Generic selectors
Exact matches only
Search in title
Search in content
Search in posts
Search in pages
Filter by Categories
15th National Conference of the IAOMFP, Chennai, 2006
Abstract
Abstracts from current literature
Acne in India: Guidelines for management - IAA Consensus Document
Addendum
Announcement
Art & Psychiatry
Article
Articles
Association Activities
Association Notes
Award Article
Book Review
Brief Report
Case Analysis
Case Letter
Case Letters
Case Notes
Case Report
Case Reports
Clinical and Laboratory Investigations
Clinical Article
Clinical Studies
Clinical Study
Commentary
Conference Oration
Conference Summary
Continuing Medical Education
Correspondence
Corrigendum
Cosmetic Dermatology
Cosmetology
Current Best Evidence
Current View
Derma Quest
Dermato Surgery
Dermatopathology
Dermatosurgery Specials
Dispensing Pearl
Do you know?
Drug Dialogues
e-IJDVL
Editor Speaks
Editorial
Editorial Remarks
Editorial Report
Editorial Report - 2007
Editorial report for 2004-2005
Errata
Erratum
Focus
Fourth All India Conference Programme
From Our Book Shelf
From the Desk of Chief Editor
General
Get Set for Net
Get set for the net
Guest Article
Guest Editorial
History
How I Manage?
IADVL Announcement
IADVL Announcements
IJDVL Awards
IJDVL AWARDS 2015
IJDVL Awards 2018
IJDVL Awards 2019
IJDVL Awards 2020
IJDVL International Awards 2018
Images in Clinical Practice
In Memorium
Inaugural Address
Index
Knowledge From World Contemporaries
Leprosy Section
Letter in Response to Previous Publication
Letter to Editor
Letter to the Editor
Letter to the Editor - Case Letter
Letter to the Editor - Letter in Response to Published Article
LETTER TO THE EDITOR - LETTERS IN RESPONSE TO PUBLISHED ARTICLES
Letter to the Editor - Observation Letter
Letter to the Editor - Study Letter
Letter to the Editor - Therapy Letter
Letter to the Editor: Articles in Response to Previously Published Articles
Letters to the Editor
Letters to the Editor - Letter in Response to Previously Published Articles
Letters to the Editor: Case Letters
Letters to the Editor: Letters in Response to Previously Published Articles
Medicolegal Window
Messages
Miscellaneous Letter
Musings
Net Case
Net case report
Net Image
Net Letter
Net Quiz
Net Study
New Preparations
News
News & Views
Obervation Letter
Obituary
Observation Letter
Observation Letters
Oration
Original Article
ORIGINAL CONTRIBUTION
Original Contributions
Pattern of Skin Diseases
Pearls
Pediatric Dermatology
Pediatric Rounds
Perspective
Presedential Address
Presidential Address
Presidents Remarks
Quiz
Recommendations
Regret
Report
Report of chief editor
Report of Hon : Treasurer IADVL
Report of Hon. General Secretary IADVL
Research Methdology
Research Methodology
Resident page
Resident's Page
Resident’s Page
Residents' Corner
Residents' Corner
Retraction
Review
Review Article
Review Articles
Revision Corner
Self Assessment Programme
SEMINAR
Seminar: Chronic Arsenicosis in India
Seminar: HIV Infection
Short Communication
Short Communications
Short Report
Special Article
Specialty Interface
Studies
Study Letter
Supplement-Photoprotection
Supplement-Psoriasis
Symposium - Contact Dermatitis
Symposium - Lasers
Symposium - Pediatric Dermatoses
Symposium - Psoriasis
Symposium - Vesicobullous Disorders
SYMPOSIUM - VITILIGO
Symposium Aesthetic Surgery
Symposium Dermatopathology
Symposium-Hair Disorders
Symposium-Nails Part I
Symposium-Nails-Part II
Tables
Technology
Therapeutic Guidelines
Therapeutic Guidelines - IADVL
Therapeutics
Therapy
Therapy Letter
View Point
Viewpoint
What’s new in Dermatology
View/Download PDF
Letter to the Editor
2011:77:1;70-72
doi: 10.4103/0378-6323.74994
PMID: 21220888

Atrichia congenita with papular lesions

Mary Thomas, Sheela Daniel
 Department of Dermatology, Schieffelin Institute of Health Research and Leprosy Center, Karigiri, Vellore, Tamil Nadu, India

Correspondence Address:
Mary Thomas
Bangalore Baptist Hospital, Bellary Road, Hebbal, Bangalore- 560024
India
How to cite this article:
Thomas M, Daniel S. Atrichia congenita with papular lesions. Indian J Dermatol Venereol Leprol 2011;77:70-72
Copyright: (C)2011 Indian Journal of Dermatology, Venereology, and Leprology

Sir,

Atrichia congenita with papular lesions (APL) represents a complex and heterogenous group of genodermatoses characterized clinically by complete and irreversible hair loss shortly after birth, and is associated with the development of keratin-filled cysts over the body resulting from homozygous mutations in the hairless gene (HR). [1]

A 38-year-old lady presented with complete loss of hair on the body. She had scanty scalp hair at birth which was gradually lost. At 1 year of age, she developed multiple skin colored lesions on the face and body, which progressively increased in number. By the age of 2 years, she had complete loss of scalp and body hair. Her alopecia was unresponsive to therapy [Figure - 1]. She did not give a history of delayed milestones, decreased sweating, dimness of vision, decreased hearing, seizures, atopy, or bone pains. She was born of a second degree consanguineous marriage. Her siblings were asymptomatic. None of her family members had similar complaints.

