Meera Thomas

Group Sparse Reconstruction of Multi-Dimensional Spectroscopic Imaging in Human Brain in vivo

Four-dimensional (4D) Magnetic Resonance Spectroscopic Imaging (MRSI) data combining 2 spatial and 2 spectral dimensions provides valuable biochemical information in vivo; however, its 20–40 min acquisition time is too long to be used for a clinical protocol. Data acquisition can be accelerated by non-uniformly under-sampling (NUS) the ky− t1 plane, but this causes artifacts in the spatial-spectral domain that must be removed by non-linear, iterative reconstruction. Previous work has demonstrated the feasibility of accelerating 4D MRSI data acquisition through NUS and iterative reconstruction using Compressed Sensing (CS), Total Variation (TV), and Maximum Entropy (MaxEnt) reconstruction. Group Sparse (GS) reconstruction is a variant of CS that exploits the structural sparsity of transform coefficients to achieve higher acceleration factors than traditional CS. In this article, we derive a solution to the GS reconstruction problem within the Split Bregman iterative framework that uses arbitrary transform grouping patterns of overlapping or non-overlapping groups. The 4D Echo-Planar Correlated Spectroscopic Imaging (EP-COSI) gray matter brain phantom and in vivo brain data are retrospectively under-sampled 2×, 4×, 6×, 8×, and 10___ and reconstructed using CS, TV, MaxEnt, and GS with overlapping or non-overlapping groups. Results show that GS reconstruction with overlapping groups outperformed the other reconstruction methods at each NUS rate for both phantom and in vivo data. These results can potentially reduce the scan time of a 4D EP-COSI brain scan from 40 min to under 5 min in vivo.

Pediatric Onset Keratosis Lichenoides Chronica: A Case Report

Abstract:  Keratosis lichenoides chronica (KLC) is an acquired keratinization disorder that is rare in childhood. We report a case of sporadic pediatric‐onset KLC with seborrheic dermatitis‐like lesions on the forehead, papules in a retiform pattern in the axillae and mons pubis, and eye and oral mucosal involvement,with additional features of premature canities and a transient photosensitive eruption.

A Novel X‐Chromosomal Microdeletion Encompassing Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects

Abstract:  We report an unusual phenotype of congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome most likely resulting from a novel X‐chromosomal microdeletion encompassing the promoter region and exon 1 of the nicotinamide adenine dinucleotide phosphate steroid dehydrogenase‐like protein gene, the neighboring gene CETN2, and more than 10 kb of noncoding deoxyribonucleic acid.

Role of imatinib in the treatment of pediatric onset indolent systemic mastocytosis: a case report

Background: Mastocytosis is a sporadic disease characterized by an abnormal accumulation of mast cells (MCs) in single or multiple organs. It has a heterogeneous clinical picture which is a reflection of underlying tissue MC burden, mediators released and the organs involved. Here, the authors report significant symptomatic, cutaneous and systemic response to imatinib in a case of childhood onset indolent D816V KIT unmutated systemic mastocytosis (SM). Case report: A 19-year-old female presented with a history of itchy skin lesions over the face, trunk and extremities since 6 months of age associated with recurrent bouts of angioedema. The skin and bone marrow examination were consistent with mastocytosis. No pathogenic mutations were detected in exons 8 and 17. In view of the severity of cutaneous symptoms and evidence of bone marrow involvement, she was treated with imatinib which resulted in marked improvement. Conclusion: Imatinib has a therapeutic role in the presence of an imatinib-sensitive KIT mutation or in KIT816-unmutated patients with aggressive SM. Its role in the treatment of indolent and cutaneous mastocytosis is less well established. However, the authors have demonstrated the usefulness of imatinib in the treatment of c-KIT-negative indolent SM with extensive cutaneous involvement.

Linear epidermolytic acanthoma of vulva: An unusual presentation

Epidermolytic acanthoma (EA) is a rare benign tumor that shows epidermolytic hyperkeratosis (EH) on histopathology. It can occur in a solitary or disseminated form. This condition needs to be distinguished from other hereditary or acquired conditions that may show EH. We diagnosed an unusual case of EA of the vulva presenting in a linear pattern in a 50-year-old lady based on the clinical features and typical histopathological findings and stress the importance of considering epidermolytic acanthoma in the differential diagnosis of verrucous lesions of the genitalia.

