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Biomedical subjects

R U Sidwell

Publications and source records attributed to R U Sidwell.

At least 19 recordsLinked to original sources
PubMed2006

A novel mutation in the XPA gene associated with unusually mild clinical features in a patient who developed a spindle cell melanoma.

BACKGROUND: Xeroderma pigmentosum (XP) is an autosomal recessive disorder of, in most cases, defective nucleotide excision repair (NER) of ultraviolet radiation (UV)- and chemical-induced DNA damage. The condition is characterized by an increased sensitivity of the skin to UV radiation, with early development of pigmentary changes and premalignant lesions in sun-exposed areas of the skin, signs of photoageing and a greatly increased incidence from a young age of skin tumours including melanoma. Approximately 20% of patients with XP show neurological abnormalities of varying severity due to primary neuronal degeneration. Genetic analysis by somatic cell hybridization has led to the identification in the NER-defective form of XP of seven complementation groups, designated XP-A to XP-G. These complementation groups correspond to different proteins involved in the NER process. XP-A classically includes some of the most severely affected patients. OBJECTIVES: We describe a 61-year-old Punjabi woman with XP. Remarkably she had only mild cutaneous abnormalities, minimal neurological features and unusual longevity, and developed a malignant spindle cell melanoma. There are few previous reports of spindle cell melanoma associated with XP. To gain insight into the aetiology of these unusual features, we sought to analyse the DNA repair properties of the patient and identify the complementation group and the causative mutation in the defective gene. METHODS: Unscheduled DNA synthesis and the inhibition of RNA synthesis were measured. The complementation group was assigned by fusing the cells of our patient with XP cells of known complementation groups and determining the ability to carry out unscheduled DNA repair. Molecular analysis of the cDNA was carried out by polymerase chain reaction and DNA sequencing. RESULTS: Levels of DNA repair were extremely low and complementation analysis assigned the defect to the XP-A group. Sequencing of the XPA gene revealed a novel homozygous mutation of A-->G at the eighth nucleotide of intron 4 causing aberrant splicing and a nonfunctional truncated XP-A protein. However, a small amount of normally spliced mRNA was detected at <5% the level in normal cells. CONCLUSIONS: The small amount of normally spliced mRNA detected may be sufficient to explain the relatively mild clinical features in our patient.

Afghanistan↗
PubMed2006

Diffuse trichostasis spinulosa in chronic renal failure.

Trichostasis spinulosa is a relatively common but underdiagnosed disorder of the pilosebaceous follicles in which there is follicular hyperkeratosis of a dilated vellus hair follicle with retention of successive telogen hairs arranged in parallel among keratinaceous material. The condition is apparent as dark follicular plugs in the affected areas, most commonly affecting the face (nose and cheeks) or the trunk (interscapular area in particular). We describe a 33-year-old Indian man who was on haemodialysis for chronic renal failure and who developed unusually widespread trichostasis spinulosa over almost the entire body including the lower limbs over a period of 18 months.

Adult↗
PubMed2006

Cutaneous sarcoidal granulomas developing after Artecoll facial cosmetic filler in a patient with newly diagnosed systemic sarcoidosis.

Artecoll is a recently developed permanent synthetic cosmetic filler substance, composed of 80% bovine collagen and 20% polymethylacrylate (PMMA) microspheres of 32-40 mum in diameter. It is used for the augmentation of deep wrinkles and is to be injected subdermally. We report the development of granulomas at the site of Artecoll injections in the face in a 48-year-old woman who had pulmonary sarcoidosis. There were features consistent of both sarcoid and foreign-body granuloma, typical of those reported previously with Artecoll. We postulate that the PMMA foreign material contained within Artecoll acted as a stimulus for the development of the cutaneous sarcoid granulomas.

Antimutagenic Agents↗
PubMed2004

Localized granulomatous reaction to a semi-permanent hyaluronic acid and acrylic hydrogel cosmetic filler.

Dermalive, an injectable skin filler composed of a combination of synthetic hyaluronic acid and acrylic hydrogel particles was recently developed for soft tissue augmentation. Dermalive produces longer term results than temporary injectable fillers and is associated with a reportedly low incidence of adverse reactions. We describe a marked local reaction to the injection of Dermalive in the nasolabial fold developing within 4 months with histological confirmation of a granulomatous response. To our knowledge there has been only one previous report of a local granulomatous reaction to Dermalive.

