Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice.

Purpose: Consanguineous couples are at increased risk of being heterozygous for the same autosomal recessive (AR) disorder(s), with a 25% risk of affected offspring as a consequence. Until recently, comprehensive preconception carrier testing (PCT) for AR disorders was unavailable in routine diagnostics. Here we developed and implemented such a test in routine clinical care.

Androgen receptor expression in epidermal and adnexal tumours.

Introduction: Androgen receptor (AR) immunohistochemistry is used in general pathology and in dermatopathology, particularly for sebaceous tumours. The goal of this study was to quantify AR expression in benign and malignant epidermal tumours and adnexal tumours.

Methods: We studied AR expression in 301 skin lesions using standard immunohistochemistry and compared 10 trichoblastomas, 10 sebaceomas and 10 hidradenomas using 5 markers (cytokeratin 7 and 8, PHLDA1, BerEp4 and AR).

[A case of cutaneous tuberculosis evolving for 50 years].

Introduction: Tuberculosis is an infection caused by Mycobacterium (M.) tuberculosis. It is rare in France.

[Not Available].

Actinic keratosis is a premalignant skin lesion resulting from proliferation of atypical epidermal keratinocytes. Actinic keratoses are very frequent and their prevalence is increasing. Risk factors for actinic keratosis include intrinsic and environmental factors, particularly exposure to ultraviolet radiation and advanced age.

[Not Available].

Radiotherapy is an available but not well-known treatment for management of basal cell carcinoma. National organizations have established that standard therapy is complete surgical removal and radiation therapy is an option for inoperable tumors or those where the post-operative defect would be cosmetically disfiguring or functionally disabling. These therapeutic options, with histological sample, should be considered in the multidisciplinary management of patients with basal cell carcinoma.

Abnormal lipid storage related to adipocyte shrinkage in acquired partial lipodystrophy (Barraquer-Simons syndrome).

Background: Acquired partial lipodystrophy (APL) is characterized by the gradual symmetrical loss of subcutaneous fat starting from the face, spreading towards the upper part of the body and sparing the lower extremities.

Objective: We report a 33-year-old woman with facial lipodystrophy, loss of buccal fat pads and breast fat tissue. The subcutaneous fat was preserved in other anatomic regions, and we noted some excess of fat accumulation in the lower abdomen and thighs.

[Rapidly growing squamous cell carcinoma after ingenol mebutate treatment].

Introduction: Ingenol mebutate is an actinic keratosis treatment, which has a dual action mechanism. It allows a rapid cellular death and a severe inflammation.

Observation: We report the case of a 75 years old patient with a rapidly growing tumor 5 weeks after application of ingenol mebutate on typical actinic keratosis.