Epidermodysplasia verruciformis in lipoid proteinosis: case report and discussion of pathophysiology.

Lipoid proteinosis (LP) is a rare autosomal recessive genodermatosis caused by mutations in extracellular matrix protein 1 (ECM1) that involves deposition of basement membrane-like material in the skin and other organs. Epidermodysplasia verruciformis (EV) is also a rare autosomal recessive genodermatosis involving susceptibility to human papillomavirus (HPV) infections and squamous cell carcinoma, caused in most cases by homozygous mutations in EVER1 or EVER2. We describe a case of EV in a patient with LP and discuss the pathophysiology. A 3-year-old Lebanese girl presented with hoarseness, beaded papules along the eyelid margins, waxy papules and plaques on her head and neck, and lichenoid verrucous papules on the forearms and hands. Histopathology of the waxy papules exhibited deposition of periodic acid Schiff-positive basement membrane-like material in the superficial dermis, characteristic of LP. The verruca plana-like lesions exhibited acanthosis and enlarged keratinocytes with pale blue-grey cytoplasm and a perinuclear halo, consistent with verrucae and EV. Polymerase chain reaction amplification and sequencing of ECM1, EVER1, and EVER2 demonstrated a homozygous point mutation, c.389C>T (p.Thr130Met), in exon 6 of ECM1 and a heterozygous point mutation, c.917 A>T (p.Asn306Ile), in exon 8 in EVER2, known to cause EV in homozygous patients. The homozygous point mutation c.389C>T in ECM1 may be a novel mutation causing LP. Verruca plana-like lesions seen in LP appear to represent a form of acquired EV. In this patient, a heterozygous mutation in EVER2 at c.917 A>T may also have conferred susceptibility to HPV infection.

An unusual case of turban tumor syndrome treated with total scalp excision and advancement flap and skin graft reconstruction.

We report an unusual case of aggressive turban tumor syndrome in a 38-year-old woman with nodules covering her scalp and involving her face, neck, chest, and back. To address concerns regarding hygiene of the scalp and cosmetic disfigurement, she underwent total scalp excision with advancement flap and skin graft reconstruction. Histologic examination of the scalp tumors revealed a predominance of spiradenomas, along with cylindromas and trichoepitheliomas, and tumors containing elements of all 3 of these adnexal neoplasms. We review the literature regarding turban tumor syndrome including the genetic basis for this condition, clinical features, pathology, and treatment.

Development of an in vitro model for study of the efficacy of ischemic preconditioning in human skeletal muscle against ischemia-reperfusion injury.

Ischemia-reperfusion (I/R) injury causes skeletal muscle infarction and ischemic preconditioning (IPC) augments ischemic tolerance in animal models. To date, this has not been demonstrated in human skeletal muscle. This study aimed to develop an in vitro model to investigate the efficacy of simulated IPC in human skeletal muscle. Human skeletal muscle strips were equilibrated in oxygenated Krebs-Henseleit-HEPES buffer (37 degrees C). Aerobic and reperfusion phases were simulated by normoxic incubation and reoxygenation, respectively. Ischemia was simulated by hypoxic incubation. Energy store, cell viability, and cellular injury were assessed using ATP, 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyl-2H-tetrazolium bromide (MTT), and lactate dehydrogenase (LDH) assays, respectively. Morphological integrity was assessed using electron microscopy. Studies were designed to test stability of the preparation (n = 5-11) under normoxic incubation over 24 h; the effect of 1, 2, 3, 4, or 6 h hypoxia followed by 2 h of reoxygenation; and the protective effect of hypoxic preconditioning (HPC; 5 min of hypoxia/5 min of reoxygenation) before 3 h of hypoxia/2 h of reoxygenation. Over 24 h of normoxic incubation, muscle strips remained physiologically intact as assessed by MTT, ATP, and LDH assays. After 3 h of hypoxia/2 h of reoxygenation, MTT reduction levels declined to 50.1 +/- 5.5% (P < 0.05). MTT reduction levels in HPC (82.3 +/- 10.8%) and normoxic control (81.3 +/- 10.2%) groups were similar and higher (P < 0.05) than the 3 h of hypoxia/2 h of reoxygenation group (45.2 +/- 5.8%). Ultrastructural morphology was preserved in normoxic and HPC groups but not in the hypoxia/reoxygenation group. This is the first study to characterize a stable in vitro model of human skeletal muscle and to demonstrate a protective effect of HPC in human skeletal muscle against hypoxia/reoxygenation-induced injury.

