Regression in cutaneous melanoma: a comprehensive review from diagnosis to prognosis.

Histological regression in primary cutaneous melanoma occurs in 10-35% of cases. Although a large body of literature exists to suggest that histological regression serves very little purpose in predicting biologic behaviour with melanoma, recognizing the presence of regression at clinical and histological ground may still retain some value in grading melanoma aggressiveness. In the current review, a comprehensive overview of the main aspects of regression will be provided.

Growth hormone receptor polymorphisms and growth hormone response to stimulation test: a pilot study.

Background: No gold standard pharmacological stimulation test exists for the diagnosis of growth hormone deficiency (GHD). In addition, the genetic factors that influence growth hormone (GH) responses remain unclear. This study aimed to determine whether polymorphisms in exon 6 of the GH receptor gene influence responses to the L-arginine GH stimulation test.

A morphological and immunophenotypic map of the immune response in Merkel cell carcinoma.

The susceptibility of Merkel cell carcinoma to the host immune response has prompted a search for effective immunotherapy. CD8-positive T lymphocytes are considered key effectors of this response, but the cellular infiltrates also harbor tumor-protective agents. By developing a comprehensive morphological and immunophenotypic map of tumor-infiltrating lymphocytes (TILS) in Merkel cell carcinoma, we aimed to establish a useful template for future studies.

Cold-Associated Perniosis of the Thighs ("Equestrian-Type" Chilblain): A Reappraisal Based on a Clinicopathologic and Immunohistochemical Study of 6 Cases.

Cold-associated perniosis of the thighs ("equestrian cold panniculitis") is an unusual and still enigmatic entity. The authors retrieved 6 cases for a re-evaluation of their clinicopathologic features and for an immunohistochemical assessment with antibodies anti-CD3, anti-CD20, and anti-CD123. All patients were women, aged 17-45 years.

Intralymphatic Spread Is a Common Finding in Cutaneous CD30+ Lymphoproliferative Disorders.

An intralymphatic variant of the cutaneous CD30 lymphoproliferative disorders (cutaneous anaplastic large cell lymphoma [ALCL] and lymphomatoid papulosis [LyP]) has been described recently. We retrieved 60 cases of ALCL of the skin (primary cutaneous: 37; cases with concomitant involvement of 1 regional lymph node: 4; skin involvement from systemic disease: 4; cases with staging results unknown: 15) and 16 cases of LyP, to evaluate the presence of lymphatic vessel involvement by neoplastic cells. A D2-40 immunohistochemical staining was used to highlight lymphatic vessels.

Insights into genotype-phenotype correlations from CREBBP point mutation screening in a cohort of 46 Rubinstein-Taybi syndrome patients.

The genetic basis of Rubinstein-Taybi syndrome (RSTS), a rare, sporadic, clinically heterogeneous disorder characterized by cognitive impairment and a wide spectrum of multiple congenital anomalies, is primarily due to private mutations in CREBBP (approximately 55% of cases) or EP300 (approximately 8% of cases). Herein, we report the clinical and the genetic data taken from a cohort of 46 RSTS patients, all carriers of CREBBP point mutations. Molecular analysis revealed 45 different gene alterations including 31 inactivating (21 frameshift and 10 nonsense), 10 missense and 4 splicing mutations.

Interleukin-6, soluble interleukin-6 receptor/interleukin-6 complex and insulin resistance in obese children and adolescents.

Background/aim: To study the characteristics of interleukin 6 (IL6), soluble form of interleukin 6 receptor (sILR)/IL6 complex in obese children and adolescents and its relationship with insulin resistance (IR).

Subjects And Methods: 66 obese children and adolescents [34 boys, mean age 10.3 ± 2.

Calcifying Pseudoneoplasm of the Neuraxis. Two Case Reports and Review of CT and MR Findings.

Calcifying pseudoneoplasm is rarely encountered along the neuraxis, and only few cases have been reported to involve the spine. Its exact pathogenesis is unknown, and has been regarded as an unusual reactive process which must be differentiated from infection or malignancy. This rare entity carries a good prognosis after surgical resection.

Endothelial progenitor cells as factors in neovascularization and endothelial repair.

Endothelial progenitor cells (EPCs) are a heterogeneous population of cells that are provided by the bone marrow and other adult tissue in both animals and humans. They express both hematopoietic and endothelial surface markers, which challenge the classic dogma that the presumed differentiation of cells into angioblasts and subsequent endothelial and vascular differentiation occurred exclusively in embryonic development. This breakthrough stimulated research to understand the mechanism(s) underlying their physiologic function to allow development of new therapeutic options.

A case of Stevens-Johnson syndrome possibly induced by amifostine during radiotherapy.

Skin reactions to amifostine are considered to be rare. Here we describe the case of a patient who developed a severe skin eruption (Stevens-Johnson syndrome) during radiotherapy probably due to amifostine. As in most of the patients described so far, the worst lesions were located in the skin areas previously treated with radiotherapy.

A case of autism with an interstitial 1q deletion (1q23.3-24.2) and a de novo translocation of chromosomes 1q and 5q.

Chromosomal abnormalities may cause autism by disrupting a gene or by providing a permissive genetic environment for mutations elsewhere in the genome to become expressed as autism. We report here on a patient with an apparently balanced de novo translocation of chromosomes 1q and 5q. He presented with minor dysmorphic features and renal malformations, mental retardation, and autism.

Al-Awadi/Raas-Rothschild syndrome: two new cases and review.

Al-Awadi/Raas-Rothschild syndrome, an autosomal recessive disorder, is characterized by severe malformations of the upper and lower limbs, and a hypoplastic pelvis. We describe two new cases with the typical manifestations, report some new findings, review the relevant literature, and present minimal criteria for the diagnosis. A single homozygous WNT7A mutation was identified by Woods et al.

Prenatal ultrasound diagnosis of cloacal exstrophy associated with myelocystocele complex by the 'elephant trunk-like' image and review of the literature.

A case of cloacal exstrophy (CE) was detected by ultrasound as early as 22 weeks of gestation in association with myelocystocele complex, an unusual form of occult spinal dysraphism often associated with such a disease. The ultrasonographic diagnosis was made through the detection of a wavy cord-like segment of soft tissue protruding from the anterior abdominal wall, just below the umbilical cord insertion, strongly resembling the trunk of an elephant. Our article enforces the suggestion that the ultrasound elephant trunk-like image should be added to the existing major criteria for making prenatal diagnosis of CE.

Prenatal ultrasound diagnosis of a case of Pfeiffer syndrome without cloverleaf skull and review of the literature.

Pfeiffer syndrome is characterized by bilateral coronal craniosynostosis, midface hypoplasia, beaked nasal tip, broad and medially deviated thumbs and great toes. Originally, it was described in eight persons from three generations in a pedigree consistent with an autosomal dominant transmission. Since then, several reports have documented its high clinical and genetic heterogeneity.

A family with X-linked recessive fusion of metacarpals IV and V.

We describe a family with a distinctive malformation of the hand consisting of the fusion of the 4th and the 5th metacarpal bones. Usually this anomaly is clinically recognizable by an ulnar deviation of the 5th finger; moreover, the 5th metacarpal is usually hypoplastic and the 5th ray is consequently short. There is, however, great variability in expression, so the degree of fusion may range from minimal to complete and also the external aspect of the hand may vary.