Common Conditions of the Hand for the Nurse Practitioner: How to Diagnose, How to Manage, and When to Refer to a Hand Surgeon
In many parts of the United States, a plastics-trained hand surgeon can be in limited supply. Depending on individual state law, nurse practitioners can manage common and moderately complex hand conditions, the undertaking of which requires extensive training, high command of the anatomy, and knowing when referral is necessary.
CYLD mutations underlie Brooke-Spiegler, familial cylindromatosis, and multiple familial trichoepithelioma syndromes [Case Report]
Brooke-Spiegler syndrome (BSS), familial cylindromatosis (FC), and multiple familial trichoepithelioma (MFT), originally described as distinct inherited disorders, are characterized by a variety of skin appendage neoplasms. Mutations in the CYLD gene are found in individuals with these syndromes. We describe a single family with affected members exhibiting either the FC or the MFT phenotypes associated with a mutation in the CYLD gene. These findings support the notion that BSS, FC, and MFT represent phenotypic variation of a single defect. Of interest, one of the affected individuals described in this report exhibits a severe phenotype illustrating the morbidity of the disorder.