Leide Parolin Marinoni

Cutis verticis gyrata in a child with Turner syndrome.

To the Editors: Cutis verticis gyrata (CVG) is a rare disorder characterized by elevations and depressions of the skin that form cerebriform folds. Data on the association of CVG with Turner syndrome (TS) are scarce (1,2). This report emphasizes the association of CVG with chromosomal abnormalities and proposes inclusion of these syndromes as secondary causes of CVG. We saw a Caucasian female infant 18 days old, the product of a full-term, uncomplicated pregnancy who presented with abnormal scalp folds at birth (Fig. 1). Her parents were nonconsanguenous. The infant’s weight and height were in the 5th percentile. She had surplus skin over the nape of the neck, edema of the feet, epicanthi, ogival palate, and furrows resembling gyri on the anterior biparietal portion of the head measuring 3 cm × 2 cm, with absence of hair. The neurologic and cardiac evaluations were normal. Laboratory tests found negative chromatin in buccal smears, with a 45-XO karyotype. A skin biopsy specimen from a lesion revealed a normal epidermis and thick fibrous bands of collagen in the superficial and reticular dermis. At 5 months of age, the edema of the feet and folds on the scalp persisted and a winged neck was also noted. At 10 months her height was in the 3rd percentile and weight in the 10th percentile, with normal growth velocity and normal mental status. In 1953, Polan and Butterworth (3) classified CVG as primary (or idiopathic) and secondary. As a primary illness, it is usually associated with neurologic abnormalities. When secondary, it can be due to inflammatory changes; tumors, nevi, neurofibroma and fibroma; trauma; and miscellaneous disorders such as acromegaly, myxedema, cretinism, leukemia, syphilis, acanthosis nigricans, and tuberous sclerosis. The presence of CVG without other manifestations is termed primary essential CVG (4). TS manifests clinically at birth with edema over the dorsum of the hands and feet and accentuation of the nuchal folds. Marini et al. (1) reported a case of CVG associated with TS and suggested that the congenital lymphedema presented in this syndrome might be the cause of the CVG. Lymphedema in TS is thought to originate from a congenital abnormality of the lymphatic vessels, which can be caused by hypoplasia or by obstruction of their drainage (5). Embryologically the lymphatic vessels of the scalp drain to the jugular lateral sacs and these normally communicate with the final portion of the right lymphatic duct and the thoracic ducts. In the absence of a connection between the venous and lymphatic systems, as occurs in some chromosomal abnormalities, there is lymph accumulation in the jugular sacs and in the tissues, causing cystic hygroma and hydrops. If there is intrauterine correction or if an alternative route of lymphatic drainage develops, there will be reabsorption of the edema and regression of the cystic hygroma. In TS and other aneuploid syndromes this results in congenital winged neck and puffiness of the dorsum of the hands and feet (6–8). Approximately 80% of children with TS are born with lymphedema, mainly of the dorsum of the hands and feet. Cystic hygroma occurs in 50% of patients. Usually the lymphedema resolves by recanalization of the lymphatic vessels. The resolution of both edema and cystic hygroma could explain the dermatoglyphic abnormalities, the pterygium coli, and the low hairline that occurs in TS (5,9–11). It is postulated that CVG might also result from resolved intrauterine scalp lymphedema (1,2). The echographic detection of lymphedema in a fetus with CVG and TS has been reported (12). Lymphedema and cystic hygroma may also occur in Down and Edwards syndromes (13). Newborns with these chromosomal abnormalities, characterized by “pterygium coli” at birth, were noted by ultrasound between the 14th and 16th weeks of gestation (13) to have cystic hygroma and generalized edema (including the head). At present, in Polan’s classification, chromosomal alterations are not listed as a cause of CVG. Some authors have shown the association of CVG with TS (1,2) and we Figure 1. Furrows on the anterior biparietal portion of the head.

Paracoccidioidomycosis in children with different skeletal involvement

The rarity of paracoccidioidomycosis in childhood prompted us to report two cases with different clinical and radiological skeletal involvement. The number of osteolytic lesions, the presence of periosteal reaction and the finding of Paracoccidioides brasiliensis in biopsy specimens, were distinctive features in both cases.

Alterações dermatológicas em crianças com Aids e sua relação com categorias clínico-imunológicas e carga viral