Acrylates↗
PubMed2003

Treatment of toxic epidermal necrolysis with intravenous immunoglobulin.

Toxic epidermal necrolysis (TEN) is a rare severe reaction of the skin resulting in full thickness damage to the epidermis. The condition has significant morbidity as a result of dehydration, protein loss, thermoregulatory difficulties, and renal, lung, liver and heart failure. The mortality rate approaches 30%, most commonly from bacterial sepsis. Management of this condition is cessation of the suspected causative agent and supportive care on a burns or intensive care unit. There have been recent reports of treatment using intravenous immunoglobulin (IVIG) therapy, though its efficacy is yet to be established. It has been proposed that IVIG inhibits the Fas-FasL mediated apoptosis of keratinocytes affected by TEN. We describe a case of extensive drug-induced TEN in a 33-year-old woman who showed rapid improvement with IVIG therapy at a dose of 0.75 g/kg/day given for four consecutive days.

Adult↗
PubMed2002

A case of common variable immunodeficiency presenting with furunculosis.

Common variable immunodeficiency (CVID) is the most prevalent of the primary immunodeficiencies, and is characterised by low IgG and IgA, and sometimes IgM. There is some evidence of genetic susceptibility, with 20% of patients having a dominantly inherited disorder with variable expression. It is a heterogeneous disorder with protean manifestations, and as a result diagnosis is often delayed until the second or third decade, with resultant irreversible organ damage, in particular bronchiectasis. Effective treatment is available with regular 3-4-weekly infusions of immunoglobulin. The mechanism of the immunodeficiency has not yet been fully elucidated. The majority of patients present with recurrent sinopulmonary infection, however, this is a multisystem disorder and thus presents to physicians in diverse specialties including dermatology. Other clinical features of the disorder include gastrointestinal problems, granulomatous inflammation, cutaneous features, unusual presentations of enteroviral and mycoplasma infection, an increased incidence of autoimmunity, and a predisposition to lymphoma and stomach cancer. Therefore a knowledge of the disorder and appropriate suspicion by all clinicians of the possibility of such rare problems and a consequent low threshold for performing relevant investigations is imperative in allowing early recognition and instituting effective treatment. We describe a case of CVID identified when the patient developed widespread skin infection, fever and malaise. This case is an important example of a possible presentation of CVID within the dermatology clinic and demonstrates that maintaining a high level of clinical suspicion is essential for the diagnosis of the rare primary immunodeficiencies.

Adult↗
PubMed2001

Pyoderma gangrenosum of the eyelid and acute rhinosinusitis.

Pyoderma gangrenosum (PG) is a destructive, necrotizing, noninfective ulceration of the skin. Periorbital PG is extremely rare, and may progress, with eventual loss of the eye. We report a 47-year-old woman who presented with a right periorbital swelling of 8 days duration and concurrent acute rhinosinusitis. A clinical diagnosis of right periorbital PG was made, and treatment instituted with intravenous methylprednisolone and antibiotics, resulting in rapid resolution of the condition. The clinical features in this case, together with the past history of histologically confirmed PG, enabled a rapid diagnosis to be made, with early administration of treatment resulting in minimal scarring. The clinical picture could easily be confused with periorbital cellulitis, and this case demonstrates the importance of considering the differential diagnoses of periorbital swelling.

Acute Disease↗
PubMed2001

Are urologists prepared for latex-allergic patients?

OBJECTIVE: To determine how prepared operating departments are to manage latex-allergic patients, and particularly urologists, because the highest incidence of latex allergy occurs in patients with spina bifida who undergo frequent urological procedures. METHODS: A standard questionnaire about the provision of latex-free equipment within operating theatres was completed by the 72 hospitals surveyed (33 district general, 27 teaching, six children's and six private hospitals). RESULTS: Anaesthetic latex-free equipment was available in five of the children's hospitals, 56% of the teaching hospitals, 45% of the district general hospitals and two of the private hospitals. A latex-free catheter only was provided in two of the children's hospitals, 30% of the teaching hospitals and 12% of the district general hospitals. In addition, one of the children's hospitals and one of the private hospitals had a comprehensive range of urological latex-free equipment available. CONCLUSION: This survey shows that many hospitals are inadequately prepared to manage latex-allergic patients, because they lack anaesthetic and urological latex-free equipment.

Health Care Surveys↗