Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression.

Xeroderma pigmentosum (XP) results from biallelic mutations in any of eight genes involved in DNA repair systems, thus defining eight different genotypes (XPA, XPB, XPC, XPD, XPE, XPF, XPG and XP variant or XPV). In addition to cutaneous and ophthalmological features, some patients present with XP neurological disease. It is unknown whether the different neurological signs and their progression differ among groups.

Mohs micrographic surgery for the treatment of primary cutaneous mucinous carcinoma.

Primary cutaneous mucinous carcinoma (PCMC) is a rare adnexal tumour of the skin. Clinically, it appears as a benign cyst, but it has characteristic histopathology. It is a slow-growing tumour that rarely metastasizes but is associated with significant morbidity due to its high recurrence rate.

Dramatic response of metastatic cutaneous angiosarcoma to an immune checkpoint inhibitor in a patient with xeroderma pigmentosum: whole-genome sequencing aids treatment decision in end-stage disease.

"Mutational signatures" are patterns of mutations that report DNA damage and subsequent repair processes that have occurred. Whole-genome sequencing (WGS) can provide additional information to standard diagnostic techniques and can identify therapeutic targets. A 32-yr-old male with xeroderma pigmentosum developed metastatic angiosarcoma that was unresponsive to three lines of conventional sarcoma therapies.

Evaluating the Diagnostic Accuracy of Reflectance Confocal Microscopy to Diagnose Skin Cancer: Protocol for a Prospective, Multicenter Study.

Background: In the United Kingdom, 350,000 patients per year are referred to hospital clinics with suspicious moles, and approximately half undergo a biopsy to identify the 5%-10% who require further treatment. If cancer cannot be ruled out clinically and on the basis of biopsy results, the lesion is surgically removed. One type of precancerous mole, called lentigo maligna, is particularly challenging to delineate and treat.

Our experience of carbon dioxide laser ablation of angiofibromas: Case series and literature review.

Angiofibromas are one of the dermatological hallmarks of tuberous sclerosis. Various ablative treatments have been trialled and more recently topical rapamycin has been proposed. We present our experience of treatment of angiofibromas using carbon dioxide (CO) laser ablation and provide a timely literature review.

Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect.

Xeroderma pigmentosum (XP) is a rare DNA repair disorder characterized by increased susceptibility to UV radiation (UVR)-induced skin pigmentation, skin cancers, ocular surface disease, and, in some patients, sunburn and neurological degeneration. Genetically, it is assigned to eight complementation groups (XP-A to -G and variant). For the last 5 y, the UK national multidisciplinary XP service has provided follow-up for 89 XP patients, representing most of the XP patients in the United Kingdom.

Macromelanosomes: their significantly greater presence in the margins of a lentigo maligna versus solar lentigo.

Background: Macromelanosomes are melanin-containing granules characterized by their large size and spherical or ellipsoidal morphology. They are reported to be present in a variety of pigmented skin lesions, including lentigines. However, there is limited information on macromelanosomes in malignant melanocytic proliferations.

An ulcerated nodule on the nose.

A 75-year-old retired nurse, originally from Barbados, presented to her general practitioner (GP) with a scaling ulcerated nodule on the left side of her nose. She was taking medication for type 2 diabetes, hypertension and glaucoma, but was otherwise well with no systemic symptoms. Her GP diagnosed a patch of eczema; however, a trial of topical steroids was not effective and she was referred to dermatology.

Ten cases of drug reaction with eosinophilia and systemic symptoms (DRESS) treated with pulsed intravenous methylprednisolone.

Drug reaction with eosinophilia and systemic symptoms (DRESS) is a rare, life-threatening, drug-induced illness characterised by a widespread polymorphic eruption, fever and multivisceral involvement. There is little published on the management of DRESS. Prompt recognition and withdrawal of the causative drug is essential, along with supportive treatment.

Rituximab for the treatment of corticosteroid-refractory pemphigus vulgaris with oral and skin manifestations.

Pemphigus vulgaris (PV) is a life-threatening autoimmune blistering disease affecting the skin and mucosa and is associated with increased morbidity and mortality. Once the diagnosis is established, the main stay of treatment of PV is with systemic corticosteroids to control the disease and then to consolidate the management with other immunosuppressive agents. A small group of patients with severe pemphigus, however, remain relcalcitrant to both steroids and azathioprine, and disease is difficult to control.