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Histological findings in the eyelids of AIDS patients.

PURPOSE: The eyelids of 15 AIDS patients (17 specimens) were examined histologically at postmortem. METHODS: Formalin-fixed, paraffin-embedded and haematoxylin-eosin stained sections were examined by conventional light microscopy. The presence of calcific deposits was confirmed by special stains and elemental analysis (X-ray energy dispersive spectroscopy). RESULTS: 6 cases had abnormal microscopical findings. In two cases deposits of calcium oxalates were observed in the wall of dermal blood vessels and in epithelial cells of sweat and sebaceous glands, respectively. Precipitates of calcium phosphate were observed in the superficial substantia propria of the palpebral conjunctiva in an additional patient. Other histological findings in the remaining three patients included flat warts, an unusual elastotic degeneration of the forniceal palpebral conjunctiva and more common lesions (chalazion, Demodex folliculorum infestation of the eyelashes, trichilemmal cyst). CONCLUSION: The presence of microscopical lesions in nearly half of this small series demonstrates that the eyelids may be affected subclinically in AIDS patients.

Acquired Immunodeficiency Syndrome↗

An autosomal dominant form of hereditary hypotrichosis simplex maps to 18p11.32-p11.23 in an Italian family.

We report on a three-generation Italian family with dominant transmission of a form of hereditary hypotrichosis simplex (HHS). The nine affected adults presented with sparse, thin and short hair. Somewhat less sparse and longer hair was observed in the two affected young children in the third generation. Reduced hair growth affected the scalp and body, although normal eyelashes, eyebrows and growth of men's beards were observed. No associated abnormality was detected and the overall psychomotor development of the affected individuals was normal. A phenotypic variation was observed amongst the family members and is suggestive of a reduced penetrance of the trait or the effect of a modifying factor. After exclusion, in our family, of linkage to loci previously described in other forms of atrichia or hypotrichosis, we performed a genome-wide linkage analysis, which resulted in a positive lod score at 18p11.32-p11.23. We defined a critical region of about 35 cM flanked by markers D18S853 and D18S40. The highest two-point lod score was obtained with the microsatellite markers D18S1376, D18S53 and D18S453 (lod score of 3.31 at theta = 0.00). The 18p11.32-p11.23 locus represents the first chromosome region shown to be associated with hereditary hypotrichosis simplex.

Adult↗

The molecular basis of congenital atrichia in humans and mice: mutations in the hairless gene.

Congenital atrichia is a form of total alopecia inherited in an autosomal recessive pattern. In individuals affected with this form of hair loss, hairs are typically absent from the scalp, and patients are nearly completely devoid of eyebrows, eyelashes, axillary and pubic hair, following shedding of the natural hair shortly after birth. We have recently linked this disorder to the chromosomal region 8p12, and cloned the human hairless gene, which resides within this interval. We have identified several mutations in the hairless gene in atrichia families from around the world. In hairless mice, the hair matrix cells appear to undergo a premature and massive apoptosis, together with a concomitant decline in Bcl-2 expression, a loss of NCAM positivity, and a disconnection with the overlying epithelial sheath essential for the movement of the dermal papilla. As a consequence, the hair bulb and dermal papilla remain stranded in the dermis, and indispensible messages between the dermal papilla and stem cells in the bulge are not transmitted, so no further hair growth occurs. These findings suggest that the hairless gene product may play a crucial role in maintaining the delicate balance between cell proliferation, differentiation and apoptosis in the hair follicle, as well as in the interfollicular epidermis.

Alopecia↗

Marie Unna congenital hypotrichosis: clinical description, histopathology, scanning electron microscopy of a previously unreported large pedigree.

Marie Unna congenital hypotrichosis (MUCH) is a rare autosomal dominant condition in which abnormalities are confined to hair shaft structure and hair density. We report a six-generation pedigree consisting of 59 members of whom 16 are affected; nine identified affected individuals are living. Affected individuals are born with adequate, normal to coarse hair. During early infancy the scalp hair becomes more coarse and wiry and stands out from the head. All affected individuals have sparse to absent eyebrows, eyelashes and body hair including secondary sexual hair. In some individuals, scalp hair is progressively lost beginning at puberty or beyond, until only a sparse fringe in the tonsorial distribution remains. The hair shafts are uniformly increased in diameter, measuring up to 0.12 mm. Individual hair shafts are deeply pigmented, variable in diameter, twisted, and bent at odd angles; some have a longitudinal groove visible on scanning electron microscopy. Cross-sectional shapes are variable and irregular, exhibiting oval, angular to reniform shapes. Multiple anagen hairs are extractable on gentle hair pull. Other ectodermal structures are unaffected except for exceptionally widely spaced upper incisor teeth seen in 50% of affected individuals. Histologically, there are dramatically reduced numbers of follicles per unit area, averaging nine total hairs per 4 mm cross-section as compared with a normal of 40. A mild to moderate inflammatory infiltrate is present, but little fibrosis and no scarring. The mechanism of progressive hair loss is unknown.

