Congenital lower limb enlargement in a newborn.

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.

Fragrance contact allergy: a 4-year retrospective study.

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.

Varicella-zoster virus pneumonia in an adult population: has mortality decreased?

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.

Synchronous bilateral breast carcinoma in a patient with cowden syndrome: a case report with morphologic, immunohistochemical and genetic analysis.

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.

Atypical presentation of an omphalomesenteric duct cyst.

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.

Bullous congenital ichthyosiform erythroderma: a sporadic case produced by a new KRT10 gene mutation.

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.

Extragenital bullous lichen sclerosus atrophicus.

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.