Keratosis follicularis spinulosa decalvans: confirmation of linkage to Xp22.13-p22.2

The authors report a case of presumed idiopathic chronic iridocyclitis in which an intraocular foreign body (IOFB) was finally identified. There was no history of prior eye trauma. Ophthalmologic and laboratory evaluations were inconclusive. Seven months following unsuccessful medical treatment of the iritis and given the patient's occupational history, a skull x-ray was performed followed by computed tomography of the orbits. A metallic IOFB was identified in the pars plicata and was surgically removed with resolution of the inflammation. The possibility of an IOFB should always be entertained in idiopathic iridocyclitis refractory to medical treatment, even when there is no history of ocular trauma.     

Tufted folliculitis of the scalp: a distinctive clinicohistological variant of folliculitis decalvans

Tufted folliculitis is an uncommon folliculitis of the scalp that resolves with patches of scarring alopecia within which multiple hair tufts emerge from dilated follicular orifices. The clinicohistological data from a group of 15 patients with tufted folliculitis were reviewed and compared with those of seven patients with folliculitis decalvans, five with acne keloidalis nuchae, four with dissecting cellulitis of the scalp, three with kerion celsi and 20 with follicular lichen planus. It was found that tufted folliculitis could be differentiated from folliculitis decalvans only by finding several hair tufts scattered within patches of scarring alopecia. Histologically, a single tuft consisted of peculiar clustering of adjacent follicular units opening at the bottom of an epidermal depression. Conversely, the presence of keloidal plaques in acne keloidalis nuchae, coalescing nodules discharging purulent material in dissecting cellulitis of the scalp, erythematous plaques covered by pustules replete with fungal elements in kerion celsi, and the absence of follicular pustules in follicular lichen planus distinguished these diseases from tufted folliculitis. On the basis of these findings, it is suggested that tufted folliculitis should be considered as a distinctive clinicohistological variant of folliculitis decalvans. Tufting of hair is caused by clustering of adjacent follicular units due to a fibrosing process and to retention of telogen hairs within the involved follicular units.     

Olmsted syndrome: report of a new case

We report the case of a 20-year-old man, who was born with an intense erythema of the genital area, unresponsive to any treatment employed. When he was 9 months old, he presented with well-defined hyperkeratotic erythematous plaques around the mouth, eyes, nose, and perianal area, with similar plaques on the lateral aspect of the neck and axillae. At the same time the erythema of the genital area became hyperkeratotic. When he was 2 years old, he presented with a disabling palmoplantar keratoderma, initially focal, and later diffuse, also unresponsive to local or systemic treatments employed. The lesions have varied during the course of the disease without ever clearing completely. The axillary and inguinal plaques have shown spontaneous resolution on occasion. Six skin biopsies have been performed with no conclusive histological diagnosis of any of the typical disorders of keratinization. All treatments, topical and systemic, including etretinate and acitretin, have failed to improve the condition. We believe that this patient has Olmsted syndrome, a rare form of palmoplantar keratoderma with periorificial keratotic plaques.     

Albinism and schizophreniform psychosis: a pedigree study

The author presents a pedigree study of albinism associated with schizophreniform psychosis and concludes that the evidence of an association between the two traits is strong; the evidence for genetic linkage is suggestive. The pineal hormone melatonin and the melanocyte-stimulating hormone inhibitory factor may be etiologic determinants of psychosis associated with albinism.     

Diffuse hemorrhagic gastroenteropathy: report of a new entity

An apparently novel entity, diffuse hemorrhagic gastroenteropathy (DHG), in a 70-year-old female who had an unremitting course of chronic gastrointestinal blood loss for 3 years requiring transfusion of more than 200 units of packed red blood cells over this period is reported here. Endoscopy showed diffusely hemorrhagic mucosa in the stomach, duodenum, and small bowel. Full-thickness biopsy of the stomach and small intestine revealed luminal narrowing of capillaries and post-capillary venules within the lamina propria due to swelling and some proliferation of the endothelial cells with margination and emigration by neutrophils as well as partial occlusion of some vessels by fibrin thrombi. DHG may represent a new entity characterized by mucosal hemorrhage due to local mucosal ischemia of the gastrointestinal tract secondary to a small vessel "vasculopathy" apparently restricted to this site.     

