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PubMed1991

Ichthyosis, exocrine pancreatic insufficiency, impaired neutrophil chemotaxis, growth retardation, and metaphyseal dysplasia (Shwachman syndrome). Report of a case with extensive skin lesions (clinical, histological, and ultrastructural findings)

The Shwachman syndrome comprises exocrine pancreatic insufficiency, growth retardation, and bone marrow hypoplasia resulting in neutropenia. Clinical, morphological, and ultrastructural studies, as well as hair analysis, were performed in a patient with Shwachman's syndrome and severe ichthyosis. Clinical findings were lamellar ichthyosiform desquamation on the extremities. The hair was scanty and short on the scalp, in the eyelashes, and in the eyebrows. The nails were hyperkeratotic. Morphologic findings were slight, regular acanthosis and severe diffuse hyperkeratosis with variable parakeratosis. The granular layer was thickened. The papillary dermis showed very slight perivascular lymphocyte infiltration. The most prominent ultrastructural finding was the presence of solitary or multiple droplets of varying size in the cytoplasm of the keratinocytes. Hair analysis revealed no abnormalities; the cystine concentration in hair specimens was normal.

Bone Diseases, Developmental↗
PubMed1991

Trichotillomania.

Trichotillomania is a behavioral disorder characterized by the recurrent failure to resist removing one's own hair from the scalp, eyelashes, eyebrows, beard, axillary areas or pubic area. Patients report an increasing sense of tension immediately before the impulse to pull out their hair and a sense of gratification or relief during the act. On initial presentation, patients may deny that their hair loss is due to such behavior. The diagnosis of trichotillomania is excluded when there is a preexisting skin disorder or when the behavior results from underlying psychosis. Behavior modification training, psychotherapy, hypnosis and family counseling are common treatment approaches. Antidepressant medications such as amitriptyline and clomipramine are effective when depression or an obsessive-compulsive disorder coexists.

Adult↗
PubMed1990

[Rubrophytosis of the face].

The authors review the data on the incidence and type of fungal involvement of the face in T. rubrum-induced trichophytosis in the USSR and other countries of the world. Exquisite localizations are cited, i.e. involvement of the lacrimal nasal channel, external acoustic meatus, eyelids and eyelashes. Extraordinary variants of trichophytosis of the face are described: tumor-like, wart-like, infiltrative suppurative, seborrheal, as well as the forms simulating photodermatoses, perioral dermatitis, etc. 35 case histories of patients suffering from this condition, observed by the authors over 21 years, are cited, and photographs are presented of 8 of them with the most incident trichophytosis variants, i.e. seborrheal, infiltrative suppurative, and those simulating discoid lupus erythematosus and perioral dermatitis. The authors emphasize that fungal nature should be excluded in cases with uncommon course of this or that dermatosis.

Adult↗
PubMed1990

Human hair morphology: a scanning electron microscopy study on a male Caucasoid and a computerized classification of regional differences.

The present study was performed to provide a better understanding of the morphological variations of mammalian hair. Terminal hair samples were obtained from different regions of the body of the same Caucasian male. All hair samples were either cleaned or treated before being examined with scanning electron microscopy. As human scalp hair grew it appeared small like lanugo hair, but the increase in diameter appeared to have been relatively rapid. As hair increased in diameter the appearance of the scales changed. Neck hair was slightly smaller in diameter than scalp hair, and axillary hair was slightly smaller in diameter than neck hair. Nostril hair was larger than scalp or axillary hair. Eyelash hair was much smaller and much shorter than eyebrow hair. Neck hair, forearm hair, and shin hair were smaller than hair from most other regions of the body. Chest hair was similar in size to scalp hair, and pubic and sideburn hair were larger than scalp hair. A morphological feature called "steak-boning" was more characteristically present in whiskers of Caucasoids than Orientals or Blacks. "Steak-boning" occurred most frequently in hair of the mustache, followed by that of the chin, sideburn, cheek and under the chin. Cut surfaces of whiskers were different for electric as compared with straightedge razors. Hair morphology varied relative to the body region. Computer analysis of resin-embedded hair made it possible to classify arm, mustache, cheek, chin, head, shin, and pubic hair, and to quantify cross-sectioned differences.

Hair↗
PubMed1989

Individual variation in response to thiopentone.