Adolescent↗

A previously unreported syndrome of multiple scalp whorls and associated anomalies.

A 13-month-old male infant with 14 hair whorls in the scalp, sparse frontal hair, wide forehead, ectropion, abnormal implantation of eyelashes, peculiar face and depigmented nipples is reported. Other aspects of his physical and mental development were within normal limits. The constellation of clinical features in this patient appear to represent a previously undescribed syndrome.

Abnormalities, Multiple↗

Propofol auto-co-induction as an alternative to midazolam co-induction for ambulatory surgery.

We propose the use of an intravenous propofol/propofol auto-co-induction technique as an alternative to propofol/midazolam for induction of anaesthesia. We have studied 54 unpremedicated ASA 1 or 2 patients undergoing day-stay anaesthesia for minor orthopaedic surgery. All received 10 micrograms.kg-1 or alfentanil before induction, followed by either midazolam 0.05 mg.kg-1, propofol 0.4 mg.kg-1 or saline, and 2 min later, a propofol infusion at a rate of 50 mg.kg-1.h-1 until loss of eyelash reflex. We compared pre- and postinduction haemodynamic changes, complications at insertion of a laryngeal mask airway and recovery from anaesthesia in the three groups. Both co-induction techniques showed less postinduction hypotension and significant reduction of the total induction dose of propofol when compared to the control group. In the propofol/propofol group there was a decreased incidence of apnoea during induction of anaesthesia. These patients were discharged from hospital 2 h after the end of anaesthesia whereas patients in the midazolam/propofol group were discharged after 2 1/2 h (p < 0.001).

Adult↗

Comparison of sevoflurane and propofol with rocuronium for modified rapid-sequence induction of anaesthesia.

We compared the use of sevoflurane and propofol with three different doses of rocuronium for modified rapid-sequence induction of anaesthesia. One hundred and forty adult patients were randomly allocated to have a rapid-sequence intravenous induction with propofol 2-3 mg.kg-1 (group P) or an inhalational induction with sevoflurane 8% in oxygen, using a vital capacity technique (group S). Following loss of the eyelash reflex, cricoid pressure was applied and 20 patients in each group were administered rocuronium 0.3 (groups P/0.3 and S/0.3), 0.45 (groups P/0.45 and S/0.45) or 0.6 (groups P/0.6 and S/0.6) mg.kg-1. An additional 10 patients in each group received only saline placebo in place of the muscle relaxant (groups P/Saline and S/Saline). Laryngoscopy was started 60 s later and intubating conditions evaluated by a blinded anaesthetist according to a standard scoring system. Intubating conditions were acceptable in one patient and no patient, respectively, following induction with sevoflurane and propofol without the muscle relaxant. The conditions were acceptable in 30, 55 and 90% of subjects with sevoflurane induction, and in 45, 80 and 90% of subjects with propofol induction following 0.3, 0.45 and 0.6 mg.kg-1 of rocuronium, respectively (no significant difference for each dose of rocuronium). The present study shows that intubating conditions during a rapid-sequence induction using rocuronium 0.6 mg.kg-1 following induction of anaesthesia with sevoflurane or propofol are similar.

Adolescent↗

Sevoflurane: a comparison between vital capacity and tidal breathing techniques for the induction of anaesthesia and laryngeal mask airway placement.

Sixty unpremedicated adult day-case patients were randomly assigned to either vital capacity or tidal breathing inhalational induction techniques. End points assessed included loss of eyelash reflex, time to drop a weighted syringe, time to jaw relaxation and time to the end of laryngeal mask airway insertion. Complications occurring during the induction of anaesthesia were recorded. The data show that there is no statistical or clinical difference between the two induction techniques. Patient acceptance of both techniques was similarly high. When the time taken to prime the anaesthetic breathing system is taken into consideration, the vital capacity technique is more expensive for induction of anaesthesia. These results therefore question the need for the vital capacity induction technique with sevoflurane 8%.

Adolescent↗

Fentanyl supplementation of sevoflurane induction of anaesthesia.

