A rare cause of irrevocable childhood alopecia feigning alopecia universalis: Atrichia congenita with papular lesions

نویسندگان

چکیده

Atrichia congenita with papular lesions is rare, autosomal recessive condition that leads to complete hairloss which irreversible and keratin filled lesions. An insertion mutation in the exon 2 of hairless gene responsible for hairloss. Middle lower portions hair follicle are replaced by keratinizing cysts absence shafts. We here reporting a case 8-year-old girl over scalp, eyebrows, eyelashes, body started at birth was gradual 9 months age on view its rarity misdiagnosis.

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Hirschsprung’s disease associated with alopecia universalis congenita: a case report

BACKGROUND Hirschsprung's disease is one of the commonest causes of intestinal obstruction in neonates because of gut motility disorder. It is characterized as a complex genetic heterogenous disorder with variable inheritance. Hirschsprung's disease occurs as an isolated phenotype in majority (70 %) of cases. In other cases it may be associated with syndromes (such as Down's syndrome, Waardenbu...

متن کامل

Rare Presentation of Alopecia Universalis Congenita and Twenty-nail Dystrophy in Siblings

Congenital alopecia universalis is one of the rarest anomaly which involves skin and appendages. The inheritance pattern can be autosomal recessive, X-linked recessive, or autosomal dominant. However, the most common is autosomal recessive form and it is the most severe phenotype. Twenty-nail dystrophy refers to the condition in which all the twenty nails are affected in the form of excessive r...

متن کامل

Childhood follicular mucinosis co-existed with alopecia universalis.

We report a case of a 6-year-old girl presented with diffuse scalp and body hair loss and developed multiple groups of follicular papules on the trunk. She was diagnosed as follicular mucinosis co-existed with alopecia universalis. Histopathological study supported the diagnosis and did not find malignancy cells.

متن کامل

Mechanism 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 کامل

Pachyonychia Congenita-Associated Alopecia

A 5-year-old female, known case of pachyonychia congenita, presented with diffuse hair loss; remaining hairs were easily plucked kinky hairs. Hair samples from patient were investigated using a light microscope. The hairs of the patients were mainly anagen hairs and unlike normal plucked anagen hairs, showed keratinization and cornification of their hair bulbs. No specific hair shaft abnormalit...

متن کامل

ذخیره 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: IP Indian journal of clinical and experimental dermatology

سال: 2022

ISSN: ['2581-4710', '2581-4729']

DOI: https://doi.org/10.18231/j.ijced.2022.042