Compound heterozygous mutations in the hairless gene in atrichia with papular lesions.
نویسندگان
چکیده
Amy S Paller, George Varigos, Arye Metzker, Robert C Bauer, Jacinta Opie, Amalia Martinez-Mir, Angela M Christiano and Abraham Zlotogorski Departments of Dermatology and Pediatrics, Northwestern University Medical School, Chicago, Illinois, USA Department of Dermatology, Royal Childrens' Hospital, Parkville, Victoria, Australia Department of Dermatology, Sourasky Medical Center, Tel Aviv, Hadassah Medical Center, Jerusalem, Israel Department of Genetics and Development, Columbia University, New York, USA Department of Dermatology, Columbia University, New York, USA Correspondence: Abraham Zlotogorski, MD, Department of Dermatology, Hadassah Medical Center, PO Box 12000, Jerusalem 91200, Israel; Email: [email protected]
منابع مشابه
Papular atrichia: report of 3 cases with uncommon presentation
Atrichia with papular lesions (APL) is a rare, autosomal recessive syndrome with total alopecia in which mutations in the hairless gene have been shown to underlie the phenotype. We report here three cases, two 16 and 18 years old cousins and a 15 year-old-girl with a history of shedding of scalp, eyebrow and eye lashes in infancy. Later in life they developed numerous erythematous papules on t...
متن کاملEvidence for pseudodominant inheritance of atrichia with papular lesions.
Atrichia with papular lesions is a rare form of total alopecia, in which mutations in the hairless gene have been shown to underlie the phenotype. In the literature to date, atrichia with papular lesions has generally been reported to be inherited in an autosomal recessive manner. A few rare cases exist, however, in which parent-to-child transmission of atrichia with papular lesions has been do...
متن کاملDetection of a novel missense mutations in atrichia with papular lesions.
BACKGROUND Atrichia with papular lesions (APL) is a rare inherited disease characterized by early onset of total hair loss, followed by papular lesions over the extensor areas of the body. Recently, mutations in the human hairless (HR) gene have been implicated in its pathogenesis. The identification of mutations in the HR gene is important for differentiating between APL and alopecia universal...
متن کاملAtrichia with papular lesions in a Kuwaiti boy
The Gulf Journal of Dermatology and Venereology ABSTRACT Atrichia with papular lesions (APL) is a rare autosomal recessive disorder resulting in complete and irreversible hair loss shortly after birth. Affected individuals also develop papular lesions of keratin-filled follicular cysts over extensive areas of the body. Mutations in the hairless gene have been shown to underlie the phenotype. We...
متن کاملMechanism of JmjC-containing protein Hairless in the regulation of vitamin D receptor function.
The JmjC-domain-containing protein Hairless (HR) and the vitamin D receptor (VDR) play a critical role in the maintenance of hair growth. Mutations in HR or VDR cause alopecia in humans and mice. Here we show that HR interacts with VDR and induces VDR relocalization in the nuclei. HR associates and colocalizes with nuclear receptor co-repressor (N-CoR) which is localized to subnuclear structure...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- The Journal of investigative dermatology
دوره 121 2 شماره
صفحات -
تاریخ انتشار 2003