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Granulomatous skin lesions complicating Varicella infection in a patient with Rothmund-Thomson syndrome and immune deficiency: case report
Lien De Somer, Carine Wouters, Marie-Anne Morren, Rita De Vos, Joost Van Den Oord, Koenraad Devriendt, Isabelle Meyts
Orphanet Journal of Rare Diseases , 2010, DOI: 10.1186/1750-1172-5-37
Abstract: Rothmund-Thomson syndrome ((RTS) OMIM 268400) is a rare autosomal recessively inherited genodermatosis with a heterogeneous clinical presentation. It is characterized by a characteristic facial rash appearing in infancy (poikiloderma), short stature, radial ray defects, variable degrees of osteopenia, sparse scalp hair, eyelashes and eyebrows, dental abnormalities and cataract. Moreover, RTS patients are at increased risk of cancer (especially osteosarcoma and non melanoma skin cancer, but also leukemia and a range of other tumors). The syndrome was originally described in 1868 by the German ophthalmologist Rothmund in patients with rapidly progressive juvenile cataract associated with skin abnormalities [1]. In the first half of the 20th century the English dermatologist Thomson mentioned two patients with cutaneous lesions that were similar to those reported by Rothmund, but without any ocular lesions [2]. In 1953 these two medical conditions were designated as the Rothmund-Thomson syndrome [3].Following the association of RTS to mutations in RECQL4 at 8q24, two clinical-molecular subsets of RTS have been proposed [4,5]. Mutations in RECQL4 are present in approximately one third of the clinically diagnosed RTS patients (RTS type II) and these patients phenotype is characterised by poikiloderma, bone defects and an incresased risk of osteosarcoma. In RTS type I patients, no RECQL4 mutations are found and poikiloderma, juvenile cataracts and ectodermal dysplasia dominate the clinical presentation [4]. The human RECQL4 gene consists of 21 exons spanning 6.5kb and encodes for a 1208 aminoacids protein [6]. There is evidence that RECQL4 plays multiple key roles in DNA metabolism, as it is involved in single-stranded DNA annealing activity, DNA replication, double strand break repair, and repair of UV or ionizing radiation induced DNA damage [7]. RTS and the function of RECQL4 have recently been excellently reviewed by Larizza et al [8].We present a patient with RTS and
Histopathological Features Of Granulomatous Skin Diseases : An Analysis Of 22 Skin Biopsies  [cached]
Dhar Subhra,Dhar Sandipan
Indian Journal of Dermatology , 2002,
Abstract: In the present study, skin biopsies were analysed for histopathological (HP) changes in 22 patients with various granulomatous dermatoses. In 6 specimens, HP features were diagnostic of BT leprosy, in 1 each of BB, BL and historid LL. The HP features were was lupus valugaris (LV) in 6 biopsies, tuberculosis verrucosa cutis (TBVC) in 2, sarcoidosis in 3 and sporotrichosis in remaining 2. The study reiterated the usefulness of HP examination of all suspected cases of granulomatous skin diseases.
Immunopathology of skin lesions
Khan Nazoora,Maheshwari Veena,Trivedi Indu,Kalam Abul
Indian Journal of Dermatology, Venereology and Leprology , 2001,
Abstract: A study was conducted on 130 patients suffering from skin lesions which included psoriasis, lichen planus, DLE, pemphigus, vitiligo and alopecia areata. Forty age-and-sex-matched healthy individuals served as control. Serum IgG, IgM, and circulating immune complexes (CIC) were estimated. Significant increase in serum IgG (1937.2 ± 1030.43 mg%) and IgM (232.12 ± 136.98 mg%) was observed in all the skin lesions when compared with controls except in lichen planus where they were significantly lowered, values being 580.61± 77.35 mg% and 66.88 ± 6.59mg% respectively. CIC levels were significantly raised (P<0.00 1) in various skin lesions (40.49±23.29) when compared with controls (17.68± 3.21), but no significance was observed in lichen planus( 17.72 ± 4.28). Serum IgG, IgM and CIC were statistically significantly altered depending on the extent of the lesion and lowered significantly to almost normal values following treatment, thereby confirming the role of immunity in the pathogenesis of these skin disorders.