The purpose of this study was twofold. The first one was to quantify differences in dose requirements for thiopentone in different patient groups and the second one was to point out and elucidate possible explanations for the observed differences. Pharmacodynamic aspects were studied by comparisons of doses and serum concentrations associated with the achievement of obtundance of the eyelash reflex. Also the effect of thiopentone on cardiovascular system was studied in vivo and in vitro. For the study of the in vitro effect rings of the rabbit pulmonary artery were used in vivo the cardiac effect of thiopentone was assessed by impedance cardiography. Classical compartmental analysis of serum concentration/time relationship after administration of anaesthetic doses of thiopentone was performed to establish comparable pharmacokinetic data. Furthermore unbound and protein-bound levels of thiopentone were measured and assessed. The analysis of thiopentone was based on high pressure liquid chromatography and separation between bound and unbound drug was done by ultrafiltration as well as equilibrium dialysis. The binding of thiopentone in human serum and in a physiological saline solution (PSS) with 45 g albumin per litre was 85% and remarkably constant over the concentration range between 4 and 80 micrograms/ml. At lower drug concentration the binding increases and was 87% at 0.4 micrograms/ml. The increase was more pronounced at pH 6 and 6.8 than at pH 7.4 while no increase was observed at pH 9.0. The percentage binding increases with increasing pH from approximate 75% at pH 6.0 to a maximum value of 95% at pH 9.0. This increase in binding with increasing pH might be explained by the simultaneous transition of N-albumin to B-albumin. The albumin binding was at a higher level after reduction of the temperature from 37 degrees C to 2 degrees C. The partition coefficient between olivaoil and PSS also showed an increase by this change in temperature. The very moderate changes in binding over long ranges of drug concentration made it difficult to obtain reliable expressions for thermodynamic parameters which could characterize the nature of the binding. It was suggested that the nature of the protein binding could be characterized best as a solution of the drug in hydrophobic areas of the albumin molecule. The average percentual binding on serum has been shown reduced in patients with deteriorated kidney and liver function and also in elderly subjects, in pregnant women and in newborns. The reduced binding may explain the increased values for total body clearance and for volumes of distribution found in patients with kidney failure.(ABSTRACT TRUNCATED AT 400 WORDS)

Age Factors↗
PubMed1989

[Bazex, Dupré and Christol syndrome. Apropos of a case with prolymphocytic leukemia].

We report a case of Bazex-Dupré-Christol (BDC) syndrome in a girl who died of prolymphocytic leukaemia at the age of 10 years. This is the first published case where the syndrome is associated with a blood disease. A review of the literature has enabled us to collect the various symptoms of BDC syndrome and to discuss the relationship of the syndrome with basal cell nevomatosis. We do not think that the blood disease was incidental. The child was 5 years' old in June 1972 when she was first seen in our out-patient clinic for severe hypotrichosis which had been present at birth and involved the eyelashes and eyebrows. Examination of the skin showed numerous milia on the face, a small lenticular polycystic lesion on the right ear, follicular atrophodermia on the back of the hands and hypotrichosis of the face. The right ear lesion was removed and found to look like Winer's cutaneous calcinosis. At light microscopy, many hairs showed like pili torti or, more rarely, like trichorrhexis nodosa. Despite the absence of basal cell carcinoma, the diagnosis of BDC syndrome was regarded as final. The patient died aged 10 years of prolymphocytic leukaemia revealed by pancytopenia. Combined chemotherapy with Rubidomycin, Oncovin and methotrexate had proved ineffective. Having collected from the literature 44 adequately documented cases summarized in table I, we describe the anatomico-clinical manifestations of Bazex-Dupré-Christol syndrome. Follicular atrophodermia is present in 85 p. 100 of the cases, but its date and mode of onset are difficult to evaluate.(ABSTRACT TRUNCATED AT 250 WORDS)

Alopecia↗
PubMed1989

[Rubinstein-Taybi syndrome--a report of three cases].

The main features of Rubinstein-Taybi syndrome include special facial appearance, broad thumbs, great toes and mental retardation. This syndrome presents many organogenetic and systemic deformities and various congenital ocular abnormalities, such as epicanthus, antimogoloid palpebral fissures, highly arched eyebrows, long eyelashes, obstruction of nasolacrimal ducts, strabismus and iris coloboma. In this paper we report three children with Rubinstein-Taybi syndrome with the above systemic and ocular clinical findings, and think that the lacrimal abnormality should not be overlooked in this syndrome. We brief discuss the genetics of this syndrome and suggest that the search for minimal chromosomal defects by high resolution technique might be useful for etiologic and genetic research.

Chromosome Aberrations↗
PubMed1989

Ketamine-diazepam anaesthesia in surface and major plastic surgical operations.

Ketamine hydrochloride seems to be equally suitable for surface and major plastic surgical operations where controlled ventilation is required. Controlled ventilation performed by less amount of muscle relaxant where patients were ventilated with air only sparing the O2 and N2O. Fifty patients undergoing various operations including major plastic surgery were divided into two groups. In group A, an infusion of 500 mg ketamine hydrochloride, 20 mg diazepam in 500 ml of 5% dextrose was used as anaesthetic and in group B, the same drip was started and pancuronium bromide 0.08 mg/kg IV was given when eyelash reflexes were lost. Mean durations of anaesthesia were 70.4 minutes and 90.2 minutes in groups A and B respectively. Mean doses of ketamine hydrochloride required were 310 mg and 370 mg in groups A and B respectively. Decurarisation was done in usual way in group B patients. The induction, maintenance and recovery were smooth and uneventful in all cases. Moreover no difficulty was encountered in reversing residual curarisation in any of the patients in group B. Mean rise of systolic BP was 12.5 mm Hg and that of pulse rate was 20/minute in group A. In group B, mean rise of systolic BP was 10 mm Hg and that of pulse rate was 16/minute.

