Papular atrichia: report of 3 cases with uncommon presentation

Authors

  • Arami Shabnam
  • Balighi Kamran
  • Ghiassi Maryam
  • Lajevardi Vahideh
  • Mahdavi-nia Mostafa
  • Moeineddin Fatemeh
  • Nikoo Azita
Abstract:

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 their limbs predominantly on the knees and elbows. According to their history, clinical presentation and pathologic findings, diagnosis of atrichia with papular lesions (APL) with some different features was postulated. Comparing to the known cases of APL with scalp, facial and truncal lesions, the cases presented here do not show such lesions in these sites.

Upgrade to premium to download articles

Sign up to access the full text

Already have an account?login

similar resources

Evidence 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...

full text

uncommon presentation of gastric adenocarcinoma: report of two cases

adenocarcinoma of the stomach was the leading cause of cancer-related death worldwide through most of the 20th century. usual presentations of gastric cancer include anorexia, epigastric pain or discomfort and weakness. rarely, patients present with unusual clinical manifestations. in this article, we report two cases with uncommon presentations of gastric adenocarcinoma. the first patient was ...

full text

Atrichia 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...

full text

Uncommon presentation of giant cell arteritis: report of two cases with scalp necrosis.

Giant cell arteritis (GCA), the most common form of systemic granulomatous vasculitis in adults, preferentially involves large and medium-sized arteries. Scalp necrosis is a rare complication and can be the presenting feature. This report presents two patients of GCA with severe scalp necrosis as the presenting symptoms. Both the patients were treated successfully with selective debridement, lo...

full text

Detection 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...

full text

Nasopharyngeal Pentastomiasis (Halzoun): Report of 3 Cases

A three-member family from Tehran referred with variety of nasopharyngeal symptoms including sneezing, coughing and nasal discharge following consumption of barbecued liver (Kabab).  Thirteen worm-like nymphs of Linguatula serrata were separated from larynx, nose and gum of these patients. The adult parasites live in the nose and paranasal sinuses of dogs and other carnivores.  Although this in...

full text

My Resources

Save resource for easier access later

Save to my library Already added to my library

{@ msg_add @}


Journal title

volume 10  issue 4

pages  338- 344

publication date 2007-12-01

By following a journal you will be notified via email when a new issue of this journal is published.

Keywords

Hosted on Doprax cloud platform doprax.com

copyright © 2015-2023