Ehsen Ben Brahim

Adenomatous transformation in hamartomatous polyps cases of two patients with Peutz–Jeghers Syndrome

Dear Editor: Peutz–Jeghers syndrome (PJS) is an inherited syndrome with autosomal dominant trait. It is characterised by mucocutaneous melanin spotty pigmentation on the lips, buccal mucosa and digits, associated with hamartomatous polyps within the digestive tract, preferentially affecting the small intestine. Peutz–Jeghers polyps were considered to be a benign lesion without any malignant potential. However, it has been recently reported that more than 10% of patients with PJS were found to develop at a subsequent stage, by means of long follow-up studies, gastrointestinal cancer. To further an understanding of the relationship between hamartomatous polyps and neoplasms, we report two unusual cases supporting the adenomatous transformation in hamartomatous polyps. Our first patient was a 14-year-old boy, admitted in 2001 for acute abdominal pain and vomiting related to a subocclusive syndrome. He reported a 2-year history of watery diarrhoea, associated with an intermittent abdominal pain. On physical examination, the patient was pale with small and spotty pigmented lesions on the lips, cheekbones and cheek mucosa. We found bilateral gynecomasty. Abdominal palpation discovered a painful and bloated abdomen. Rectal examination revealed neither bleeding nor mass. Biologic investigation showed haemoglobin of 8.2 g/dl and a decrease of the albumin rate. Abdominal ultrasonography revealed a feature of an intussusception in the small bowel. Gastrointestinal and small bowel contrast radiography showed multiple polyps of the small bowel of variable size. Colonoscopy detected polyps of the coecum. Upper gastrointestinal tract endoscopy showed a giant gastric polyp situated in the corpus. In front of this clinical manifestation, the diagnosis of PJS was suspected, and the acute abdominal pain was explained by intestinal intussusception requiring surgical decompression. At laparotomy, an ileoileal intussusception was identified extending on 20 cm in length, located at 1.50 m far from the coecum and caused by a protruding polyp of 5 cm in size. The latter was removed by enterotomy and polypectomy from a small longitudinal incision of 2–3 cm. Twenty-three additional small intestinal polyps were identified and removed, with minimal enterotomies being carried out at the base of the largest polyps. During the same operation, the gastric polyps were excised by a cross gastrostomy and large mucosectomy. A total of 24 intestinal polyps associated with numerous gastric agglomerated little polyps were exanimate. The polyps measured 1–5 cm in length. The surface was irregular, convoluted and underwent a villous feature. Histological examination of the specimens demonstrated a tree-like feature, with an abnormal branching pattern and a hyperplasia of the epithelium in all polyps. Some glands were cystic. Cores of smooth muscle fibres were admixed. Some of the polyps exhibited focal areas of inflammation Int J Colorectal Dis (2009) 24:1361–1363 DOI 10.1007/s00384-009-0728-9

Immunohistochemistry in the diagnosis of dysplasia in chronic inflammatory bowel disease colorectal polyps

BACKGROUND AND STUDY AIMSnDevelopment of cancer is the most significant complication in inflammatory bowel disease (IBD). Distinguishing true dysplasia from reactive atypia in polyps is difficult, leading sometimes to the unsatisfactory diagnosis of indefinite for dysplasia. Therefore, there is a need for the development of markers that can help improve diagnosis. We evaluated the diagnostic value of the expression of AMACR, Ki67 and p53 by immunohistochemistry in the diagnosis of dysplasia in polyps developed on IBD.nnnPATIENTS AND METHODSnForty colorectal polyps in IBD were studied. These had been diagnosed over a period of 11years. Dysplasia was classified according to the Vienna Classification (version 2000). Immunohistochemistry was performed using anti-AMACR, anti-Ki67 and anti-p53 antibodies.nnnRESULTSnPolyps were classified as follows: 21 negative for dysplasia (ND), 10 indefinite for dysplasia (IFD), 6 low-grade dysplasia (LGD), 1 high-grade dysplasia (HGD) and 2 adenocarcinomas (ACA). AMACR positivity was observed in all polyps with HGD and ACA, 5 of the 6 LGD polyps and 3 of the 10 IFD (p=0.007). p53 immunostaining showed nuclear staining in the basal part of the crypts in 8 of the 10 IFD lesions. In ACA and HGD polyps, p53 positivity was typically observed in all epithelial cell layers (p=0.004). ACA and HGD showed diffuse and scattered staining of Ki67 along the full length of the crypts. Five lesions with LGD had extension of Ki-67 positive cells up to and into the surface epithelium. Ki67 staining in all IFD lesions was restricted to the basal third of the crypt (p<0.001). By combining the three markers, a relationship with dysplasia was statistically significant (p<0.001). Sensitivity ranged from 66.7% to 88.9% and specificity from 71.4% to 100%. The positive predictive value (PPV) for detecting dysplasia using these different antibodies ranged from 66.7% to 100% and the negative predictive value (NPV) for excluding dysplasia ranged from 85.7% to 93.3%.nnnCONCLUSIONSnThe high degree of sensitivity and specificity of AMACR, p53 and Ki67 for dysplasia in IBD suggests that these antibodies, when combined, may be useful to detect neoplastic epithelium in this condition.