Figure 1 :Papular lesions on the face associated with universal alopecia. Patient is wearing a wig

On examination, she had complete absence of hair on the body and scalp. Multiple skin colored smooth papules and nodules of size 0.5-2 cm were present on the entire body. Suture lines on the scalp were hypopigmented. She had no abnormalities related to her mucosae, nails, teeth and sweat glands. Her palms and soles were normal. She had no bony abnormalities, dysmorphic features or systemic involvement.

The differential diagnoses considered for this patient included Alopecia universalis, APL, Vitamin D dependent rickets type II and Ectodermal dysplasia.

A skin biopsy from a nodule on the right forearm revealed multiple dermal cysts containing keratinous material. No normal hair follicles were visualized. There was no evidence of inflammation [Figure - 2].

Figure 2 :Histopathology of a nodule on the right forearm revealed multiple dermal cysts containing kerationus material. No normal hair follicles were visualized. There was no evidence of inflammation (H and E, ×40)

Based on the clinical presentation and histopathology, a diagnosis of APL was made.

APL is a rare, autosomal recessive form of total alopecia of the scalp, eyebrows, eyelashes, axillary and pubic hair, characterized by hair loss soon after birth and the development of keratin-filled cysts over extensive areas of the body. The patients have normal development, hearing, teeth and nails. There are no abnormalities of sweating. Heterozygous individuals have normal hair and are clinically indistinguishable from genotypically normal persons. [2] This condition has been noted for decades among gypsies known as Irish Travelers, who have existed as a distinct indigenous ethnic minority within Ireland. It was first referred to as congenital atrichia by Ahmad et al. [3]

The hair matrix cells in APL appear to undergo a premature and massive apoptosis, together with a concomitant decline in Bcl-2 expression, a loss of Neural Cell Adhesion Molecule (NCAM) positivity, and a disconnection from the overlying epithelial sheath essential for the movement of the dermal papilla. As a consequence, the hair bulbs and dermal papillae remain stranded in the dermis, and indispensable messages between the dermal papillae and stem cells in the bulge are not transmitted, so no further hair growth occurs. [2]

The molecular basis of this disease remains obscure. Mutations in the human hairless gene located on chromosome 8p21.2 which encodes a putative single zinc-finger transcription factor protein are believed to regulate catagen remodeling in the hair cycle. A missense mutation (C622G) in the zinc-finger domain of the human hairless gene, a single base pair deletion (3434del C) in the hairless gene and deletion mutations in exons 2 and 8 of the human hairless gene have been described in APL. Phenotypic heterogenicity suggests different roles for different regions of the hairless gene mutated in APL. [2]

Miller et al. [4] reported a patient with Vitamin D resistant rickets type IIA, a compound heterozygote for mutations in the Vitamin D receptor gene (VDR) in which the phenotype of atrichia with papular lesions was identical to that seen in patients carrying mutations in the HR gene. It is hypothesized that the VDR and HR genes, which are both zinc-finger proteins, may be in the same genetic pathway that controls postnatal cycling of the hair follicle. [4]

Yip et al. [5] proposed revised clinical criteria for APL based on their personal observation and have made a retrospective analysis of cases described in literature. These features are listed in [Table - 1].

Table 1 :Diagnostic criteria for APL

Published estimates of the prevalence of APL remain surprisingly low, considering that pathogenetic mutations in HR have been found in distinct populations around the world. [2] APL is more common than previously thought and is often mistaken for the putative autoimmune form of alopecia universalis. [5]

Acknowledgments

We would like to acknowledge the contributions of Dr. Priva Aley Joseph MD, Dr. Joyce Ponnaiya MD and Dr. Mary Jacob DVD MNAMS.

References
1.
Indelman M, Bergman R, Lestringant GG, Peer G, Sprecher E. Compound heterozygosity for mutations in the hairless gene causes atrichia with papular lesions. Br J Dermatol 2003;148:553-7.
[Google Scholar]
2.
Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MD. MIM Number: {209500}. Available from: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=209500 [last cited on 2003 May 9].
[Google Scholar]
3.
Ahmad W, Panteleyev AA, Christiano AM. The molecular basis of congenital atrichia in humans and mice: Mutations in the hairless gene (Symposium Proceedings/the Society for Investigative Dermatology). J Invest Dermatol 1999;4:240-3.
[Google Scholar]
4.
Miller J, Djabali K, Chen T, Liu Y, Ioffreda M, Lyle S, et al. Atrichia caused by mutations in the vitamin D receptor gene is a phenocopy of generalized atrichia caused by mutations in the hairless gene. J Invest Dermatol 2001;117:612-7.
[Google Scholar]
5.
Zlotogorski A, Panteleyev AA, Aita VM, Christiano AM. Clinical and molecular diagnostic criteria of congenital atrichia with papular lesions. J Invest Dermatol 2001;117:1662-5.
[Google Scholar]

Fulltext Views
196

PDF downloads
62
Show Sections