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Background: Metabolic syndrome substantially increases risk of cardiovascular events. It is therefore imperative to develop or optimize ways to prevent or attenuate this condition. Exercise training has been long recognized as a corner-stone therapy for reducing individual cardiovascular risk factors constituting the metabolic syndrome. However, the optimal exercise dose and its feasibility in a real world setting has yet to be established. The primary objective of this randomized trial is to investigate the effects of different volumes of aerobic interval training (AIT) compared to the current exercise guideline of moderate-intensity continuous training (MICT) on the composite number of cardiovascular disease risk factors constituting the metabolic syndrome after a 16 week, 1-year, and 3-year follow-up., Methods: This is a randomized international multi-center trial including men and women aged ≥30 years diagnosed with the metabolic syndrome according to the International Diabetes Federation criteria. Recruitment began in August 2012 and concluded in December 2016. This trial consists of supervised and unsupervised phases to evaluate the efficacy and feasibility of different exercise doses on the metabolic syndrome in a real world setting. This study aims to include and randomize 465 participants to 3 years of one of the following training groups: i) 3 times/week of 4 × 4 min AIT at 85-95% peak heart rate (HRpeak); ii) 3 times/week of 1 × 4 min AIT at 85-95% HRpeak; or iii) 5-7 times/week of ≥30 min MICT at 60-70% HRpeak. Clinical examinations, physical tests and questionnaires are administered to all participants during all testing time points (baseline, 16 weeks and after 1-, and 3-years)., Discussion: This multi-center international trial indeed aims to ease the burden in healthcare/economic cost arising from treating end-stage CVD related conditions such as stroke and myocardial infarction, that could eventually emerge from the metabolic syndrome condition., Trial Registration: Clinical registration number: NCT01676870 , ClinicalTrials.gov (August 31, 2012).

Smooth muscle hamartoma is a cutaneous abnormality characterized by a disorganized proliferation of normal muscle fibers of arrector pili. Usually a single congenital hypertrichotic plaque involves the trunk and the extremities. Multiple lesions have rarely been reported in the literature. We describe three members of the same family with multiple skin-colored patches on the back and legs, histologically confirmed as smooth muscle hamartomas. To our knowledge this is the first report of multiple smooth muscle hamartomas in different members of the same family and quite interestingly involving the same skin site.

Rubinstein-Taybi syndrome is a multisystem developmental disorder due to an autosomal dominant mutation. It is clinically defined by the presence of peculiar facies, mental retardation, and broad thumbs and first toes. Important dermatologic findings include hirsutism, keloids, hemangiomas, and dermatoglyphic abnormalities. We report a 12-year-old girl with the typical phenotype of Rubinstein-Taybi syndrome, associated with numerous pilomatricomas. These are benign epithelial neoplasms with hair cell differentiation that may have a familial transmission. Pilomatricomas have not been reported in patients with Rubinstein-Taybi syndrome, although their association with myotonic dystrophy, another autosomal dominant disorder, is well known. Possibilities to explain the association include contiguous gene syndrome, the action of a pleiotropic gene, predisposition to malformations, and mere coincidence.

A 28-month-old boy had firm, red nodules for 4 months that were mostly localized to the face. The eruption was preceded by conjunctivitis, eyelid edema, and swelling of the root of the nose. He also had dyspnea, anisocoria with areflexia, swelling of the parotid glands, and hepatosplenomegaly. A bone marrow aspirate showed 25% eosinophils. A skin biopsy specimen revealed a lymphohistiocytic infiltrate that involved the entire dermis. Most of the cells expressed antimacrophage markers; S-100 was negative. Electron microscopy showed poorly differentiated histiocytes without any specific marker. Steroid therapy induced complete clearing. Two years later, after several cutaneous recurrences, the patient is free of disease. We believe that this case represents a nodular, benign non-Langerhans cell histiocytosis with cutaneous lesions that differ from previously described histiocytopathies.

