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3.
Pediatr Dermatol ; 28(5): 579-80, 2011.
Article in English | MEDLINE | ID: mdl-21916963

ABSTRACT

A full-term newborn presented with swelling of his right leg soon after birth. There was no alteration in Doppler. The grandmother and other relatives were said to have shown a similar history at birth. Milroy's disease was then diagnosed and compressive massage was advised.


Subject(s)
Lower Extremity Deformities, Congenital/diagnosis , Lymphedema/congenital , Lymphedema/diagnosis , Humans , Infant, Newborn , Lower Extremity Deformities, Congenital/therapy , Lymphedema/therapy , Male , Massage
4.
Contact Dermatitis ; 63(2): 77-84, 2010 Aug.
Article in English | MEDLINE | ID: mdl-20573166

ABSTRACT

BACKGROUND: Fragrance chemicals are the second most frequent cause of contact allergy. The mandatory labelling of 26 fragrance chemicals when present in cosmetics has facilitated management of patients allergic to fragrances. OBJECTIVES: The study was aimed to define the characteristics of the population allergic to perfumes detected in our hospital district, to determine the usefulness of markers of fragrance allergy in the baseline GEIDAC series, and to describe the contribution made by the fragrance series to the data obtained with the baseline series. MATERIAL AND METHODS: We performed a 4-year retrospective study of patients tested with the Spanish baseline series and/or fragrance series. There are four fragrance markers in the baseline series: fragrance mix I (FM I), Myroxylon pereirae, fragrance mix II (FM II), and hydroxyisohexyl 3-cyclohexene carboxaldehyde. RESULTS: A total of 1253 patients were patch tested, 117 (9.3%) of whom were positive to a fragrance marker. FM I and M. pereirae detected 92.5% of the cases of fragrance contact allergy. FM II and hydroxyisohexyl 3-cyclohexene carboxaldehyde detected 6 additional cases and provided further information in 8, enabling improved management. A fragrance series was tested in a selected group of 86 patients and positive results were obtained in 45.3%. Geraniol was the allergen most frequently found in the group of patients tested with the fragrance series. CONCLUSIONS: Classic markers detect the majority of cases of fragrance contact allergy. We recommend incorporating FM II in the Spanish baseline series, as in the European baseline series, and using a specific fragrance series to study patients allergic to a fragrance marker.


Subject(s)
Dermatitis, Allergic Contact/etiology , Perfume/adverse effects , Acyclic Monoterpenes , Adult , Aldehydes/adverse effects , Cyclohexenes/adverse effects , Humans , Male , Myroxylon/adverse effects , Patch Tests , Retrospective Studies , Terpenes/adverse effects
6.
Scand J Infect Dis ; 42(3): 215-21, 2010 Mar.
Article in English | MEDLINE | ID: mdl-20055724

ABSTRACT

Varicella-zoster virus (VZV) pneumonia is one of the most serious complications of this infection in adults. The objective of this study was to analyze the epidemiological and clinical characteristics in a large sample of patients with VZV pneumonia. This was a 10-y retrospective, descriptive, observational study. We studied 46 patients with VZV pneumonia, 21 men and 25 women, with a mean age 36 +/-11 y. A contact with an index case was observed in 57%, 76 were active smokers, 6.5% consumed drugs and 2 women were pregnant. The symptoms were: fever (83%), cough (83%), dyspnoea (63%), pleuritic pain (70%), and haemoptysis (6%) and started 3-5 days after the onset of blisters, except in 11% in whom respiratory symptoms appeared first. Arterial blood gases showed a mean PO(2)/FiO(2) of 308 +/-101 and 30 patients had a PO(2) of <55 mmHg--11 of these (4%) were admitted to the ICU, 8 required mechanical ventilation. Comparison of patients in the ICU with those on the general ward showed differences in the duration of fever (6.1 +/- 4.2 vs 3.2 +/- 1.1 days, p <0.001), mean stay (16.8+/-9.3 vs 7.2+/-2.4 days, p <0.001) and complications such as acute renal failure (p = 0.01) and acute respiratory failure (p < 0.001). Despite the severity of disease, no patient died. Once diagnosed, 98% were treated with acyclovir, combined with steroids in 6 and with antibiotics in 3 complicated with bacterial pneumonia. The prevalence for the period was 0.33 cases/100,000 inhabitants/y. In conclusion, VZV pneumonia has a severe course and accounts for a high percentage of admissions to the intensive care unit. The absence of mortality may be related to early treatment with acyclovir. Smoking was a risk factor for VZV pneumonia.


