Generic selectors
Exact matches only
Search in title
Search in content
Post Type Selectors
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 Issue
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
Images in Dermatology
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 in Response to Previous Publication
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
Media and news
Medicolegal Window
Messages
Miscellaneous Letter
Musings
Net Case
Net case report
Net Image
Net Images
Net Letter
Net Quiz
Net Study
New Preparations
News
News & Views
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
Residents' Page
Retraction
Review
Review Article
Review Articles
Reviewers 2022
Revision Corner
Self Assessment Programme
SEMINAR
Seminar: Chronic Arsenicosis in India
Seminar: HIV Infection
Short Communication
Short Communications
Short Report
Snippets
Special Article
Specialty Interface
Studies
Study Letter
Study Letters
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
Systematic Review and Meta-Analysis
Systematic Reviews and Meta-analyses
Systematic Reviews and Meta-analysis
Tables
Technology
Therapeutic Guideline-IADVL
Therapeutic Guidelines
Therapeutic Guidelines - IADVL
Therapeutics
Therapy
Therapy Letter
Therapy Letters
View Point
Viewpoint
What’s new in Dermatology
Generic selectors
Exact matches only
Search in title
Search in content
Post Type Selectors
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 Issue
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
Images in Dermatology
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 in Response to Previous Publication
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
Media and news
Medicolegal Window
Messages
Miscellaneous Letter
Musings
Net Case
Net case report
Net Image
Net Images
Net Letter
Net Quiz
Net Study
New Preparations
News
News & Views
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
Residents' Page
Retraction
Review
Review Article
Review Articles
Reviewers 2022
Revision Corner
Self Assessment Programme
SEMINAR
Seminar: Chronic Arsenicosis in India
Seminar: HIV Infection
Short Communication
Short Communications
Short Report
Snippets
Special Article
Specialty Interface
Studies
Study Letter
Study Letters
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
Systematic Review and Meta-Analysis
Systematic Reviews and Meta-analyses
Systematic Reviews and Meta-analysis
Tables
Technology
Therapeutic Guideline-IADVL
Therapeutic Guidelines
Therapeutic Guidelines - IADVL
Therapeutics
Therapy
Therapy Letter
Therapy Letters
View Point
Viewpoint
What’s new in Dermatology
View/Download PDF

Translate this page into:

Letter To Editor
2008:74:4;395-396
doi: 10.4103/0378-6323.42918
PMID: 18797073

Brachycephaly and syndactyly: Apert's syndrome

Dipankar De, Tarun Narang, Amrinder J Kanwar, Sunil Dogra
 Department of Dermatology, Postgraduate Institute of Medical Education and Research, Chandigarh-160 012, India

Correspondence Address:
Amrinder J Kanwar
Department of Dermatology, Postgraduate Institute of Medica l Education and Research, Chandigarh-160 012
India
How to cite this article:
De D, Narang T, Kanwar AJ, Dogra S. Brachycephaly and syndactyly: Apert's syndrome. Indian J Dermatol Venereol Leprol 2008;74:395-396
Copyright: (C)2008 Indian Journal of Dermatology, Venereology, and Leprology

Sir,

Apert′s syndrome (acrocephalosyndactyly type 1) is a rare malformation syndrome first described by Wheaton in 1894, and later by Apert in 1906. [1] It is characterized by craniosynostosis associated with maxillary hypoplasia, symmetric syndactyly of the hands and feet, and other systemic malformations including mental retardation. Acne is the most common cutaneous association of Apert′s syndrome.

An eight-month-old boy born of nonconsanguineous parents presented with multiple congenital anomalies. The mother′s antenatal period was uneventful, with no history of any infectious illness, medication(s) exposure or addiction during that period. Family history was non-contributory. The patient′s anomalies included craniofacial abnormality and syndactyly of all four limbs. The child had a typical facial appearance with a short, wide head (brachycephaly), frontal bossing, retruded (sunken) mid-face, depressed nasal bridge, upward slanting of the eyes, low-set ears and a low posterior hairline [Figure - 1]. Examination of the upper and lower limbs showed symmetrical syndactyly leading to the fusion of all the fingers and toes [Figure - 2]. The child had both growth and mental retardation.

Apert′s syndrome is specifically related to the paternal age effect having a frequency of one in every 65,000 live births; the affected patients generally do not survive beyond infancy. [1] In those patients who reach adolescence, acne is an important cutaneous manifestation. Most cases are sporadic, although autosomal dominant inheritance as well as germinal mosaicism have been reported. [2] The syndrome is caused by nucleotide alterations resulting in amino acid substitutions, leading to a mutation in the fibroblast growth factor receptor-2 (FGFR-2) gene mapped to chromosome 10q26. [3] Premature fusion of the bones is responsible for bony abnormalities; premature fusion of coronal sutures lead to brachycephaly. Other craniofacial abnormalities include a prominent forehead with skin wrinkling, a broad cranium, and a flat occiput. The shortened bony orbit leads to hypertelorism, proptosis and strabismus. Additional features include a short broad nose with a bulbous tip, micrognathia, and a cleft palate. Intracranial anomalies include megalocephaly, progressive hydrocephalus, hypoplastic white matter, and agenesis of the corpus callosum and limbic structures, leading to cognitive impairment. Cardiac abnormalities including atrial and ventricular septal defects and renal anomalies such as hydronephrosis occur in about 10% of these patients.

The cutaneous abnormalities reported are acne, hyperhidrosis and oculocutaneous albinism. Acne is now known to represent the dermatological hallmark of Apert′s syndrome; it usually appears between the age of nine and 12 years. The acneiform lesions involve not only the face and upper trunk, but also affect the forearms, buttocks, and thighs. Oily skin is striking by the time of adolescence but the etiology of these acneiform lesions remains controversial. Increases in circulatory androgens or the density of sebaceous gland androgen receptors have not been documented. End-organ androgen metabolism defects, structural malformation of pilosebaceous apparatus and a role of FGFR-2 in regulating androgen sensitivity of the pilosebaceous unit have been suggested hypotheses for the acneiform lesions. [4] The skin, eyes and hair may show pigmentary dilution. Other occasional cutaneous abnormalities include interrupted eyebrows, forehead wrinkling, paronychial infections, skin dimpling over the knuckles, shoulders and elbows, as well as lateral plantar hyperkeratosis.

There is no definitive treatment for this syndrome. The prognosis varies from child to child and a multidisciplinary approach is recommended.

References
1.
Cohen MM Jr, Kreiborg S, Lammer EJ, Cordero JF, Mastroiakovo P, Ericson JD, et al . Birth prevalence study of the Apert syndrome. Am J Med Genet 1992;42:655-9.
[Google Scholar]
2.
Allanson JE. Germinal mosaicism in Apert syndrome. Clin Genet 1986;29:429-33.
[Google Scholar]
3.
Hollway GE, Suthers GK, Haan EA, Thompson E, David DJ, Gecz J, et al . Mutation detection in FGFR2 craniosynostosis syndromes. Hum Genet 1997;99:251-5.
[Google Scholar]
4.
Munro CS, Wilkie AO. Epidermal mosaicism producing localized acne: somatic mutation in FGFR2. Lancet 1998;352:704-5.
[Google Scholar]

Fulltext Views
1,794

PDF downloads
1,887
Show Sections