Background: There is no agreement as to whether papular acrodermatitis of childhood caused by hepatitis B virus can be differentiated from other papulovesicular acrolocated syndromes., Objective: We attempted to establish whether such differentiation is possible comparing histories, signs, and symptoms of all patients who have been previously diagnosed as having papular acrodermatitis of childhood or papulovesicular acrolocated syndromes., Methods: Files of 308 patients hospitalized in the past three decades were studied. Photographs were examined by a panel of experts to determine whether it was possible to distinguish between papular acrodermatitis of childhood and papulovesicular acrolocated syndromes solely on the basis of cutaneous signs., Results: The retrospective analysis confirmed a significant overlapping of the two types of the disease. The blind survey of photographs of the patients revealed that a distinction between the forms was not clinically possible., Conclusion: Acrodermatitis is a self-limiting cutaneous response to different viruses; clinical differences are probably due to individual characteristics of each patient rather than the causative virus.

A 25-year-old woman who recently gave birth to a baby affected by classic lesions of incontinentia pigmenti (IP), had hypochromic, atrophic, and reticulated streaks on both lower limbs. Her personal history was unremarkable for IP, and physical examination revealed no other cutaneous signs of the disease. Immunohistochemical and electron microscopic studies were performed on biopsies obtained from both normal and hypochromic skin of the leg. Hypochromic skin showed epidermal atrophy and lack of adnexae, without significant melanocyte abnormality. As demonstrated by this patient, hypochromic reticulated streaks can represent the only cutaneous marker of IP in adulthood. Careful search for such skin lesions in the mother of a child with IP is essential in order to ascertain whether there is a risk of its occurrence in future offspring.

Dermatitis herpetiformis was diagnosed in seventy-six children by its clinical features and by detection of granular IgA deposits in the papillary dermis of perilesional skin. Enteric alterations demonstrated by measurement of D-xylose absorption and by small intestinal biopsies were detected in over 90% of all patients. A complete follow-up was obtained for all children who were followed for 3 to 10 years. Treatment with a gluten-free diet alone led to a reversal of the intestinal abnormality in 100% of our children and to the disappearance of cutaneous lesions in 82% of reported cases. This suggests that a complete remission of symptoms can be obtained with a gluten-free diet alone. Dapsone alone is effective therapy for the rash but does not affect the intestinal alterations. Furthermore, the lack of side effects to dietetic therapy for a long period of time makes the diet the treatment of choice in this disease.

Cutis marmorata telangiectatica congenita (CMTC) is characterized by a persistent vascular mottling of the skin, usually on the limbs. Four cases (2 males and 2 females) followed up for varying lengths of time are reported. In the first patient, whose vascular lesions were mild, careful re-examination after 10 years revealed some scars. In the second patient the lesions were located on the right side of the body, notably on the leg; 6 years later atrophic scars and a brownish plaque were visible on that leg. In the third patient the lesions occupied almost the entire body, although one side was more affected than the other and hypotrophic; the child's face was asymmetrical because of hypoplasia of the jaw and curvature of the nose; after 1 year the patient's general condition was satisfactory and the skin lesions were less evident but still present. In the fourth patient hypoplasia of a lumbar vertebra was discovered; the skin lesions were similar to those observed in the third patient. Examination of the deep vessels, performed whenever possible, did not show any abnormality, but the possibility of future vascular defects, such as varicosities, must be considered. While some authors emphasize the functional character of the disease, in our opinion the high frequency of multiple associated congenital abnormalities makes CMTC not only a vascular disorder but also a syndrome including other neuroectodermal and mesodermal defects. Therefore, any patient presenting with the cutaneous changes typical of CMTC should be examined with this in mind.

An unknown dermatosis was observed in an infant girl. During the newborn period, she had a generalized, patchy, erythematous eruption of about 60 round erythematous patches on the trunk, thighs, head, labial mucosa, and palate. After a few weeks, the lesions became whitish, atrophic, and depressed, and they were surrounded by an erythematous and slightly infiltrated border, which was occasionally lobulated. Histologically, the lesions demonstrated a thin epidermis overlying an edematous dermis. Around the border of the lesions the collagen bundles were infiltrated with mononuclear cells. Granular deposits of IgG, C'3, and C'4 were found at the dermoepidermal junction and around the superficial capillaries. The lesions healed completely and spontaneously within a year.