My Daughter Has Thin and Short Hair

A 16-year-old female presented to our dermatology department for a history of congenital hypotrichosis. She was born from a consanguineous marriage. Her sister and brother also suffered from sparse and fragile hair. Dermatologic examination revealed diffuse hypotrichosis with sparse, short, and broken hair on her entire scalp (Fig. 1). Her hypotrichosis was more pronounced on her occipital scalp. She also had small keratotic papules on her occipital region. Her eyebrows and eyelashes were not affected. There were no tooth nor nail abnormalities. There was no evidence of mental retardation, epilepsy, or systemic diseases.

Unconventional use of fractional ablative CO2 laser in necrobiosis lipoidica

Dear Sir, Necrobiosis lipoidica is a rare noninfectious granulomatous disease classically associated with diabetes mellitus. It is characterized by collagen degeneration, granuloma formation, and endothelial swelling (1). It is a cosmetically displeasing condition affecting the patient’s quality of life. Usually necrobiosis lipoidica is treated with either topical or systemic therapies with an unsatisfactory response. The use of ablative fractional CO2 laser in the treatment of necrobiosis lipoidica has been rarely reported in the literature. Herein, we report a case of necrobiosis lipoidica successfully improved with ablative fractional CO2 laser. A female patient aged 32 years old with a past medical history of diabetes since 5 years was referred to our department for multiple cutaneous lesions located on her left foot and left leg since 3 years. Dermatological examination revealed multiple annular pigmented lesions with central atrophy in her left leg in addition to two annular erythematous plaques with whitish scales on the dorsum of her left foot (Figure 1(a, b)). According to her history and her clinical findings, necrobiosis lipoidica was suspected and a skin biopsy was performed on the affected skin. Histopathological examination revealed palisading granulomas surrounding large foci of necrobiosis involving the entire dermis and extending into the subcutaneous fat septa confirming the diagnosis of necrobiosis lipoidica. The patient was initially treated with topical corticosteroids for 2 months with no successful results. She was then scheduled to be treated with hydroxychloroquine. Ophthalmologic examination done before initiating hydroxychloroquine found retrobulbar optic neuritis contraindicating the use of this treatment. After giving written informative consent, the patient was treated with ablative fractional CO2 laser. This treatment alternative was proposed to the patient as an experimental approach. The patient was treated with ablative fractional CO2 laser (CO2 Limmer laser). Three sessions were performed with a 2-month interval. The session was performed under local anesthetic using 125 mm hand-piece, 10 mm spot, 25% density, and 10 Watts energy. At the end of the procedure, the wound was covered with topical fusidic acid ointment. The patient was seen 4 weeks after laser treatment. Neither scar nor pigmentary disorders nor skin ulceration were noted. After the third session, there was a significant improvement of the cutaneous lesions with a softening of the lesions, disappearance of scales, and improvement of the central atrophy of the lesions (Figure 2a, b). Necrobiosis lipoidica is characterized by yellow-brown atrophic telangiectasic plaques in the pretibial surface. The plaques are usually multiple and bilateral (2). Many treatment alternatives could be proposed to treat this skin condition such as phototherapy, photodynamic therapy, topical tacrolimus, topical corticosteroids and intralesional corticosteroids, hydroxychloroquine, infliximab, and etanercept with variable response (1). Improving glycemic control may contribute to necrobiosis lipoidica resolution, but this hypothesis is still controversial (3). Few cases of necrobiosis lipoidica were treated with laser therapy. The largest study is that of Buggiani et al. (4), which treated 11 patients affected with necrobiosis lipoidica with fractional CO2 laser with a significant improvement in 9 patients. Two other studies conducted by Moreno Arias et al. and Currie et al. (5,6) reported two cases of stable necrobiosis lipoidica treated with the pulsed dye laser with an improvement of their skin condition. Since fractional photothermolysis stimulates collagen formation and remodeling (7,8), its use in this skin condition where there is collagen degeneration could be very useful as seen in our case. Necrobiosis lipoidica could be very inesthetic with an impairment of the patient’s quality of life. This case illustrates that fractional resurfacing appears to be a new promising modality for an effective treatment of stable necrobiosis lipoidica with a safe and acceptable side effect profile. More studies are needed to confirm the immunomodulatory effect of fractional photothermolysis in the treatment of necrobiosis lipoidica.