Inflammatory Myofibroblastic Tumor of the Trachea with Concomitant Granulomatous Lymph Node Lesions
Julia Anne Koch,Patrick Dorn,Thierry Rausch,Hans-Beat Ris,Hans-Anton Lehr,Stephan C. Sch fer
Case Reports in Medicine , 2011, DOI: 10.1155/2011/151729
Abstract: We report herein the case of a 57-year-old lady who had two concomittant lesions, an inflammatory myofibroblastic tumor in the trachea, and severe granulomatous lesions in the adjacent hilar lymph nodes. While these two lesions shared histological and some immunohistochemical features lesions. They differed in terms of ALK-1 expression, which was positive in the tracheal tumor and negative in the lymph nodes. The discussion of the case circles around putative pathophysiological links between the lesions. The authors favor the idea that the lymph nodes present a sarcoid-like granulomatous reaction to the inflammatory myofibroblastic tumor in the trachea over a coexistence of two independent entities. However, no conclusive evidence for this interpretation can be presented based on the existing literature.
Non-specific granulomatous inflammatory lesions of small bowel.  [cached]
Bapat R,Ravishankar D,Rohandia O,Joshi A
Journal of Postgraduate Medicine , 1995,
Abstract: The entity of nonspecific granulomatous inflammatory lesions(NSGIL) of the small bowel is a diagnostic and therapeutic dilemma. Data of 52 histopathologically proven cases of NSGIL seen by us between 1986 and 1991 were analysed. All these patients presented with either intestinal obstruction or perforation. They were thoroughly evaluated and investigated for tuberculosis. Of the 52 patients, 6 patients received antitubercular therapy (ATT) before and after surgery and 32 patients only after surgery. Fourteen patients did not receive ATT. Surgical procedures undertaken included stricturoplasty, resection/anastomosis and simple suturing of perforation. No complications were seen in patients who received ATT; however, six of 14 patients who did not receive ATT developed wound sepsis and 2 developed partial wound dehiscence. Many of these NSGIL lesions could be tuberculous in etiology though typical caseating granulomas were not seen.
Measurement of some biophysical parameters in skin lesions of leprosy  [cached]
Gupta A,Tutakne M,Haldar B
Indian Journal of Dermatology, Venereology and Leprology , 1990,
Abstract: Transepidermal water loss (TEWL), high frequency electrical conductance (HFC) and the hydration state index (HSI) were measured in sldn lesions of 30 paucibacillary leprosy patients and compared with the contralateral uninvolved skin. While the TEWL, HFC and HSI all showed lower values in the lesion site, as compared to the contralateral skin sites, the differences between the two sets of values significant in HFC and. HSI only at 2% and 1% level respectively. A significant positive correlation (r = 0.69) was found to eidst between these two parameters. The parameters correlate well with the known reduced sweating in skin lesions of TT and BT leprosy and may therefore be considered as good objective parameters to confirm hypohydrosis in suspected skin lesions ofleprosy.
Dermatitis Herpetiformis: From the Genetics to the Development of Skin Lesions
Diletta Bonciani,Alice Verdelli,Veronica Bonciolini,Antonietta D'Errico,Emiliano Antiga,Paolo Fabbri,Marzia Caproni
Clinical and Developmental Immunology , 2012, DOI: 10.1155/2012/239691
Abstract: Dermatitis herpetiformis (DH) is a rare autoimmune disease linked to gluten sensitivity with a chronic-relapsing course. It is currently considered to be the specific cutaneous manifestation of celiac disease (CD). Both conditions are mediated by the IgA class of autoantibodies, and the diagnosis of DH is dependent on the detection of granular deposits of IgA in the skin. There is an underlying genetic predisposition to the development of DH, but environmental factors are also important. This paper describes these different factors and discusses the known mechanism that lead to the development of skin lesions.
Incidental finding of skin deposits of corticosteroids without associated granulomatous inflammation: Report of three cases  [cached]
Joshi Rajiv
Indian Journal of Dermatology, Venereology and Leprology , 2008,
Abstract: Three cases are described in whom deposits of depot steroids were seen in skin biopsies done for diagnostic purposes. In the first case the skin lesion was clinically suspected to be due to the steroid injected more than a year ago and a diagnosis of pseudo-morphea due to steroid injection was made by the clinician. The other cases had clinical diagnoses of dermatofibroma and morphea with no clinical suspicion of previous steroid injection. The steroid deposits were present in the subcutaneous fat in all three cases. Histologically the findings were distinctive with collections of acellular, amorphous, fuzzy basophilic material surrounded by lipophages and disrupted adipocytes (in Case 2) and without any significant inflammatory infiltrate or granulomatous reaction (in Cases 1 and 3). The absence of inflammatory and granulomatous responses were the findings at variance with the cases described earlier in the literature.