Acute intermittent familial ataxia: report of a new family

INTRODUCTION. Acute intermittent familial ataxia is a rare disorder with autosomal dominant inheritance and unknown etiology which usually in childhood or adolescence. CASE 1. A 33-years-old woman who suffered from giddiness, gait ataxia, dysarthria and somnolence episodes. These episodes lasted between 4 and 72 hours. They generally occurred within a framework of emotional or physical stress. The following tests were performed: hemogram and biochemistry, blood and urine toxicology, immunological tests, cerebrospinal-fluid study, electrocardiogram, electroencephalogram, trunk and visual evocated potentials, cerebral computed tomography and cerebral magnetic resonance imaging. None of them gave significative results. CASE 2. A 12-years-old boy, son of the previous woman, who suffered from somnolence, gait ataxia and dysarthria with acute beginning. The same tests than in the above case were performed together with metabolic studies. There were no pathological findings in this case, either. The symptoms disappeared gradually in 6 days. His familial history led to a diagnosis of acute intermittent familial ataxia. A year later he suffered from a similar disorder and he was immediately treated with acetazolamide. The symptoms disappeared in 2 hours. CONCLUSIONS. Acute intermittent familial ataxia is a disorder of difficult identification. It can be easily confused with other periodical ones, because its diagnosis has to be based on the clinical findings and on the familial history. For this purpose, a therapeutic test with acetazolamide can be useful, since in most cases a spectacular clinical improvement has been observed.     

Osteochondromalike parosteal osteosarcoma: a report of six cases of a new entity

OBJECTIVE: Our purpose was to describe a rare juxtacortical bone sarcoma with deceptively benign, osteochondromalike histologic characteristics. We present criteria by which this low-grade malignant neoplasm can be distinguished from other benign and malignant surface lesions of bone with particular emphasis on the imaging features. MATERIALS AND METHODS: Six cases of a low-grade, chondroossifying parosteal sarcoma of bone were reviewed. Patients included four males and two females 11 months to 66 years old. Histologic findings from initial tumors and from recurrent tumors were reviewed. Two musculoskeletal radiologists analyzed the imaging studies, which included plain films, CT scans, MR images, and a bone scan. RESULTS: Histologically, the lesions were characterized by a thin layer of proliferating, periosteally derived spindle cells overlying a thin, low-grade malignant cartilage cap that underwent calcification, neovascularization, and conversion into benign bone and marrow fat. These lesions were unique in that the malignant elements were only at their periphery. All six cases were initially misdiagnosed as benign lesions on pathologic evaluation. In each patient, imaging revealed a "pasted-on" ossified surface lesion with an intact underlying cortex and no medullary involvement. In three cases, recurrent tumors had histologic appearances consistent with conventional parosteal osteosarcoma. Dedifferentiation, metastases, and death occurred in one of these three cases. CONCLUSION: To our knowledge, this surface lesion of bone has not been specifically described. Whether this tumor constitutes a distinct entity or is a specialized variant of parosteal osteosarcoma is unclear. Precise radiologic-pathologic correlation is essential for appropriate diagnosis and management.     

Extratesticular lipoma: report of 2 cases and a new classification

We report 2 cases of intrascrotal extratesticular lipoma and propose a new classification. If the possible anatomic sites of origin and the histology of this neoplasm are considered during dissection the tumor can be excised without unnecessary orchiectomy when the blood supply of the testicle can be preserved.     

Reconstruction of the posterior cruciate ligament: preliminary report of a new procedure

The integrity of the posterior cruciate ligament is necessary for the stability of the knee. The popliteus tendon is a promising, practical, and anatomical donor for reconstructing the posterior cruciate ligament. The procedure can be performed relatively easily using a posterolateral Henderson incision in association with the standard anteromedial parapatellar approach. We have performed the operation in 2 patients, produced good results at 4 and 6 month follow-up examination.     

Branchio-oto-renal (BOR) syndrome: variable expressivity in a five-generation pedigree

A five-generation family with the branchio-oto-renal (BOR) syndrome is reported demonstrating the great variability of this syndrome. Symptoms of the branchio-oto, branchio-oto-ureteral, and BOR syndromes are seen in different members of this family, suggesting that these are not real entities, but variants of the BOR syndrome.     

Colonic anastomosis-a new approach: preliminary report

A case of fetal death from abruptio placentae is reported in which the placenta was the seat of multiple chorangiomata. This association is believed not to have been fortuitous and a possible mechanism is suggested by which chorangioma may contribute to the pathogenesis of placental abruption. The incidence, morphological variation and clinical manifestations of placental chorangiomata are briefly discussed.     

