Functional analysis of MMR gene VUS from potential Lynch syndrome patients.

Lynch syndrome is caused by inactivating variants in DNA mismatch repair genes, namely MLH1, MSH2, MSH6 and PMS2. We have investigated five MLH1 and one MSH2 variants that we have identified in Turkish and Tunisian colorectal cancer patients. These variants comprised two small deletions causing frameshifts resulting in premature stops which could be classified pathogenic (MLH1 p.

Acute generalized exanthematous pustulosis: Analysis of cases managed in a Tunisian tertiary hospital.

Acute generalized exanthematous pustulosis (AGEP) is a severe and life-threatening cutaneous adverse reaction. Drug-induced AGEP is mainly related to antibiotics. More recently, AGEP following spider bites has been increasingly described.

Atypical truncal necrobiosis lipoidica: The role of dermoscopy.

Necrobiosis Lipoidica (NL) is a rare granulomatous skin condition typically occurring in lower extremities. We report an atypical case of NL, and we highlight the role of dermoscopy in the diagnostic approach.

Cutis verticis gyrata in a 24-year-old young man revealing a T-cell lymphoblastic lymphoma.

T-cell lymphoblastic lymphoma (T-LBL) is frequently revealed by amediastinal mass or peripheral lymphadenopathy. Skin lesions in T-LBLusually present as multiple nodules associated with multiple peripherallymphadenopathy and bone marrow invasion. Our patient is particular bythe revealing presentation of the lesions as Cutis verticis gyrate.

Paclitaxel extravasation treated with systemic corticosteroids.

Chemotherapy extravasation is a rare but severe cutaneous complication associated with administration of intravenous chemotherapy. Extravasation causes serious disability and diminishes the quality of life in patients with cancer undergoing antineoplastic therapy. Treatment of chemotherapy extravasation is not standardized.

Multiple sebaceous tumors in a 58-year-old man with colorectal cancer.

The Muir-Torre Syndrome is a rare genodermatosis, defined by the occurrence of sebaceous neoplasia and internal malignancies and caused by mutations in the mismatch repair gene. We describe the case of 58-year-old man who, over the course of several years, had multiple skin lesions and colon cancer. The syndrome was diagnosed using Sanger sequencing, which allowed us to find the causative mutation.

Two Erratic Cases of Tinea Capitis in Adults: Utility of Trichoscopy.

Tinea capitis (TC) is a common infectious disease throughout the world, mainly seen in children, but it can occur in adults. Even if mycological examination is essential to confirm the diagnosis, it has been proved that trichoscopy is a very effective useful tool in the screening of TC. Herein, we report two cases of adult TC with atypical clinical presentations causing a diagnostic delay of several years.