BACKGROUND: Ever since the beginning of the Acquired Immunodeficiency Syndrome (Aids) epidemic, a number of dermatoses have been frequently described in patients with this disease. In the literature, case reports and studies in series of adult patients with atypical lesions are frequent found. By contrast, there are few reports on cutaneous alterations in pediatric patients with Aids. OBJECTIVE: The purpose of the following prospective survey is to evaluate the presence of dermatoses in 40 pediatric patients with Aids. METHOD: Forty patients diagnosed with Aids and less than 13 years of age were seen for six months. The following features were evaluated: number of dermatoses, clinical characteristics, distribution in accordance with the clinical-immunological categories in relation to CD4 T-lymphocyte and viral load values. RESULTS: The prevalence of dermatoses in the first evaluation was 82.4%. In a longitudinal follow-up, 92.5% of the patients developed some kind of skin problem. Children belonging to the worst clinical-immunological category, with a viral load higher than 100,000 copies/ml showed a higher number of dermatoses when compared to the mildest categories. The number of dermatologic alterations per patient was 6.8 in clinical category C and 3.6 in A. In the immunological severe category, it was 7.0, while in the mild one, it was 3.7. For viral load > 100,000, the number was 7.3, and for < 100,000, it was 4,2 (all with statistical significance). CONCLUSION: Dermatological alterations were frequent and directly related to advanced stages of Aids in pediatric patients. Higher frequencies of skin alterations in pediatric patients with Aids indicate that it is necessary to perform careful and frequent dermatological examinations of these patients.

Measles in children with HIV infection: report of five cases.

Patients with AIDS have a high incidence of skin problems due to the immunosuppression and malnourishment that are inherent to the progression of this disease. Clinical manifestation of these skin lesions and their severity are different in AIDS patients. We made a prospective study of five cases of measles in children with HIV infection during a community outbreak, and there were typical as well as atypical forms of the disease, including one case with negative serology. There were pulmonary complications, but none of the patients died. The anti-retroviral treatment may have contributed to the decrease in measles morbidity in these pediatric AIDS patients.

Cutaneous manifestations in patients with Wiskott–Aldrich syndrome submitted to haematopoietic stem cell transplantation

Introduction Wiskott–Aldrich syndrome (WAS) is an X-linked primary immunodeficiency caused by a mutation of the WAS protein gene. This protein actively participates in important cellular processes, and its presence is related to diverse clinical manifestations, including cutaneous alterations. The classical triad of WAS consists of recurrent infections, thrombocytopaenia with small platelets and atopic dermatitis (AD)-like lesions. Objective To evaluate the frequencies of cutaneous manifestations in patients with WAS prior to haematopoietic stem cell transplantation (HSCT). Results Twenty-four boys diagnosed with WAS and treated with HSCT between 1992 and 2007 were included. The characteristic triad of WAS occurred in 46% of patients. Before HSCT, the most frequent cutaneous manifestations included eczema similar to AD (71%), followed by petechiae and/or ecchymosis (58%) and cutaneous infections (17%). Conclusions Cutaneous manifestations in patients with WAS are frequent, especially those similar to the eczema found in AD.

Infectious and inflammatory skin diseases in children with HIV infection and their relation with the immune status--evaluation of 127 patients.

Abstract:  Human immunodeficiency virus infection causes changes in the immune system and disease evolution can be partially measured by levels of T CD4+ lymphocytes. Knowledge of the chronology of skin disease in relationship to the immune status of the patient may help understand the pathogenesis of AIDS. One hundred twenty‐seven children were prospectively evaluated for skin diseases and their relationship to immune status. Immunodeficiency in human immunodeficiency virus‐infected children was correlated with infectious dermatoses whereas normal CD4+ T lymphocyte levels was correlated with diseases mediated by hypersensitivity mechanisms.

Paraqueratose granular: relato de seis casos em crianças

Granular parakeratosis is an alteration of keratinization that was first described in adults. It is characterized by hiperkeratotic plaques and papules in intertriginous areas. The authors describe six cases of granular parakeratosis in children. One patient had lesions on the buttocks; two children presented papules in both axillae and cervical region (presentations never described before in the literature). The remaining three patients presented with lesions in the inguinal folds. Review of the literature and discussion on the pathogenesis of this rare dermatosis are presented.

Nail changes in psoriatic children

Indian Journal of Dermatology, Venereology, and Leprology | May-June 2016 | Vol 82 | Issue 3 314 and mean facial sebum excretion have been detected.[5] Therefore, sleep may affect sebum levels via its interactions with these hormones. We propose that our findings regarding the positive relationship between good sleep quality and higher sebum levels may be related to these physiologic characteristics of sleep and sebum.

Target-shaped edematous purple lesions: is it child abuse?

A 5-month-old girl was admitted to the paediatric emergency with a 2 days history of bilateral infiltrated tender purpuric lesions on cheeks, arms and legs, with associated edema. Her mother did not know of any associated symptoms. The possibility of child abuse was considered, all laboratory tests were normal (urinalysis, blood count, renal and coagulation studies) and the Child Abuse Protection Agency was called. On the fifth day of …

Assemble the puzzle: bizarre-looking lesions

Case 1: A 5-year-old girl showed a skin lesion that appeared 16 days earlier. The lesion was irregularly shaped with hyperpigmentation on the back of the hand covered by blisters (figure 1). Her parents denied any contact with plants or citrus fruit. Case 2: A 3-year-old girl was brought for consultation because of lesions that had begun 6 days before. There were erythema, hyperpigmentation and ulcerated areas on the trunk …