Ossama Abbas

Cutaneous sebaceous neoplasms as markers of Muir-Torre syndrome: a diagnostic algorithm.

Sebaceous gland neoplasms such as adenoma, epithelioma, and carcinoma are uncommon cutaneous tumors. Although sporadic, their occurrence is clinically significant because of their association with Muir‐Torre syndrome (MTS). MTS is a rare autosomal dominant genodermatosis characterized by the occurrence of sebaceous gland neoplasms and/or keratoacanthomas associated with visceral malignancies that include gastrointestinal and genitourinary cancers. MTS is usually the result of germline mutation in one or more of the DNA mismatch repair (MMR) genes. MMR genes commonly implicated include MSH‐2 and MLH‐1 and, more recently, MSH‐6. Recent evidence suggests that immunohistochemistry is very sensitive and effective in detecting these defects in cutaneous tumors in MTS. In addition, the genetic instability of cutaneous and visceral tumors in MTS caused by the defects in MMR genes can also be detected, using polymerase chain reaction (PCR)‐based techniques, for microsatellite instability (MSI). Given that some sebaceous neoplasms represent cutaneous markers of MTS, what should we as dermatopathologists be advocating? Should we be looking for absence/loss of MMRs in all sebaceous neoplasms? When should we recommend assaying for MSI? This review attempts to address all of these issues with a view to streamlining the work‐up of a patient presenting for the first time with a sebaceous neoplasm and no prior personal or family history of internal malignancies.

A review of Parry-Romberg syndrome

Parry-Romberg syndrome, also known as progressive hemifacial atrophy, is a rare disorder characterized by unilateral facial atrophy affecting the skin, subcutaneous tissue, muscles, and sometimes extending to the osteocartilaginous structures. It has been associated with various systemic manifestations, particularly neurologic, ophthalmologic and maxillofacial. In this article, we review Parry-Romberg syndrome with its associated findings (neurologic, ophthalmologic, cardiac, rheumatologic, endocrinologic, infectious, orthodontic and maxillofacial, and autoimmune), underlying cause, differential diagnoses (en coup de sabre, scleroderma, and Rasmussen encephalitis), and therapeutic options.

Immunological differences in women compared with men: overview and contributing factors.

Citation: Ghazeeri G, Abdullah L, Abbas O. Immunological differences in women compared with men: overview and contributing factors. Am J Reprod Immunol 2011; 66: 163–169

Immunological Differences in Women Compared with Men: Overview and Contributing Factors

Citation: Ghazeeri G, Abdullah L, Abbas O. Immunological differences in women compared with men: overview and contributing factors. Am J Reprod Immunol 2011; 66: 163–169

Successful treatment of refractory skin manifestations of systemic lupus erythematosus with rituximab: report of a case.

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Sweet’s syndrome: retrospective study of clinical and histologic features of 44 cases from a tertiary care center

Background  Sweet’s syndrome (SS) is an uncommon disorder characterized by the abrupt onset of erythematous papules and plaques that histologically exhibit diffuse dermal neutrophilic infiltrate and edema. There are usually associated constitutional symptoms such as fever, neutrophilia, elevated serum inflammatory markers, and associated disorders. The aim of this study was to assess the clinical and histologic features of all patients diagnosed with SS at our institution between 1971 and 2008 and to compare their findings with those published in the literature.

Mucocutaneous pseudoepitheliomatous hyperplasia: a review.

Abstract Pseudoepitheliomatous hyperplasia, also called pseudocarcinomatous hyperplasia because of its resemblance to well-differentiated squamous cell carcinoma, is a reactive epithelial proliferation that is characterized by prominent irregular hyperplasia of the epithelium with tongue-like epithelial projections into the dermis. This reactive pattern may involve cutaneous or mucosal surfaces and has been described in association with a wide variety of stimuli including infectious, neoplastic, inflammatory, and traumatic among others. In this review, we will discuss the pathophysiology of pseudoepitheliomatous hyperplasia, the histopathological findings that are helpful in its differentiation from squamous cell carcinoma, and the spectrum of conditions that may show this unique feature on microscopic examination.

Atrophoderma of Pasini and Pierini: a clinical and histopathological study

Background:  Idiopathic atrophoderma of Pasini and Pierini (IAPP) usually manifests as one or multiple depressed and hyperpigmented patches, with a predilection to the trunk. No diagnostic changes are usually seen on histology. Elastic stains often reveal no abnormalities.

Acrodermatitis Continua of Hallopeau Is a Clinical Phenotype of DITRA: Evidence that It Is a Variant of Pustular Psoriasis

Acrodermatitis continua of Hallopeau (ACH) is a rare, chronic, sterile, pustular eruption that predominantly affects the fingertips with nail involvement. While some consider ACH a distinct entity, many believe it to be a variant of pustular psoriasis, especially as cases of ACH progressing to generalized pustular psoriasis (GPP) have been reported. Recently, recessively inherited mutations in the IL36RN gene, which encodes interleukin-36 receptor antagonist (IL-36Ra), have been demonstrated to be the cause of familial GPP, a condition termed DITRA (deficiency of IL-36Ra). Here, we identified a homozygous missense mutation c.338C>T (p.Ser113Leu) in the IL36RN gene in a male patient with ACH, as well as in his sister who had a history of GPP.

Identification of Several Mutations in ATP2C1 in Lebanese Families: Insight into the Pathogenesis of Hailey-Hailey Disease

Background Hailey-Hailey disease (HHD) is an inherited blistering dermatosis characterized by recurrent erosions and erythematous plaques that generally manifest in intertriginous areas. Genetically, HHD is an autosomal dominant disease, resulting from heterozygous mutations in ATP2C1, which encodes a Ca2+/Mn2+ATPase. In this study, we aimed at identifying and analyzing mutations in five patients from unrelated families diagnosed with HHD and study the underlying molecular pathogenesis. Objectives To genetically study Lebanese families with HHD, and the underlying molecular pathogenesis of the disease. Methods We performed DNA sequencing for the coding sequence and exon-intron boundaries of ATP2C1. Heat shock experiments were done on several cell types. This was followed by real-time and western blotting for ATP2C1, caspase 3, and PARP proteins to examine any possible role of apoptosis in HHD. This was followed by TUNEL staining to confirm the western blotting results. We then performed heat shock experiments on neonatal rat primary cardiomyocytes. Results Four mutations were detected, three of which were novel and one recurrent mutation in two families. In order for HHD to manifest, it requires both the genetic alteration and the environmental stress, therefore we performed heat shock experiments on fibroblasts (HH and normal) and HaCaT cells, mimicking the environmental factor seen in HHD. It was found that stress stimuli, represented here as temperature stress, leads to an increase in the mRNA and protein levels of ATP2C1 in heat-shocked cells as compared to non-heat shocked ones. However, the increase in ATP2C1 and heat shock protein hsp90 is significantly lower in HH fibroblasts in comparison to normal fibroblasts and HaCaT cells. We did not find a role for apoptosis in the pathogenesis of HHD. A similar approach (heat shock experiments) done on rat cardiomyocytes, led to a significant variation in ATP2C1 transcript and protein levels. Conclusion This is the first genetic report of HHD from Lebanon in which we identified three novel mutations in ATP2C1 and shed light on the molecular mechanisms and pathogenesis of HHD by linking stress signals like heat shock to the observed phenotypes. This link was also found in cultured cardiomyocytes suggesting thus a yet uncharacterized cardiac phenotype in HHD patients masked by its in-expressivity in normal health conditions.