We propose that the reduced thickness of the dermis as determined by high-resolution 20-MHz ultrasound can be used as a new minor criterion in the diagnosis of the classical and the hypermobility types of EDS.

A 46-year-old woman was diagnosed in 2013 with a choroid melanoma treated with plaque brachytherapy. A year later, metastatic disease in the liver was confirmed with biopsy and chemotherapy with Dacarbazine was administered. After three cycles, a computerized tomography (CT) evidence disease progression in the liver and therapy with the anti-CTLA4 antibody, Ipilimumab, was started (Dose: 3 mg/Kg. Total dose per cycle: 180 mg). One week after the fourth administration, the patient was remitted to our department because of generalized pruritus and cutaneous lesions on the lower limbs. Clinical examination revealed bilateral and symmetrical erythematous pretibial plaques and nodules (FIG. 1). Both lesions were biopsied, and pathology showed noncaseating granulomas in the dermis consistent with sarcoidosis (FIG. 2). Blood tests revealed an increased angiotensin-converting enzyme (107 U/L. Normal range, 8-52 U/L). The pretibial plaques were treated with topical clobetasol with a significant improvement. During radiological follow-up progression of the liver metastatic disease was detected and administration of Ipilimumab was stopped following the induction therapy, replacing the treatment.The patient is now participating in a new clinical trial. One month after discontinued Ipilimumab she reported progressive dyspnea. CT showed a new nodule on the right lower lobe and fibrous tracts and functional lung tests revealed severe decrease in carbon monoxide diffusing capacity (20% of predicted value). A bronchoscopy was normal and the broncho-alveolar lavage showed lymphocytosis with an inverted CD4:CD8 ratio (0.36). Although the CD4/CD8 ratio is usually high in pulmonary sarcoidosis, it was decided to initiate treatment with oral corticosteroids. After a few days the patient showed clinical improvement without relapse of dyspnea until now. DiscussionIpilimumab is a humanized monoclonal antibody against cytotoxic T-lymphocyte associated antigen-4 (CTLA-4) which has proved to increase survival in patients with metastatic melanoma (1). CTLA-4 is a negative regulator of T-cell activation so its blockade is thought to enhance an antitumor immune response. Its mechanism of action may be responsible for autoimmune adverse events like enterocolitis, hypophysitis, dermatitis, uveitis, vitiligo, arthritis, or hepatitis. A recent systematic review and meta-analysis tried to assess the incidence and nature of immune related adverse events associated with anti-CTLA-

BackgroundMultiple familial trichoepithelioma type 1 (MFT1; MIM 601606), a rare monogenic skin disease with autosomal dominant inheritance, is characterized by the development of multiple skin-colored papules on the central area of the face, frequently occurring in the nasolabial area. The disease is associated with various mutations in the cylindromatosis (CYLD; MIM 605018) gene that are also responsible for familial cylindromatosis (FC) and Brooke-Spiegler syndrome (BSS).MethodsRecently we have identified a Spanish MFT1 pedigree with two affected family members (father and daughter). Direct sequencing of the CYLD gene revealed a worldwide recurrent heterozygous nonsense mutation (c.2272C/T, p.R758X) in the patients.ResultsThis mutation has already been detected in patients with all three clinical variants – BSS, FC and MFT1 – of the CYLD-mutation spectrum. Haplotype analysis was performed for the Spanish patients with MFT1, Dutch patients with FC and an Austrian patient with BSS, all of whom carry the same heterozygous nonsense p.R758X CYLD mutation.ConclusionsOur results indicate that this position is a mutational hotspot on the gene and that patients carrying the mutation exhibit high phenotypic diversity.Electronic supplementary materialThe online version of this article (doi:10.1186/s12863-016-0346-9) contains supplementary material, which is available to authorized users.

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PPDA sensitisation is relatively common in the child and adolescent population. The most frequent origin is the performing of Henna tattoos adulterated with PPDA. Adolescents are at the higher risk of developing ACD due to Henna tattoos. Henna tattooing should be strongly discouraged in children.