γ-Secretase Mutation and Consequently Immune Reaction Involved in Pathogenesis of Acne Inversa
نویسندگان
چکیده
منابع مشابه
Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa.
Dowling-Degos disease (DDD) is an autosomal-dominant disorder of skin pigmentation associated with mutations in keratin 5 (KRT5), protein O-fucosyltransferase 1 (POFUT1), or protein O-glucosyltransferase 1 (POGLUT1). Here, we have identified 6 heterozygous truncating mutations in PSENEN, encoding presenilin enhancer protein 2, in 6 unrelated patients and families with DDD in whom mutations in K...
متن کاملAcne inversa.
Acne inversa is a chronic inflammatory skin disease featuring cutaneous and subcutaneous nodular inflammation, fistula formation and discharge of foul-smelling secretions. The disease can lead to functional impairment and psychological problems. There is inflammation of the terminal hair follicles in intertriginous regions, especially perianal, axillary and inguinal areas. Less often there is s...
متن کامل[Acne inversa].
Acne inversa (synonyms are intertriginous acne, acne triad, acne tetrad, hidradenitis suppurativa, pyodermia fistulans sinifica) is a chronic inflammatory disorder of the sebaceous follicles and terminal hair follicles and is one member of the acne family. It is characterized by acne conglobata in an inverse pattern involving the axillary, inguinal, and perigenital regions, together with perifo...
متن کاملAcne inversa: difficulties in diagnostics and therapy
Acne inversa (hidradenitis suppurativa) is a potentially severe and chronic inflammatory disease with a significant negative influence on the quality of life. Usually, lesions are located in the areas of skin folds and it is characterized by the presence of painful nodules and fistulas with a tendency to tissue fibrosis. Currently, it is suggested that follicular occlusion by infundibular hyper...
متن کاملAcne Inversa: Evaluating Antimicrobial Peptides and Proteins
BACKGROUND Acne inversa is a chronic, suppurative relapsing inflammatory skin disease that primarily affects the axillae, perineum and inframammary regions. Evidence suggests that the innate immune system is involved in the pathogenesis of acne inversa. OBJECTIVE To investigate the role of the innate immune system in acne inversa. METHODS Skin biopsies were obtained from inflammatory skin l...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Investigative Dermatology Symposium Proceedings
سال: 2015
ISSN: 1087-0024
DOI: 10.1038/jidsymp.2015.21