Fetal dystrophic recessive epidermolysis bullosa of the Hallopeau-Siemens type (EBdr-HS) was prenatally diagnosed in a couple at risk whose previous child was severely affected of the same disorder. Prenatal diagnosis was made at 18 weeks of gestation by ultrastructural examination of fetal skin samples obtained under continuous ultrasonic guidance. Four of the five specimens obtained showed dermal epidermal separation under the lamina densa with athophic and rare anchoring fibrils and superficial collagenolysis. The parents decided to terminate the pregnancy and ultrastructural skin examination of the aborted fetus, performed in multiple sites including the scalp, trunk, abdomen and limbs, confirmed the diagnosis showing no regional variation in the expression of the ultrastructural marker.

We studied complement (C') involvement in paediatric coeliac disease (CD) and dermatitis herpetiformis (DH) in relation to lesions and function of enteric mucosa and to diet. For this purpose, 50 children affected by CD and 42 affected by DH were subdivided in 3 groups: in the first (I) were included subjects in free diet, in the second (II) children during gluten-free diet (GFD) and in the third (III) subjects after gluten reintroduction in diet. Only in CD we found significant modifications of some C' parameters. In fact C3 and C4 levels increase in II group in GFD (respectively p less than 0.02 and p less than 0.03) and result inversely correlated to an arbitrary score for the evaluation of the enteric histological lesions (p less than 0.02 and p less than 0.01). C3d/C3 ratio levels, as catabolic index of C3, result always greater than normal in both diseases, but significantly decrease only in II group of CD children (p less than 0.02), where they result also positively correlated to the histological score (p less than 0.05). Circulating immune complex-like material is higher in DH, but incidence of pathological values decrease in II group only in CD (p less than 0.04). These data suggest probable significant differences in the pathogenetic mechanisms of CD and DH involving C'.

Reticulohistiocytosis, a rare disorder occurring almost exclusively in adults, was seen in "pure" diffuse cutaneous form in an 8-year-old boy who had tuberous sclerosis since birth. The clinical features consisted of many papulonodular lesions, located mainly on the trunk and to a lesser extent on the head and limbs. Histologic findings were distinctive. Ultrastructural examination revealed the presence of pleomorphic cytoplasmic inclusions in almost all of the giant histiocytic cells of the infiltrate.

An 11-year-old girl affected by keratosis punctata palmaris et plantaris, histologically showing focal acantholytic dyskeratosis, is described. This case demonstrates that keratosis punctata palmaris et plantaris may represent a new clinical expression of persistent multiple focal acantholytic dyskeratosis.

We describe a unique and puzzling case of a 7-month-old baby with a non-X hypertriglyceridemic histiocytoxanthomatosis. The disease was characterized by a massive nodular eruption that was clinically, histologically, and ultrastructurally consistent with juvenile xanthogranuloma, but it had a rapid, fatal evolution.

Benign cephalic histiocytosis is a self-healing non-X, nonlipid cutaneous histiocytosis of children, characterized by a papular eruption on the head. Mucous membranes and viscera are always spared. In the 13 cases reported herein, the children were otherwise in good general health. The disease appeared during the first three years of life, and spontaneous regression was complete by the age of nine years in the four cases healed to date. The histiocytic infiltrate was localized in the upper and middle dermis and contained no lipids at any stage of evolution. All the histiocytes contained coated vesicles, and 5% to 30% also contained comma-shaped bodies in their cytoplasm.

Typical cutaneous findings in tuberous sclerosis are present in over 90% of cases and represent one of the earliest markers of the syndrome. Our study, based on 6 pediatric cases, underlines how the skin manifestations vary with the patient's age. Hypopigmented maculae were usually present at birth and remained often the only clinical sign during the first few years of age. Angiofibromas on the face appeared later and were followed by orange-peel patches and then by periungual fibromas. The high spontaneous new mutation rate of tuberous sclerosis seems to be confirmed by our study in which clinical evaluation of first-degree relatives of all patients was negative.