An evaluation of a new lactic acid polymer drug delivery system: a preliminary report

This paper reports the effects of Tripterygium Wilfordii (TW) on adrenal cortex in rats with adjuvant arthritis. Forty rats were divided into 5 groups. Adjuvant arthritis (AA) models were made with complete freund's adjuvant (CFA) in groups I-IV. Each of which was treated with sodium carboxyl methyl cellulose, TW, prednisone and cyclophosphamide respectively. The untreated rats allocated to group V served as normal controls. The swelling of AA markedly subsided in group II, III and IV as compared with group I (P < 0.01), whereas no significant differences were noted among groups II, III and IV (P > 0.05). The obviously increased plasma corticosterone levels and decreased adrenal ascorbic acid levels were observed in group II, whereas decreased plasma corticosterone levels and increased adrenal ascorbic acid levels were noted in group III. There was a striking contrast between groups II and III. The morphological changes of adrenal glands under light microscope revealed hypertrophic adrenal cortices in group II, and atrophic adrenal cortices in group III. The above findings suggest that the effect of promoting production of corticosteroids may be one of the mechanism by which TW can effectively treating autoimmune diseases.     

Monobloc distraction osteogenesis during infancy: report of a case and presentation of a new device

Adrenomedullin(AM) is a potent hypotensive peptide originally isolated from human pheochromocytoma. AM exerts various biological actions such as vasodilation, bronchodilation and natriuresis, by stimulating cAMP production and increasing free Ca2+ levels through the specific receptors. Although an orphan receptor cloned from rat lung, which contained seven transmembrane domains, was proved to be one of the AM receptors, it is now considered by many studies that other receptor subtypes should be present. The precise signal transduction mechanism for the AM receptor is not fully elucidated yet, but it is supposed that AM acts against proliferative changes of vascular and mesangial cells as seen in hypertensive states, at least partly by inhibiting the MAP kinase pathway. Further studies on the AM receptor subtypes and their intracellular signaling mechanisms are needed to clarify the role of AM in various pathophysiological conditions.     

Viscosupplementation: a new concept in the treatment of sacroiliac joint syndrome: a preliminary report of four cases

OBJECTIVE: To evaluate the modulatory effects of interleukin (IL)-1beta and prostaglandin (PG)E2 on the PGE2 receptor subtype EP1 in amnion cell cultures. METHODS: Amnion cell cultures were incubated in increasing concentrations of (IL)-1beta or PGE2. Cultures were also incubated in high concentrations of IL-1beta and PGE2 in combination. Changes in EP1 receptor levels were evaluated by western and northern blot analysis. Culture fluid PGE2 levels were measured by enzyme-linked immunosorbent assay. RESULTS: EP1 receptor protein levels decreased with increasing levels of PGE2 (r = -0.82, P < .05). EP1 receptor protein (r = 0.95, P < .05), EP1 mRNA (r = 0.95, P < .01), and culture fluid PGE2 levels (P < .01) were all increased after IL-1beta administration. EP1 receptor levels also increased approximately fourfold in response to IL-1beta incubation even in the presence of high agonist (PGE2) concentrations (P < .01). CONCLUSION: The results of this study show that IL-1beta might be involved in infection-induced preterm labor by interfering with the normal regulation of EP1 receptor levels and with the promotion of increased PGE2 production in amnion tissue.     

Intraparenchymatous vascular tumors of the testicle: report of a new case of cavernous hemangioma

The occurrence of a vascular tumour at the intraparenchymatous testicular level is a fact little reported in the literature. Searching for such events, 19 cases were found all of which showed benign clinical behaviour. The most commonly seen histological pattern is cavernous haemangioma (11 patients). Mean age at presentation is 19 years old and the most usual pre-operative diagnosis, germinal cell neoplasia. Since there are no specific ultrasound patterns that may allow to differentiate benign from malignant masses, inguinal orchiectomy is the choice treatment in this type of lesions. Furthermore, the case of a 44-year old patient with hypoechogenic solid mass in left testis who consulted for sporadic episodes of long-standing scrotal pain is presented. After radical exeresis of the gonad, the histological analysis showed existence of testicular cavernous haemangioma.     

Intranodal palisaded myofibroblastoma: report of three new cases

Intranodal palisaded myofibroblastoma is a well-defined entity in the group of spindle-cell neoplasms of lymph nodes. The authors report 3 new cases of this unusual tumor. The nature of the proliferating cells is discussed.