Raja Jouini

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

K(MoO2)4O3(AsO4)

A new compound with a non-centrosymmetric structure, potassium tetra-kis-[dioxomolybdenum(IV)] arsenate trioxide, K(MoO2)4O3(AsO4), has been synthesized by a solid-state reaction. The [(MoO2)4O3(AsO4)](+) three-dimensional framework consists of single arsenate AsO4 tetra-hedra, MoO6 octa-hedra, MoO5 bipyramids and bi-octa-hedral units of edge-sharing Mo2O10 octa-hedra. The [Mo2O8]∞ octa-hedral chains running along the a-axis direction are connected through their corners to the AsO4 tetra-hedra, MoO6 octa-hedra and MoO5 bipyramids, so as to form large tunnels propagating along the a axis in which the K(+) cations are located. This structure is compared with compounds containing M 2O10 (M = Mo, V, Fe) dimers and with those containing M 2O8 (M = V) chains.A new compound with a non-centrosymmetric structure, potassium tetrakis[dioxomolybdenum(IV)] arsenate trioxide, K(MoO2)4O3(AsO4), has been synthesized by a solid-state reaction. The [(MoO2)4O3(AsO4)]+ three-dimensional framework consists of single arsenate AsO4 tetrahedra, MoO6 octahedra, MoO5 bipyramids and bioctahedral units of edge-sharing Mo2O10 octahedra. The [Mo2O8]∞ octahedral chains running along the a-axis direction are connected through their corners to the AsO4 tetrahedra, MoO6 octahedra and MoO5 bipyramids, so as to form large tunnels propagating along the a axis in which the K+ cations are located. This structure is compared with compounds containing M 2O10 (M = Mo, V, Fe) dimers and with those containing M 2O8 (M = V) chains.

Disodium tris­(dioxidomolybdenum) bis­(diarsenate)

The asymmetric unit of the title compound, Na2(MoO2)3(As2O7)2, is composed of two cyclic MoAs2O11 units and an MoO6 corner-sharing octahedron. The anionic framework can be decomposed into two types of layers, viz. MoO2As2O7 and Mo2As2O14, which use mixed Mo—O—As and As—O—Mo bridges to achieve a new three-dimensional structure with two types of large channels in which the Na+ cations are located. Two O atoms are disordered and are located in two positions close to their initial positions with occupancy ratios of 0.612 (17):0.388 (17) and 0.703 (12):0.298 (12).

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.

H syndrome: Clinical, histological and genetic investigation in Tunisian patients

H syndrome is a rare autosomal recessive disorder with characteristic dermatological findings consisting of hyperpigmentation and hypertrichosis patches mainly located on the inner thighs and multisystemic involvement including hepatosplenomegaly, hearing loss, heart abnormalities and hypogonadism. The aim of this study was to conduct a clinical and genetic investigation in five unrelated Tunisian patients with suspected H syndrome. Hence, genetic analysis of the SLC29A3 gene was performed for four patients with a clinical diagnosis of H syndrome. We identified a novel frame‐shift mutation in the SLC29A3 gene in a female patient with a severe clinical presentation. Furthermore, we report two mutations previously described, the p.R363Q mutation in a male patient and the p.P324L mutation in two patients of different age and sex. This paper extends the mutation spectrum of H syndrome by reporting a novel frame‐shift mutation, the p.S15Pfs*86 in exon 2 of SLC29A3 gene and emphasizes the relevance of genetic testing for its considerable implications in early diagnosis and clinical management.

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.

An annular pruritic eruption

A 36-year-old female patient presented with a 3-month history of a pruritic eruption on the trunk and extremities. She had no past medical history. Clinical examination revealed erythematous gyrate annular and edematous lesions with clusters of small vesicles arranged in a herpetiform pattern affecting the anterior and posterior skin of the trunk and the upper and lower limbs. There were multiple papules, vesicles, and crusted excoriations on an erythematous background on the trunk (Fig. 1a, b). Besides, there was no mucosal involvement.

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. Methods: 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. Results: 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%. Conclusions: 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.

Kaposi’s Sarcoma Presenting as Lymphadenopathy in an Immunocompetent Patient

Introduction Kaposi’s sarcoma (KS) is an angioproliferative disorder first described in 1872 by Moritz Kaposi. Four main clinical presentations of KS have been described: classic, endemic, iatrogenic and epidemic. KS involvement of the lymph nodes is extremely uncommon in the classical variant form, especially if it precedes the skin manifestations. We describe the case of an elderly HIV-negative patient presenting with lymphadenopathy who was found to have KS. Case Report A 67-year-old patient was admitted for exploration of polyadenopathies in the context of a general decline in health. Physical examination revealed an erythematosus left lower limb rash associated with angiomatous nodules and multiple lymphadenopathies. The diagnosis of erysipelas in the left leg was retained and the patient was treated with good evolution of the rash but persistence of the angiomatous nodules and the polyadenopathies. Skin and lymph node biopsies led to a diagnosis of KS. The patient is proposed for polychemotherapy. Conclusion KS must be suspected in lymphadenopathies despite the absence of typical cutaneous signs of the disease and in immunocompetent patients. LEARNING POINTS Involvement of the lymph nodes is extremely uncommon in the classical variant form of Kaposi’s sarcoma (KS). Human herpes virus-8 is an important cofactor in all forms of KS. Pathology and immunohistochemistry are key to diagnosing KS. KS must be suspected in lymphadenopathies without typical cutaneous signs of the disease and in immunocompetent patients.