Frequency of Infectious Skin Lesions in Kidney Transplant Recipients  [cached]
Masoomeh Alimagham,Saeed Amini-Afshar,Siamak Farahmand,Aydin Pour-Kazemi
Urology Journal , 2005,
Abstract: Introduction: This study was performed to evaluate the frequency of skin lesions in kidney transplant recipients. Materials and Methods: A total of 681 kidney transplant recipients were followed at Shaheed Labbafinejad transplant center in Tehran, Iran. Skin lesions were evaluated, and diagnoses were made clinically and confirmed by lesion smear, tissue biopsy, tissue culture, and serologic examinations, as indicated. Results: Skin lesions were found in 54 patients (7.9%), and their frequencies were as follows: dermatomal herpes zoster (18 patients, 2.6%, 13 men and 5 women), herpes simplex infection of face and lips (15 patients, 2.2%, 5 men and 10 women), chickenpox (6 patients, 0.9%, 5 men and 1 woman), Kaposi's sarcoma (5 patients, 0.7%, 3 men and 2 women), warts (4 women, 2 of whom had genital warts), pyoderma gangrenosum (1 man, 0.14%), multiple fungal abscesses of the leg (1 man, 0.14%), mucormycosis (1 man, 0.14%), and molluscum contagiosum (1 man, 0.14%). Moreover, 2 women (0.3%) had generalized herpes simplex lesions. Conclusion: Frequencies of herpes zoster (3.5%), herpes simplex (2.5%), and human papillomavirus (0.6%) infections in our kidney transplant recipients were low. We recommend that all kidney transplant candidates be evaluated and immunized for herpes zoster virus before transplantation, all herpetic-form lesions of these patients be reported to physicians (even mild lesions), and finally, that all human papillomavirus lesions be diagnosed and treated promptly to prevent more serious lesions such as malignancies.
Dermoscopic Features of Facial Pigmented Skin Lesions  [PDF]
Yana Goncharova,Enas A. S. Attia,Khawla Souid,Inna V. Vasilenko
ISRN Dermatology , 2013, DOI: 10.1155/2013/546813
Abstract: Four types of facial pigmented skin lesions (FPSLs) constitute diagnostic challenge to dermatologists; early seborrheic keratosis (SK), pigmented actinic keratosis (AK), lentigo maligna (LM), and solar lentigo (SL). A retrospective analysis of dermoscopic images of histopathologically diagnosed clinically-challenging 64 flat FPSLs was conducted to establish the dermoscopic findings corresponding to each of SK, pigmented AK, LM, and SL. Four main dermoscopic features were evaluated: sharp demarcation, pigment pattern, follicular/epidermal pattern, and vascular pattern. In SK, the most specific dermoscopic features are follicular/epidermal pattern (cerebriform pattern; 100% of lesions, milia-like cysts; 50%, and comedo-like openings; 37.50%), and sharp demarcation (54.17%). AK and LM showed a composite characteristic pattern named “strawberry pattern” in 41.18% and 25% of lesions respectively, characterized by a background erythema and red pseudo-network, associated with prominent follicular openings surrounded by a white halo. However, in LM “strawberry pattern” is widely covered by psewdonetwork (87.5%), homogenous structureless pigmentation (75%) and other vascular patterns. In SL, structureless homogenous pigmentation was recognized in all lesions (100%). From the above mentioned data, we developed an algorithm to guide in dermoscopic features of FPSLs. 1. Introduction Until now, almost only melanocytic lesions selected on the basis of their clinical atypia or which appear equivocal on naked eye examination have been shown to benefit from the use of dermoscopy. In our experience, dermoscopic evaluation of pigmented lesions located on the face may require a different approach, as many of them are nonmelanocytic in nature. Moreover, at this site, dermoscopy reveals specific criteria according to the particular histological architecture shown by sun-damaged skin [1]. For example, under dermoscopy, the presence of a pseudonetwork is characteristic of pigmented nonmelanocyte lesions on the face. This feature may not be related to the rete ridges of the epidermis—which are absent or blunted due to the anatomy of the skin in this area and to photoaging—but is due to the interruption of the homogeneous pigmentation by the openings of hair follicle ostia and adnexal structures [2]. Hence, four types of facial pigmented skin lesions (FPSLs) constitute diagnostic challenge to dermatologists, namely, early seborrheic keratosis (SK), pigmented actinic keratosis (AK), lentigo maligna (LM), and solar lentigo (SL). We aimed to analyze the dermoscopic patterns of
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