An acute acral papulovesicular eruption

A 58-year-old female patient was referred to our department for an acute acral vesiculobullous eruption present for 3 days. Her past medical history was unremarkable. The sudden onset of the painful vesiculobullous lesions (within 3 days) was extremely troublesome to the patient. Cutaneous examination revealed multiple erythematous and edematous round plaques with overlying ulcerated bullae and vesicular lesions on the forearms (Fig. 1a). Her oral mucosa was involved since she had superficial erosions on the lips with aphthous lesions (Fig. 1b). Concomitant with the cutaneous eruption, she also had a red painful right eye with no blurred vision. Ophthalmologic examination revealed two scleral nodules with surrounding episcleral injection located on the temporal and medial aspects of the right eye (Fig. 1c). The cornea was clear, and there was no anterior chamber activity consistent with the diagnosis of nodular scleritis. The patient also complained of fever and arthralgia of the knees and ankles. Laboratory investigation was notable with elevated leukocyte count with neutrophilia (neutrophils 87%). The erythrocyte sedimentation rate and C-reactive protein concentration were elevated at 80 mm and 54 mg/l, respectively. Renal and liver function were normal. HIV serology was also performed and was nonreactive.

Expression of epidermal growth factor receptor (EGFR) in colorectal cancer: An immunohistochemical study

BACKGROUND AND STUDY AIMnThe epidermal growth factor receptor (EGFR) plays an important role in tumourigenesis and tumour progression of colorectal cancer (CRC) and leads to the activation of intracellular signaling pathways. The use of anti-EGFR-targeted therapy has increased for patients with metastatic CRC. Today, the clinical utility of immunohistochemistry has remained somewhat inconclusive. It is based on EGFR screening methods using paraffin-embedded tumour specimen to select patients eligible for treatment. There is still lack of agreement on reproducible scoring criteria for EGFR immunohistochemistry has in various clinical trials.nnnPATIENTS AND METHODSnWe retrospectively reviewed 36 CRC patients who underwent surgeries during 2011 in Habib Thameur hospital in Tunis. We analyzed the immunohistochemical overexpression of EGFR using a score based on immunostaining intensity. In addition, we analyzed the correlation between this overexpression and patients clinicopathologic parameters.nnnRESULTSnThe positive expression rate of EGFR was 78% (28/36). Using the immunoreactivity score, 21 cases were considered low grade expression and 15 tumours were high grade. Immunohistochemical expression of EGFR showed a significant difference with tumours location (pu202f=u202f0.034) and vascular invasion (pu202f=u202f0.03). This expression was not significantly associated with age, gender, tumour size, histological type, grade, TNM staging and perineural invasion.nnnCONCLUSIONSnEGFR expression by immunohistochemistry in CRC is variably correlated with clinicopathological parameters. Its assessment by this method has still not proved its predictive value.

The Value of Intra-Operative Frozen Section in Thyroid Neoplasm Management: Experience of One Center

Aim: To review our own experience with Frozen section (FS) in thyroid surgery and to assess its value in the management of patients with thyroid disease. nMethods: This retrospective study examined the results of 1110 frozen sections of thyroid specimens analyzed over the 10 year period from 2003 through 2012 and their correlations with the final histological examination. Deferred responses were not taken into account for statistical calculations. nResults: In our series, FS and final histopathological diagnosis agreed in 85.4% and disagreed in 5.5%. 9.1% of the cases were deferred. The global specificity and sensitivity of FS analysis for all histological subtypes were 99.3% and 64.7% respectively. Its sensitivity for papillary carcinoma was 61.7%, 83.3% for follicular carcinoma and 100% for anaplastic carcinoma. Discordances were due to 6 false-positive diagnoses and 55 false-negative (FN) diagnoses. 50% of FN was represented by papillary micro-carcinoma. The positive predictive value (PPV) of the FS examination was 94.4% and its negative predictive value (NPV) was 93.9%. nConclusions: Our data supports the utility of intraoperative FS in the confirmation of malignancy of thyroid nodules. It’s correlated with a high degree of specificity and an acceptable rate of sensitivity. Most of the discordances between FS and final histopathological diagnosis were explained by papillary microcarcinoma.

Intranodal Palisaded Myofibroblastoma in a Submandibular Lymph Node

Intranodal palisaded myofibroblastoma (IPM), also known as “intranodal hemorrhagic spindle cell tumor with amianthoid fibers,” is a rare benign mesenchymal tumor originating from smooth muscle cells and myofibroblasts, often with the presence of amianthoid fibers. Usually IPM affects inguinal lymph nodes, but three cases have been described in the submandibular and cervical lymph nodes. We report a new case of a 44-year-old women with submandibular mass. Cervical ultrasound showed a suspect right submandibular adenomegaly. The patient underwent an excision of the submandibular mass. Histological features of the tumor include an encapsulated fusocellular proliferation, with nuclear palisading, amianthoid fibers, hemosiderin pigment, and extravasated erythrocytes. In the light of these results, we made the diagnosis of IPM. No recurrence was found 5 years after surgery.