Search PubMed⌕ Search

Biomedical subjects

Maureen Rogers

Publications and source records attributed to Maureen Rogers.

12 recordsLinked to original sources
PubMed2003

Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome.

BACKGROUND: Rothmund-Thomson syndrome (RTS) is an autosomal recessive disorder associated with an increased predisposition to osteosarcoma. Children with RTS typically present with a characteristic skin rash (poikiloderma), small stature, and skeletal dysplasias. Mutations in the RECQL4 gene, which encodes a RecQ DNA helicase, have been reported in a few RTS patients. We examined whether a predisposition to developing osteosarcoma among an international cohort of RTS patients was associated with a distinctive pattern of mutations in the RECQL4 gene. METHODS: We obtained clinical information about and biologic samples from 33 RTS patients (age range = 1-30 years). Eleven patients were diagnosed with osteosarcoma. All 21 exons and 13 short introns of the RECQL4 gene were sequenced from the genomic DNA of all subjects. Kaplan-Meier survival analysis was used to estimate the incidence of osteosarcoma among patients with and without mutations predicted to produce a truncated RECQL4 protein. RESULTS: Twenty-three RTS patients, including all 11 osteosarcoma patients, carried at least one of 19 truncating mutations in their RECQL4 genes. The incidence of osteosarcoma was 0.00 per year in truncating mutation-negative patients (100 person-years of observation) and 0.05 per year in truncating mutation-positive patients (230 person-years of observation) (P =.037; two-sided log-rank test). CONCLUSIONS: Mutations predicted to result in the loss of RECQL4 protein function occurred in approximately two-thirds of RTS patients and are associated with risk of osteosarcoma. Molecular diagnosis has the potential to identify those children with RTS who are at high risk of this cancer.

Adenosine Triphosphatases↗
PubMed2003

Congenital dermatofibrosarcoma protuberans: variability in presentation.

BACKGROUND: Dermatofibrosarcoma protuberans (DFSP) is an uncommon low-grade fibrohistiocytic tumor that usually occurs on the trunk or proximal extremities and typically appears during the second to fifth decade of life. It most commonly begins as a red-blue plaque that grows slowly and ultimately becomes nodular. The tumor is associated with a high recurrence rate but low metastatic potential. It rarely presents in childhood and is even more rarely present at birth. The clinical diagnosis of DFSP in infancy or childhood may be difficult because, in its early stages, the tumor often resembles a vascular birthmark. OBSERVATIONS: We studied 6 patients with congenital DFSP who were initially thought to have other diagnoses, highlighting the potential clinical variability in presentation. Half of the cases in this series occurred in areas of the body outside of the typically reported distribution pattern of acquired DFSP and in locations that, therefore, may not arouse suspicion of congenital DFSP. CONCLUSIONS: Given the aggressive local potential and high recurrence rate of DFSP, early diagnosis is preferable to facilitate appropriate excision. We recommend that any infant or child presenting with a cutaneous plaque or nodule, even congenital, that does not have characteristic or diagnostic clinical features undergo tissue biopsy for histologic evaluation.

Biopsy, Needle↗
PubMed2003

Demodex infestation in a child with leukaemia: treatment with ivermectin and permethrin.

BACKGROUND: Demodex mites are almost ubiquitous on older adult skin but are infrequent in young children. In immunocompromised patients, demodicosis may be more frequent and severe, and systemic therapy may be needed to achieve clinical resolution. CASE REPORT: A six-year-old boy having maintenance chemotherapy for acute lymphoblastic leukemia presented with widespread erythema and scaling of the face. Skin scrapings were negative and the eruption worsened despite the completion of chemotherapy and the use of topical corticosteroids. Pustules developed on the face and around the eyelids, associated with bilateral blepharitis and lower lid chalazia. Skin biopsy then revealed heavy infestation with Demodex folliculorum. The child was treated with a combination of topical permethrin and oral ivermectin, with a total of four doses of ivermectin given over 6 weeks. The facial eruption had completely resolved 3 months after initiation of this combined treatment. COMMENT: Demodex infestation can cause dramatic facial and eyelid inflammation in immunocompromised patients. Oral ivermectin, in combination with topical permethrin, can be a safe and effective treatment for severe demodicosis.

Animals↗
PubMed2002

Review of neurological manifestations in 196 patients with sebaceous naevi.