Sevoflurane induction of anasthesia has been examined extensively, but little is known about the usefulness of other drugs as adjuncts to hasten and smooth the process. Sixty patients, undergoing surgery of a type suitable for a spontaneous respiration, laryngeal mask airway anasthetic technique, were randomly allocated to receive 1.0 microgram.kg-1 intravenous fentanyl or the equivalent volume of normal saline, 30 s prior to triple-breath induction with sevoflurane. The study was double-blind. There were no differences between the groups for the times to loss of eyelash reflex, jaw relaxation, insertion of the laryngeal mask airway or regular settled breathing. However, there was a difference in the incidence of adverse airway events (breath-holding, coughing and laryngospasm) between the two groups (16.5% in the fentanyl group and 40% in the placebo group); this did not reach statistical significance. Both groups were haemodynamically stable throughout induction, although the fentanyl group had a statistically significant decrease in systolic blood pressure at 4 min compared with the placebo group, which was not considered clinically relevant. We conclude that fentanyl has no significant influence over the speed and quality of sevoflurane induction.

Adjuvants, Anesthesia↗

180-kDa bullous pemphigoid antigen defective generalized atrophic benign epidermolysis bullosa: report of four cases with an unusually mild phenotype.

Generalized atrophic benign epidermolysis bullosa (GABEB) is a rare variant of non-lethal junctional epidermolysis bullosa characterized by generalized skin blistering healing with atrophy and by atrophic alopecia with onset in childhood. Other features include mild mucosal blistering, dental abnormalities and nail dystrophy. We report four additional cases of GABEB from two families originating from the same isolated village. The patients shared an unusually mild clinical phenotype with cutaneous blisters strictly limited to trauma sites and rare occurrence of oral mucosal lesions. Scalp, eyelash and eyebrow alopecia was present in only two cases. Immunofluorescence studies showed a markedly reduced expression of the 180-kDa bullous pemphigoid antigen (BP180), and northern analysis of cultured keratinocytes indicated that the gene encoding for BP180 is affected in these GABEB patients.

Adult↗

Distichiasis-lymphoedema: clinical features, venous function and lymphoscintigraphy.

Distichiasis-lymphoedema is a rare variant of the genetically determined lymphoedemas; distichiasis is the abnormal development of the meibomian glands causing aberrant growth of eyelashes. However, a better understanding of this clinically distinct subgroup may provide useful information on the genetic inheritance of all types of lymphoedema. This report provides phenotype data on a very large family with distichiasis-lymphoedema. Lymphoscintigraphy and light reflection rheography (venous function) were undertaken to identify the phenotype more clearly. As a result of lymphoscintigraphy several subjects were reclassified phenotypically (unaffected or affected) with implications for genetic linkage studies. Associated congenital abnormalities were found and venous abnormalities were almost always present in affected limbs. A dominant inheritance with incomplete penetrance was confirmed.

Adolescent↗

Hereditary, focal, transgressive palmoplantar keratoderma with associated clinical findings: a new entity?

We report on a 24-year-old male originating from Yugoslavia with a focal, transgressive palmoplantar keratoderma presumably inherited as an autosomal recessive trait. Associated clinical findings were hyperkeratotic lichenoid papules on the knees and elbows, psoriasis-like lesions in the groins and on the scalp, a spotty or reticulate hyperpigmentation of the face, trunk and extremities and a partial alopecia of the left eyebrow and eyelashes. The patient's sister was affected by similar but less pronounced cutaneous changes. Although our case shares some similarities with other hereditary palmoplantar keratodermas there remain substantial differences. We therefore believe this case to represent a new entity.

Adult↗

Hereditary hypotrichosis simplex: report of a family.

We report a family with hereditary hypotrichosis simplex of the scalp, a rare disorder that was first described in 1974. In our family, four out of 10 siblings were affected, including three females and one male. Examination showed thinning of the scalp hair and sparse body hair. Eyebrows, eyelashes, pubic and axillary hair were normal. Skin, nails and teeth were also normal. Hair shaft examination did not reveal any structural abnormalities. Normal follicular units, hair shafts within follicles, eccrine glands and a lack of inflammation were seen on histopathology. The primary pathology underlying this genodermatosis is unclear, but the anagen phase of the hair cycle is clearly compromised.

Adolescent↗

An investigation of the effect of ondansetron on time to induction of anaesthesia with thiopentone and propofol.