Adolescent↗
PubMedDate not supplied

[Surgical treatment of postburn cicatricial inversions of the lower eyelids with involvement of the lid edge and conjunctival ectopia].

Examinations of 30 patients with postburn cicatricial inversions of the lower lids have revealed involvement of the median half of the tarsus and ciliary edge in approximately 1/5 of them. Conjunctival growth and creeping of the conjunctiva on the edge and outward surface of the eyelid, manifesting as a red spot, are observed at the site of this involvement, where no eyelashes grow. The treatment of 6 patients with such condition has led the authors to a conclusion that ectopic conjunctiva is subject to tangential resection with plasty of the eyelid, its tarsus and ciliary edge, released from the cicatrices, with a single graft of split skin. The technique of surgery is described.

Ankle↗
PubMed1985

[A case of Cornelia de Lange syndrome with retentio testis].

A 6-year-old boy whose chief complaint was retentio testis was referred to our clinic. He had mental retardation, shortness of stature of prenatal onset, retarded growth, microbrachycephaly, bushy eyebrows, long eyelashes, low-set ears and micromelia, and was diagnosed to have Cornelia de Lange syndrome. As in most cases of Cornelia de Lange syndrome the cause of our case was not clear, and chromosome analysis showed a 46,XY constitution. In our case, we performed bilateral orchidopexy for retentio testis because of the problem of fertility and the danger of malignancy. Cornelia de Lange syndrome is rare and the urologic literature dealing with this disease has never been reported in Japan. The clinical features of this disease are discussed in the present report.

Brain↗
PubMed1986

First isolation of calicivirus from reptiles and amphibians.

Calicivirus isolations were made from 4 poikilothermic species in a zoologic collection. Viruses were recovered from 8 asymptomatic Aruba Island rattlesnakes (Crotalus unicolor; rectal swab samples) and from 8 symptomatic animals (4 Aruba Island rattlesnakes, 2 Bell's horned frogs [Ceratophrys orata], 1 rock rattlesnake [C lepidus], and 1 eyelash viper [Bothrops schlegeli] tissue samples obtained at necropsy). On the basis of cross-neutralization test results, the 16 isolates were antigenically indistinguishable and were considered to represent a unique calicivirus serotype, tentatively designated reptilian calicivirus Crotalus type 1. These isolations could not be associated causally with any specific disease entity either in naturally infected poikilotherms or in experimentally infected snakes and pigs.

Animals↗
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↗
PubMed1988

Inherited progressive cone--rod dystrophy and alopecia.

Two young sisters of Yemenite Jewish family with progressive cone-rod dystrophy accompanied with progressive alopecia of the scalp in one patient and with alopecia of the scalp and eyelashes in the other patient are presented. This rare disease seems to be autosomal recessively inherited since the patient's parents are first cousins and the family history is positive for a paternal grandmother and great-aunt having the same condition.

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

[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

Atrichia with papular lesions.

We report a case of atrichia with papular lesions in association with common variable immunodeficiency in an 11-year-old boy. There were identical findings in the patient's father. This rare variant of ectodermal dysplasia typically presents with shedding of normal fetal hair within the first three months. Eyelashes are typically spared. Numerous keratin-filled follicular cysts develop over extensive areas of the skin, usually between the age of 2 and 26 years. These lesions are most numerous on the face, neck, scalp, and extremities. Teeth and nails are entirely normal in these patients. The mode of inheritance of atrichia with papular lesions is uncertain. Our case suggests an autosomal-dominant inheritance pattern, while previous reports have shown autosomal recessive inheritance pattern.

Alopecia↗
PubMedDate not supplied

Schematic documentation of cornea and anterior segment problems in clinical practice.

Corneal and external eye diseases are often present together. Pathologic processes in the cornea may be secondary to lesions involving the eyelids, tear meniscus, and conjunctiva, and all structures in the anterior segment may manifest clinical phenomena. We describe a method of recording diagrammatically corneal findings along with eyelids, eyelashes, tear meniscus, and anterior segment structures.

Anterior Chamber↗
PubMed1985

Propofol ('Diprivan') emulsion for total intravenous anaesthesia.

Propofol as an hypnotic in combination with fentanyl and vecuronium was used for total intravenous anaesthesia in 30 healthy unpremedicated patients undergoing elective surgery scheduled to last no longer than 1 h. Induction with propofol 2 mg/kg and fentanyl 1.875 micrograms/kg resulted in cessation of counting after 39 s and the loss of the eyelash reflex after 57 s. Mean recovery times, measured from the end of the infusion of propofol (9 mg/kg/h) and fentanyl (7.5 micrograms/kg/h) until eyes opened on command and questions answered correctly were 10.5 and 11.5 min, respectively. Trieger test, performed 3 h postoperatively, showed no difference in comparison with the preoperative score. During longer procedures there was evidence of accumulation in that propofol utilization rate decreased as the duration of anaesthesia increased. The results obtained are similar to those described with the previous Cremophor formulation although greater variability in induction and recovery times was noted with the emulsion formulation.

Adult↗