Elastosis perforans serpiginosa: causes and associated disorders.

BACKGROUND: Elastosis perforans serpiginosa (EPS) is an uncommon cutaneous disorder classified under perforating diseases (PD); a group of dermatoses with transepidermal extrusion of collagen or elastic tissue. Three EPS subtypes have been reported that differ according to aetiology, associated diseases, and histopathological features. Herein, we report a systematic review of the literature, as well as a case of a 41-year-old woman with Wilson disease treated with penicillamine (PCM), who developed EPS after 11 years of drug intake. OBJECTIVES: To analyse and characterise EPS subtypes based on an evaluation of potential different histological patterns. MATERIALS & METHODS: A systematic literature search in Pubmed was performed to identify articles describing EPS. RESULTS: A peculiar histological pattern was identified in EPS PCM-related patients, either in affected or unaffected skin samples. Using specific elastic fibre stains (Verhoeff-van Gieson, Weigert, and Orcein), fibres appeared with an irregular surface with thorn-like protrusion, probably due to weaker fibre cross-links, making them unable to re-expand after contraction along their long axis. Interestingly, similar histological patterns have also been reported in elastic tissues of vessel walls of the lungs and upper respiratory tract, joints, visceral adventitia, and kidney. CONCLUSIONS: A distinctive histological pattern of PCM-related EPS is observed in affected and normal-appearing skin, as well as extracutaneous elastic tissue, suggesting serious potential widespread drug-induced systemic elastolytic damage.

Alitretinoin reduces erythema in inherited ichthyosis.

BACKGROUND: Acitretin is the main retinoid used to treat severe inherited ichthyosis. Alternatives may be considered if it results ineffective or there are side-effects, or for women of childbearing age. Our objective is evaluation of the effects and tolerance of alitretinoin. An observational retrospective multicentric study was designed to analyse patients with inherited ichthyosis treated by alitretinoin. RESULTS: A total of 13 patients were included, 11 of whom were receiving acitretin at inclusion. The main reason for switching to alitretinoin was a desire for pregnancy, but also because of side-effects or unsatisfactory efficacy. Starting dose was 10 mg/day, increased to 20 or 30 mg/day. Alitretinoin seemed to be more effective than acitretin at reducing erythema, but was less effective at reducing scaling or hyperkeratosis. Global efficacy was considered low for two patients, moderate for nine, and high for two. Treatment was well-tolerated, except for one patient who presented with benign intracranial hypertension leading to discontinuation of treatment. CONCLUSIONS: Alitretinoin may be suitable for hereditary ichthyosis with prominent erythema, especially for women of childbearing age.

Cardiopulmonary anomalies in incontinentia pigmenti patients.

BACKGROUND: Incontinentia pigmenti (IP) is a rare inherited genodermatosis that usually involves the skin, and also teeth, oral cavity, central nervous system, eyes, blood with eosinophilia, and rarely skeletal system, breast, heart, and lungs. Skin lesions usually appear early, at birth or within the first 2 weeks of life, with four different phases tending to follow Blaschko lines that may overlap. CASE REPORT: We report a rare case of a neonate with transient reversible pulmonary hypertension that presented at day 9 of life. She manifested increasing dyspnea and deterioration of respiratory dynamics with a serious pulmonary hypertension without a primary pulmonary disease. Hence, oxygen therapy at high flows and nitric oxide have been administered with an initial response, but, subsequently, because of the worsening of the respiratory activity, she underwent sildenafil and bosentan treatment with respiratory dynamics improvement and progressive decrease of the pulmonary pressures. CONCLUSION: In literature only a few cases of cardiopulmonary anomalies in IP have been described with different outcomes, and these rare complications are probably underestimated by physicians. We could suppose that microangiopathic damages may have a critical role in endothelial alterations, and these processes are probably shared by multiple organs involved in IP and rarely by lungs and heart.

Second primary melanoma on a patient undergoing vemurafenib therapy. A case report.

BACKGROUND: Several side effects have been reported during treatment with vemurafenib, including multiple benign lesions and, less frequently, atypical melanocytic proliferations and second primary melanomas. METHODS: A 46-year-old man undergoing vemurafenib therapy for metastatic malignant melanoma was clinically and dermoscopically monitored using total-body mapping. RESULTS: During BRAF inhibitor (BRAFi) treatment, the patient developed atypical melanocytic lesions and particularly secondary primary melanoma. CONCLUSIONS: Secondary melanomas are usually diagnosed during the early disease stage, and no case of advanced melanomas is reported in the literature, mostly due to careful surveillance in BRAFi-treated patients.