed1979

[Double flap method in the frontal and temporal area to cover larger defects left by surgery].

Regional flaps are often necessary to cover defects left after operations in the forehead and temple area, since the skin of the scalp does not stretch well and because of the likelihood of dislocation of the eyebrow. We find the double advancement-flap technique using curving incisions of great use in this area. These curved flaps margins follow the wrinkles of the forehead and the relaxed skin tension lines. This contributes to easy healing and inconspicous scars. At the same time undersired facial asymmetry or disturbance of expression can be avoided.

Facial Asymmetry↗
PubMed1985

[Keratosis follicularis spinulosa decalvans (Siemens' syndrome) associated with other abnormalities].

Keratosis follicularis spinulosa decalvans (ichthyosis follicularis or Siemens's syndrome) is considered a general form of keratosis pilaris decalvans. Localized types are keratosis pilaris atrophicans and atrophoderma vermicularis. A case of this unusual process is presented. Clinical, histological and scanning electron microscopic studies of the hair were performed. Clinically, a generalized hypotrichosis with hyperkeratotic follicular plugs is observed; especially in the scalp and the eyebrows. Other interesting clinical findings were cutis hyperelastica, gingival hypertrophy, mongoloid palpebral fissures, big pinnae and clinodactyly of the 5th finger. From the histological point of view we observed follicular plugging, dystrophic pilosebaceous follicles, absence of sebaceous glands, perifollicular fibrosis and minimal lymphomonocytic infiltrate. Scanning electronmicroscopy shows a brittle hair with cuticular abnormalities. Siemens's syndrome can be considered a specific pilosebaceous dysplasia because the absence or hypoplasia of sebaceous glands; which produces follicular hyperkeratosis and pilar atrophy with perifollicular fibrosis and alopecia.

Abnormalities, Multiple↗
PubMed1985

[Cronkhite-Canada disease. Discussion apropos of a case and study of the pigmentation].

In 1955, Cronkhite and Canada described two patients presenting abnormal skin pigmentation, alopecia, onychodystrophy and gastrointestinal polyposis. In the first French case reported here, the skin pigmentation has been the object of a special electron microscope study. M. E..., 48-year old, developed, in 1968, pigmented maculae with a metallic gloss around his pelvic girdle. The melanoderma rapidly expanded, associated with fall of hair, body hairs and eyebrows. Onyxis and perionyxis of the right thumb, milium-like epidermal cysts, tumoral lesions of the keratoacanthoma type on the nose and scrotum and, chiefly, generalized cockade-like bullous erythema associated with buccal erosions soon completed the clinical picture. The bullae were subepidermal, and direct and indirect immunofluorescence tests revealed the presence of antibodies directed against the basal membrane area. A few years later, a gastrointestinal syndrome developed progressively, consisting of liquid diarrhoea (8-10 stools per day) with deterioration of the patient's general condition and loss of weight leading to cachexia and, ultimately, death. During periods when the gastrointestinal symptoms regressed the general condition improved, hair and hairs started growing again and pigmentation was less pronounced. Examinations of the digestive tract discarded a malabsorption syndrome. Endoscopy revealed the presence of false polyps with paved appearance of the colonic and rectal mucosae. The mucosa was congested, inflamed and strewn with ulcerations. Histology showed signs of acute proctitis. The abnormal skin pigmentation was the object of histological and ultrastructural analysis. Under the light microscope the epidermis was thicker than normally with increased melanin content. There was marked pigment leakage with numerous melanophages. At electron microscopy the melanocytes, more numerous, showed increased melanogenic activity.(ABSTRACT TRUNCATED AT 250 WORDS)

Alopecia↗
PubMed1986

[Reconstructive measures in burn injuries of the face and neck].

Parts of the face and the neck are often affected by thermal damage which results in particularly disfiguring scars. Movement of the facial muscles is severely impaired and symmetry as well as contouring of the face is distorted by scarred skin which is always of lesser quality. Particular problems arise when the trauma results in partial loss of facial structures like the nose, lips or eyebrows. Plastic surgical treatment of burnt areas requires thorough knowledge of various procedures for best possible rehabilitation. Burn scars of the facial and neck region were treated by using local flaps and free skin transplantation or combination of both. The indication for the various methods is discussed and demonstrated in our cases.

Adolescent↗
PubMed1971

Growth hormone investigation in patients with mental dysfunction.

Seventy-three children with disorders of physical growth and mental development were stimulated by insulin hypoglycemia and arginine infusion and their human growth hormone (HGH) responses were determined. Only four patients exhibited absent or impaired pituitary hormone secretion and one of them presented a unique syndrome of panhypopituitarism associated with intrauterine growth retardation, long eyelashes and eyebrows, sparse hair and degeneration of the retina. Statistical analysis indicated no significant HGH peak concentrations in groups of either tall males or stunted females who possessed various sex chromosome abnormalities, nor did these groups differ in a variety of clinical parameters including age, physical growth, birth weight and intelligence.

Adolescent↗
PubMedDate not supplied

[Noonan syndrome: differential diagnosis with Turner's syndrome].

Clinical and laboratory evidences assure an unequivocal identity to the syndrome described by Noonan. We believed that the terminology used by many authors has contributed to maintain confusion with Turner's syndrome from which it is clearly differenciated. The signology of both syndromes was confrontated in order to delineate the syndrome. Emphasis was made to point out the signs which are proper to each syndrome and the signs which are common to both of them stressing those that, occur with equal or significant difference. Two new signs are described in Noonan syndrome: alopecia of the hund portions of the eyebrows and keratosis rubra pilaris (Ulerythema ophriogenes).

Adolescent↗
PubMed1979

Hereditary hypotrichosis. A previously undescribed syndrome.

A syndrome of hereditary hypotrichosis with an unusual natural history and clinical features was encountered in a Caucasian family of four generations with a total of twenty-four members of whom eleven were affected. The mode of inheritance was autosomal dominant with variable penetrance. The loss of hair involved the scalp, eyebrows, eyelashes and body hair, manifesting itself in the school years and progressing to almost complete baldness. There were no associated abnormalities and no sex limitation. Clinical, genetic, biochemical, mechanical, histological and immunological aspects were studied. Essential differences between this type of hereditary hypotrichosis and others previously recorded are stressed.

Adult↗
PubMed1977

[Familial translocation 3/22 MAT with partial trisomy 3q (author's transl)].

Two mentally retarded brothers with partial trisomy 3q show clinically similar malformations and deformities : dwarfism, bushy eyebrows, eversion of the nostrils, low inserted ears, high palate, microgeny, low hair insertion, short and broad hands with proximally inserted thumbs, clinodactylia of the 5th finger, syndactylies, mostly arch patterns on the digital pulps, muscular hypotonia, joint relaxation and cryptorchism. Both children had fits of convulsions. The younger boy showed, moreover, a perception deafness. The mother, the maternal grand-mother as well as the phenotypically normal sister of the patients revealed a balanced translocation 3/22 with a karyotype : 46,XX,t(3;22) (q25;p11).

Abnormalities, Multiple↗