Novel case of generalized multinucleate cell angiohistiocytoma.

BACKGROUND: multinucleate cell angiohistiocytoma is a rare benign fibrohistiocytic and vascular proliferation, typically characterized by the development of solitary papules, in an acral distribution in otherwise healthy late middle-aged to elderly women. OBJECTIVE: our objectives are to present a novel case of generalized multinucleate cell angiohistiocytoma and to review the current literature regarding the clinical and histologic findings in this condition, as well as its potential causes and treatments. OBSERVATIONS: we describe a 35-year-old man who presented with generalized asymptomatic firm violaceous papules. Histopathology revealed dermal vascular proliferation; a perivascular infiltrate of lymphocytes, histiocytes, neutrophils, and plasma cells; thickened surrounding collagen bundles; and characteristic multinucleate cells with scalloped borders. CONCLUSION: our patient is one of three patients reported to date with generalized lesions of multinucleate cell angiohistiocytoma who were all in a younger age group (20-40 years old) than previously reported for solitary lesions.

Prospective study of outcomes after reduction mammaplasty: long-term follow-up.

BACKGROUND: The purpose of this prospective study was to determine whether the beneficial effects of reduction mammaplasty are maintained over the long term in a Canadian population and to determine whether reduction mammaplasty facilitates weight loss in the overweight patient. METHODS: The Short Form-36, Rosenberg Self-Esteem Scale, and Symptom Inventory Questionnaire were used to assess 57 patients preoperatively and postoperatively at 6 months and 21.5 months. Surgeons completed preoperative, operative, and postoperative patient assessment forms to collect anthropometric, procedural, and postoperative complication data. RESULTS: Stable and significant improvements were found in all three outcomes questionnaires when compared preoperatively and 6 and 21.5 months postoperatively. The Short Form-36 indicated significant improvements (p < 0.05) in seven of the eight health status domains and the physical summary score, suggesting that the procedure primarily benefits physical aspects of health. Scores also improved on the Rosenberg Self-Esteem Scale (p < 0.0001) and symptoms improved on the Symptom Inventory Questionnaire (p < 0.0001) in patients 6 and 21.5 months after reduction mammaplasty. The patients had significant health deficits preoperatively compared with the normal population. Preoperative mean Short Form-36 scores were significantly lower in several areas (p < 0.005). The health deficits were eliminated at 6 months and showed a normalization effect at 21.5 months. Patients with a body mass index greater than 27 kg/m (n = 26; 1 kg = 2.2 lbs.) showed a significant decrease in weight and body mass index at long-term follow-up at 21.5 months postoperatively (p < 0.003). CONCLUSIONS: The long-term results of reduction mammaplasty indicate that this procedure is an effective method to reduce or alleviate both physical and psychological symptoms associated with macromastia. This study shows that this procedure should be covered under Canadian medical insurance plans.

Endometriosis in the canal of Nuck: Atypical manifestations in an unusual location.

The canal of Nuck is an embryological remnant of the processus vaginalis and has been described as a site for endometriosis seeding. Endometriosis localized to the canal of Nuck is exceedingly rare with three cases reported. The case of a 31-year-old woman with an endometrioma in the canal of Nuck, made diagnostically challenging by atypical imaging and clinical findings, is described.

Le canal de Nuck est un vestige embryologique du processus vaginalis et est décrit comme un foyer d'essaimage de l'endométriose. L'endométriose située dans le canal de Nuck est d'une extrême rareté, puisque trois cas ont été déclarés. Le cas d'une femme de 31 ans atteinte d'endométriose du canal de Nuck, dont le diagnostic a été compliqué par une imagerie et des observations cliniques atypiques, est présenté.