Biallelic germline mutations in MAD1L1 induce a syndrome of aneuploidy with high tumor susceptibility.

Germline mutations leading to aneuploidy are rare, and their tumor-promoting properties are mostly unknown at the molecular level. We report here novel germline biallelic mutations in , encoding the spindle assembly checkpoint (SAC) protein MAD1, in a 36-year-old female with a dozen of neoplasias. Functional studies demonstrated lack of full-length protein and deficient SAC response, resulting in ~30 to 40% of aneuploid blood cells.

Treatment of Bowen's disease with photodynamic therapy. Observational study in 171 patients with 5-aminolaevulinic acid (BF-200 ALA) and methyl aminolaevulinate (MAL).

An observational study was carried out in the photodynamic therapy (PDT) section of Fuenlabrada's hospital (Madrid, Spain). Our goal was to investigate the efficacy and safety of PDT in Bowen's disease (BD). Between June 2011-June 2017 171 patients (191 lesions) with diagnosis of BD were enrolled in the study (95 women and 76 men; average age of 74.

Treatment of superficial basal cell carcinoma with photodynamic therapy. Observational study in 22 patients with 5-aminolaevulinic acid and methyl aminolaevulinate.

Background: There is limited literature on efficacy in 5-aminolaevulinic acid (BF-200 ALA) and methyl-5-aminolaevulinate (MAL) for superficial basal cell carcinoma (sBCC).

Aims: To investigate the efficacy and safety of PDT in sBCC.

Methods: Analytical observational study between January 2014 and January 2017.

Successful treatment of recalcitrant discoid lupus erythematosus with ustekinumab.

We report a 52-year old woman with a 28-year historyof disfiguring facial discoid lupus erythematosus(DLE), persistent despite both classical therapiesand rituximab. Ustekinumab 45 mg was started incombination with methotrexate and intralesionalcorticosteroids. Methotrexate and intralesionalcorticosteroids were withdrawn 30 months later andustekinumab maintained as monotherapy.

Angioma serpiginosum: report of an unusual acral case and review of the literature.

We report the case of a 35-year-old woman with deep-red asymptomatic macules on the plantar and dorsal skin of the right great toe. Histopathologic findings were compatible with Angioma serpiginosum. Immunohistochemical stains for estrogens and progesterone receptors were negative.

Validation of dermoscopy as a real-time noninvasive diagnostic imaging technique for actinic keratosis.

Objective: To validate dermoscopy as a real-time noninvasive diagnostic imaging technique for actinic keratosis (AK).

Design: Prospective study to validate a diagnostic test.

Setting: Dermatology department of a tertiary university hospital in Fuenlabrada, Madrid, Spain.

Dermatomyofibromas presenting in pediatric patients: clinicopathologic characteristics and differential diagnosis.

Dermatomyofibroma represents a rare benign fibroblastic/ myofibroblastic cutaneous tumor that mostly occurs in young adult women. It has been seldom reported in pediatric patients. In this analysis, the clinical, histopathological and immunohistochemical findings of 12 dermatomyofibromas occurring in patients up to 16 years of age are compared with those reported in adults.

Lipschütz [corrected] ulcers--four cases.

A distinctive clinical entity of acute genital ulcers occurring in adolescents, with nonvenereal infectious etiology was described by Lipschütz in 1913. We describe four puberal virgin girls who developed fever and painful genital ulcers. The main causes infectious and noninfectious of ulceration were rejected.

[Cutaneous leukocytoclastic vasculitis and renal carcinoma].

The association between leukocytoclastic vasculitis and solid tumors like renal carcinoma has been infrequently described. We present the case of a 76-year-old woman who began with skin lesions on the legs that were clinically and histologically diagnosed as leukocytoclastic vasculitis. During analysis of the symptoms, she was diagnosed with renal carcinoma.

Takayasu's disease with cutaneous involvement.

Takayasu's arteritis (TA) is a chronic inflammatory and fibrosing arteriopathy that can also involve cutaneous vessels. The disease typically presents with a prepulseless phase that overlaps or is followed by the characteristic pulseless stage. In both phases of TA, cutaneous manifestations may be present.