Publications by authors named "Rosbotham J"

We report a case of an immunocompromised 38-year-old Asian patient who developed several hundred atypical lesions of molluscum on her face and neck, resistant to conventional treatment. These lesions were treated successfully by potassium titanyl phosphate (KTP) laser without pigmentary disturbance. KTP laser is a novel treatment for molluscum contagiosum.

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Outside the context of hereditary deficiencies of complement and IgA, Mendelian inherited predisposition to small vessel lymphocytic vasculitis (SVLV) has rarely been documented. Here we report a large, multigenerational family segregating symmetrical cutaneous SVLV affecting the cheeks, thighs and hands. In all affected family members the disease presented in early infancy and there was no evidence for an association with systemic disease.

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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.

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Psoriasis is a common inflammatory skin condition caused by genetic and environmental factors. Recent genome-wide linkage analyses have identified a locus encoding susceptibility to psoriasis and placed this gene in the 12 cM interval between markers D6S426 and D6S276 on chromosome 6p21.3.

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Lymphedema-distichiasis (LD) is a dominantly inherited syndrome with onset of lymphedema at or just after puberty. Most affected individuals have distichiasis-fine hairs arising inappropriately from the eyelid meibomian glands-which is evident from birth. A study of three families with LD has shown linkage to chromosome 16q24.

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Somatic mutations within c-kit have been reported in individuals with mastocytoses, including urticaria pigmentosa (UP). We have identified three siblings with UP. We aimed to determine whether the c-kit proto-oncogene was playing a part in the aetiology of UP in these three siblings.

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Primary lymphedema is a chronic tissue swelling, most frequently of the lower limbs, resulting from deficient lymphatic drainage. The variability of the affected phenotype, incomplete penetrance, lack of large families, and possible genetic heterogeneity have hampered the identification of causative genes until now. We carried out a genomewide search, using a four-generation North American family with dominantly inherited primary congenital lymphedema (PCL), otherwise known as "Milroy disease," or "hereditary lymphedema type I" (MIM 153100).

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Subcutaneous fat necrosis of the newborn (SCFN) is a relatively uncommon condition of the skin which is said to be benign and painless. We report an infant with extremely painful SCFN which was relieved only by opiate analgesia. SCFN normally resolves spontaneously within a few weeks.

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Psoriasis is a common chronic inflammatory disorder of the skin. To further understand the pathogenesis of psoriasis we have chosen to investigate the molecular genetic basis of the disorder. We have used a two-stage approach to search the human genome for the location of genes conferring susceptibility to psoriasis, using a total of 106 affected sibling pairs identified from 68 independent families.

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We present the case of a 44-year-old white male who developed multiple myeloma complicated by acute renal failure 8 years after the onset of urticaria pigmentosa. Mast cell disease has been associated with a number of haematological malignancies, particularly those from the myeloid lineage. Lymphoproliferative disorders have also been linked with mast cell disease but an association with multiple myeloma has not previously been described.

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We report a case of mucocutaneous leishmaniasis in a otherwise fit Caucasian man who had traveled in an endemic area. Initial tissue microscopy failed to identify the causative organism, which was only determined by subsequent culture as Leishmania braziliensis. This case illustrates the variability in the presence of Leishman-Donovan (LD) bodies in histopathological studies and emphasizes the need for culture in suspected cases of leishmaniasis, particularly given the ability of certain Leishmania species such as L.

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Ultrasound findings in 12 AIDS patients with abdominal mycobacterial infections were reviewed and correlated with liver histology. Liver ultrasound abnormalities were common--present in 4/5 patients with Mycobacterium avium-intracellulare (MAI) and 7/7 patients with Mycobacterium tuberculosis (MTB) infection. The commonest ultrasound abnormality of the liver was a generally 'bright' liver, seen in 7/12 patients.

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A 68-year-old man with malignant hypertension of renovascular origin presented with visual impairment and complex visual hallucinations. Four weeks after the hypertension had been controlled by drugs, the hallucinations ceased and electroencephalographic evidence of encephalopathy resolved.

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