The incidence of neurological abnormalities in patients with sebaceous naevi may not be as high as has been previously accepted. One hundred and ninety-six patients with epidermal naevi of the sebaceous type were examined for clinical neurological abnormalities. Ninety-three per cent of these patients were neurologically normal on examination. Extensive naevi were present in 21% (3/14) of patients with neurological abnormalities and in 5% (9/182) of those without. A centrofacial location of the naevus was found in 21% (3/14) of patients with abnormalities and in 2% (4/182) of neurologically normal patients. A surprising finding was the low yield of abnormalities from neuroimaging in the patients with clinical neurological abnormalities. Imaging was performed in eight of the 14 and was normal in six patients. Despite the lower than expected rate of associated abnormalities and the low yield of abnormal findings from imaging, it is strongly recommended that all patients with sebaceous naevi have a detailed neurological assessment and that imaging be performed on all those in whom clinical abnormalities are demonstrated, as well as on those patients with large naevi involving the centrofacial area.

Biopsy, Needle↗
PubMed2002

Congenital annular erythema persisting in a 15-year-old girl.

We present a 15-year-old girl who has had a persisting extensive annular erythematous eruption since birth. Otherwise, she is healthy and developmentally normal. Multiple investigations throughout the years have been normal or negative. Numerous treatments have been tried, but with little success. Both clinical and histological examination fit no known classification. It is most consistent with annular erythema of infancy but could be the first reported case of a new entity. A review of other causes of annular erythema in infancy is presented.

Adolescent↗
PubMed2002

Childhood psoriasis.

Psoriasis commences by the age of 15 years in one third of patients and is an important childhood disorder. Various human leukocyte antigen associations are important in predisposition to psoriasis, and streptococcal disease is important in its precipitation and exacerbation. The disorder takes many clinical forms, with guttate lesions and anogenital and facial involvement being particularly prominent in the childhood age group. Pustular psoriasis and psoriatic arthropathy are rare in this group of patients. It is important to take the age of the patient into account when making treatment choices.

Age Factors↗
PubMed2002

Epidermal nevi.

Explore the source record for details and available documents.

Abnormalities, Multiple↗
PubMedDate not supplied

Sonographic findings in a series of rapidly involuting congenital hemangiomas (RICH).

We report 10 patients with lesions consistent with the clinical entity of rapidly involuting congenital hemangioma (RICH). These are congenital vascular tumors bearing some resemblance to infantile hemangiomas, but with important clinical differences. The lesions in our patients were firm, red or purple plaques or tumors, sometimes with surface telangiectasia and almost all with a pale or blanched halo. They were fully developed at birth and underwent no further expansion. All promptly began to resolve and this progressed rapidly over the early months of life, with complete resolution, sometimes with residual atrophy, occurring at less than 1 year of age in most of the patients. Sonography was performed in all of our cases. A remarkably consistent picture was demonstrated. The lesions were uniformly hypoechoic and mostly confined to the subcutaneous fat. They were diffusely vascular, being traversed by multiple tubular vascular channels. Some of the channels were compressible, with a venous flow signal, while others demonstrated low resistant arterial flow. These features are consistent with recently described histopathologic findings in these rapidly involuting lesions. We feel that this entity can be reliably diagnosed in most cases with a consideration of the unique clinical features and with the use of noninvasive imaging studies.

Female↗
PubMedDate not supplied

Cutaneous pustular leukemoid reactions in trisomy 21.

We report two neonates with Down syndrome and postnatal leukemoid reactions who developed acute widespread pustular eruptions. The white blood cell (WBC) counts on the first day of life were markedly elevated, with blasts seen on examination of the peripheral blood smear. The skin eruptions progressed and became pustular. Viral and bacterial cultures were negative. Skin examination revealed pustules on an erythematous base on the cheeks, shoulders, trunk, and proximal extremities. Skin biopsy specimens showed an intraepidermal pustule with an inflammatory infiltrate including neutrophils, eosinophils, and mononuclear cells. The mononuclear cells had atypical, immature-appearing nuclei. In patient 1, these cells were strongly myeloperoxidase positive on immunohistochemistry, indicating myeloid lineage. In patient 2, these cells were CD3-positive T cells. Patient 1 received a 5-day infusion of continuous cytarabine (ara-C) secondary to high WBC counts and symptomatic hyperviscosity. During therapy, the high WBC count and the pustules resolved. The lesions of patient 2 improved with topical mometasone furoate and resolved as her WBC count decreased. Recently, similar cases have been reported. Transient myeloproliferative disorders, or leukemoid reactions, should always be considered when newborns with Down syndrome or trisomy 21 mosaicism develop a pustular eruption.

Biopsy, Needle↗