Subject(s)
Herpes Zoster/complications , Herpesvirus 3, Human/isolation & purification , Pneumonia, Viral/epidemiology , Pneumonia, Viral/mortality , Acyclovir/therapeutic use , Adult , Aged , Aged, 80 and over , Anti-Bacterial Agents/therapeutic use , Anti-Inflammatory Agents/therapeutic use , Antiviral Agents/therapeutic use , Female , Humans , Male , Middle Aged , Pneumonia, Viral/pathology , Pneumonia, Viral/virology , Pregnancy , Prevalence , Retrospective Studies , Steroids/therapeutic use , Treatment Outcome , Young Adult
8.
Breast J ; 16(1): 77-81, 2010.
Article in English | MEDLINE | ID: mdl-19968660

ABSTRACT

Synchronous bilateral breast carcinoma (SBBC) and early onset are important characteristics of hereditary cases. The lifetime risk for breast carcinoma in Cowden syndrome (CS) is estimated to be 25-50%. We reported a 44-year-old woman presenting SBBC and characteristic mucocutaneous lesions of CS, confirmed by PTEN gene mutation analysis. Bilateral modified mastectomy and axillary dissection were performed. Histopathologic examination revealed a moderate-differentiated invasive ductal carcinoma with mixed features of luminal A immunophenotype (Estrogen and/or Progesterone Receptors >50% and/or Ki67 < 30% of positive cells). The skin lesions showed the characteristic findings of tricholemmoma. Lack of PTEN expression was observed in all specimens. Sequencing analysis confirmed the presence of PTEN splice-acceptor site mutation in intron 8 (c.1027-2A>G), a germline mutation which had not been previously reported in CS. The patient received adjuvant chemotherapy and tamoxifen for 5 years. After 5 years of follow-up, she persists recurrence-free. SBBC with early onset suggests a hereditary predisposition. Thus, analysis of PTEN expression abnormality, easily assessed by immunohistochemistry, may be of clinical value to screen those patients with CS.


Subject(s)
Breast Neoplasms/pathology , Carcinoma, Ductal, Breast/pathology , Hamartoma Syndrome, Multiple/diagnosis , Lymph Node Excision/methods , Mastectomy/methods , Neoplasms, Multiple Primary/pathology , Adult , Axilla , Biopsy, Needle , Breast Neoplasms/drug therapy , Breast Neoplasms/surgery , Breast Self-Examination , Carcinoma, Ductal, Breast/drug therapy , Carcinoma, Ductal, Breast/genetics , Carcinoma, Ductal, Breast/surgery , Chemotherapy, Adjuvant , Female , Follow-Up Studies , Genetic Testing , Humans , Immunohistochemistry , Lymph Nodes/pathology , Lymph Nodes/surgery , Magnetic Resonance Imaging , Mammography/methods , Neoplasm Staging , Neoplasms, Multiple Primary/drug therapy , Neoplasms, Multiple Primary/surgery , Treatment Outcome
9.
Dermatol Online J ; 15(6): 13, 2009 Jun 15.
Article in English | MEDLINE | ID: mdl-19723487

ABSTRACT

We describe a clinical case of an omphalomesenteric duct (OMD) cyst that presented as an umbilical nodule with a late and atypical clinical presentation. This report illustrates the possibility of OMD cyst resembling a keloid or dermatofibroma.


Subject(s)
Vitelline Duct/pathology , Child, Preschool , Female , Humans
10.
Pediatr Dermatol ; 26(4): 489-91, 2009.
Article in English | MEDLINE | ID: mdl-19689541

ABSTRACT

Bullous congenital ichthyosiform erythroderma is an unusual type of inherited ichthyosis by mutations in the genes that encode K1 and K10. We report the case of a girl with typical clinical and histopathologic findings of bullous congenital ichthyosiform erythroderma, who was found to have a new mutation in KRT10 gene, Glu445Lys at position 445, affecting the 2B region of the KRT10 protein, the end of the rod domain, where many other keratin mutations associated with hereditary skin disease have been reported. This new mutation contributes to add to the catalog of bullous congenital ichthyosiform erythroderma mutations known.


Subject(s)
Hyperkeratosis, Epidermolytic/genetics , Keratin-10/genetics , Point Mutation , Adenine , Base Sequence , DNA , Female , Guanine , Heterozygote , Humans , Hyperkeratosis, Epidermolytic/complications , Hyperkeratosis, Epidermolytic/pathology , Infant, Newborn , Protein Structure, Tertiary , Staphylococcal Scalded Skin Syndrome/complications
12.
Dermatol Online J ; 15(1): 6, 2009 Jan 15.
Article in English | MEDLINE | ID: mdl-19281711

ABSTRACT

Lichen sclerosus et atrophicus (LSA) is a rare, chronic, mucocutaneous disease of unknown etiology. Onset can occur in subjects of any age, but the condition is more prevalent in adult females around the time of menopause. In both sexes, the most common site of the lesions is the anogenital area. Bullous lichen sclerosus et atrophicus is an unusual form of the disease and the exact prevalence is not known. We describe a case of nongenital bullous LSA in a man.


Subject(s)
Lichen Sclerosus et Atrophicus , Aged, 80 and over , Back , Humans , Lichen Sclerosus et Atrophicus/pathology , Male
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