In two consecutive, randomized, double-blind studies the effect of ondansetron on the time to induction of anaesthesia with propofol and, subsequently, thiopentone was assessed. In each study 40 patients received either ondansetron 8 mg or placebo immediately before induction of anaesthesia with a standardized dose of propofol (2.5 mg kg-1) or thiopentone (5 mg kg-1). Times to induction of anaesthesia were determined by assessing loss of verbal response, motor power and eyelash reflex. There was no difference in either study in times to induction of anaesthesia between immediate pre-treatment with ondansetron or placebo. Side effects were minor and of similar incidence in the ondansetron and placebo groups.

Adult↗

High incidence of demodicidosis in eyelid basal cell carcinomas.

BACKGROUND: Although UV radiation is the major cause of basal cell carcinoma (BCC), local factors, such as chronic trauma, irritation, or inflammation, may also have some role in its etiopathogenesis. The pilosebaceous follicle mites, Demodex folliculorum and D. brevis, inhabit most commonly and densely certain facial skin areas, including the nose and periorbital regions, where BCC also develops most frequently. AIM: To investigate, in a retrospective histopathologic study, whether a possible etiopathogenetic relationship exists between demodicidosis and eyelid BCCs. METHODS: We examined 32 eyelid BCC specimens that contained at least five eyelashes or five hair follicles with respect to the presence and density of Demodex mites. As controls, we evaluated 34 matched specimens consisting of benign eyelid skin lesions. RESULTS: Twenty-one of 32 BCC cases (65.6%) and eight of 34 control cases (23.33%) had demodicidosis. Mean mite counts were 1.31 +/- 1.57 and 0.47 +/- 0.99 in BCC cases and controls, respectively. The differences were significant for both prevalence (P < 0.001) and density (P = 0.0052). Although there was a significant positive correlation between increasing mite number and patient age in the control group (r = 0.47, P < 0.05), no significant correlation was found between these two factors in BCC cases (r = -0.102, P > 0.05). CONCLUSIONS: Demodicidosis may be one of the triggering factors of carcinogenesis in eyelid BCCs in otherwise predisposed people due to its traumatic/irritating effect or chronic inflammation.

Adult↗

Cardiofaciocutaneous (CFC) syndrome.

An 11-year-old boy affected by mental retardation and seizures demonstrates congenital heart defect, many dysmorphic features and dry skin. His hair is sparse over the vertex with alopecia of the eyebrows and eyelashes. There are horny small papules evident in those areas. The diagnosis of cardiofaciocutaneous syndrome has been made. The relationship between cardiofaciocutaneous and Noonan syndrome is discussed.

Abnormalities, Multiple↗

Permanent alopecia following chemotherapy and bone marrow transplantation.

Alopecia can be a psychologically daunting prospect for people requiring cancer chemotherapy. Fortunately, most patients experience only temporary hair loss. We report the case of a 23-year-old woman with chronic myeloid leukaemia who developed permanent, near-total alopecia of her scalp, eyebrows, eyelashes, axillary and public hair following busulphan and cyclophosphamide chemotherapy which was used as conditioning prior to allogeneic bone marrow transplantation. The histology from a scalp biopsy revealed hair follicle destruction. Topical minoxidil failed to induce significant re-growth.

Adult↗

Difficult paediatric intubation when fibreoptic laryngoscopy fails.

We report an unusual problem with fibreoptic bronchoscopy in an 8-year-old girl with Negar syndrome. She had a history of difficult airway since birth, and had undergone mandibular distraction for severe obstructive sleep apnoea when she was aged 2 years. Nagar syndrome is a Treacher-Collins like syndrome with normal intelligence, conductive bone deafness and problems with articulation. The patients have malar hypoplasia with down slanting palpebral fissures, high nasal bridge, micrognathia, absence of lower eyelashes, low set posteriorly rotated ears, preauricular tags, atresia of external ear canal, cleft palate, hypoplasia of thumb, with or without radius, and limited elbow extension. Protracted attempts with a fibreoptic bronchoscope failed to visualize the glottis, and this was only possible when the tube was guided to the larynx by blind nasal intubation. Apparently, the healing of the wounds for the mandibular distraction in the mandibular space on the inside of the rami of the mandible had caused differential fibrosis on either side of the hyoid, leading to a triplane distortion of the larynx with a left shift, clockwise rotation to a 2-8 o'clock direction and a slight tilt towards the left pharyngeal wall. The large epiglottis overlying this had precluded a view of the larynx. Finally, the older technique of breathguided intubation facilitated fibreoptic bronchoscopy to achieve tracheal intubation.

Bronchoscopy↗