Novel multidrug therapy for disseminated rhinosporidiosis, refractory to dapsone – case report

Rhinosporidiosis is a chronic granulomatous disorder, caused by Rhinosporidium seeberi endemic in India and Sri Lanka. The most common sites are the nasal mucosa and the nasopharynx and cutaneous lesions usually occur as a part of disseminated rhinosporidiosis. Dapsone has been frequently used in treating disseminated disease in immunocompetent individuals. Here we report a case of disseminated rhinosporidiosis in an immunocompromised individual on antiretroviral drugs, non-responsive to Dapsone and therefore treated with a multidrug therapy of Cycloserine, Dapsone and Ketoconazole with good response.

Generalized pustular psoriasis following allogeneic stem cell transplantation

Development of psoriasis following allogeneic stem cell transplantation (SCT) is rare, and has been described once previously, following SCT from a sibling donor with psoriasis. This condition should be differentiated from psoriasiform graft‐versus‐host disease (GvHD) by histopathology. We describe a 9‐year‐old boy who developed generalized pustular psoriasis 2 months after allogeneic SCT from an HLA‐identical sibling donor with no history of psoriasis. Diagnosis was confirmed by clinical features and multiple skin biopsies, which helped to exclude GvHD. The skin lesions responded well to treatment with acitretin. Psoriasis should be considered in the differential diagnosis of skin rash following SCT.

Acral pigmentation in alkaptonuria resembling degenerative collagenous plaques of the hands: A report of five cases

REFERENCES 1. Rogers HD, Macgregor JL, Nord KM, Tyring S, Rady P, Engler DE, et al. Acquired epidermodysplasia verruciformis. J Am Acad Dermatol 2009;60:315-20. 2. Brink AA, Lloveras B, Nindl I, Heideman DA. Development of a general-primer-PCR-reverse-line-blotting system for detection of beta and gamma cutaneous human papillomaviruses. J Clin Microbiol 2005;43:5581-7. 3. Videla S, Darwich L, Ca~ nadas MP, Paredes R, Tarrats A, Castella E, et al. Epidemiological data of different human papillomavirus genotypes in cervical specimens of HIV-1-infected women without history of cervical pathology. J Acquir Immune Defic Syndr 2009;50:168-75. 4. Barzegar C, Paul C, Saiag P, Cassenot P, Bachelez H, Autran B, et al. Epidermodysplasiaverruciformis-likeeruptioncomplicatinghuman immunodeficiency virus infection. Br J Dermatol 1998;139:122-7. 5. Carr e D, Dompmartin A, Verdon R, Comez F, LeBrun E, Freymuth F, et al. Epidermodysplasia verruciformis in a patient with HIV infection: no response to highly active antiretroviral therapy. Int J Dermatol 2003;42:296-300.

Primary Synovial Sarcoma arising from gingivo-buccal sulcus harbouring SS18-SSX2 positive fusion transcript: The 1st reported case in English literature

Synovial sarcoma (SS) is a mesenchymal tumour of uncertain histiogenesis that can show dual epithelial and mesenchymal differentiation. Thought to arise predominantly in deep soft tissue of extremities, these sarcomas have shown that they can affect a wide variety of organs and sites, however intraoral mucosal SS is rarely encountered and herein the authors present possibly the second reported case of a young lady presenting with a slow growing tumour arising in the gingivo-buccal sulcus that was reported as Synovial sarcoma on biopsy and subsequently confirmed using molecular studies, tumour demonstrating SS18-SSX2 fusion transcript. Review of the published literature revealed no documented case with molecular fusion transcript making this case the first reported case. This case also highlights the imperative role of immunohistochemistry in tandem with molecular studies to confirm the diagnosis of spindle cell tumours of oral cavity, since squamous cell carcinoma, by far remains the commonest malignancy arising in mucosa lined oral cavity.

Pagetoid dyskeratosis of the forehead.

Sir, Pagetoid dyskeratosis (PD) is an incidental histologic finding seen in various types of skin lesions, such as nevi, acrochordons, lentigines, milia, and seborrhoeic keratoses. It was first reported in the dermatology literature in 1988 in a variety of benign facial papules.[1] It is considered to be a selective keratinocyte response in which a small part of normal keratinocyte population is induced to proliferate in response to friction.[2] There are cases of PD reported in various anatomic locations. However, it has not been described in a hyperpigmented area of the forehead.