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December 2019 -
Volume 17, Issue 12

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From the Editor

Editorial
A. Abyad (Chief Editor)
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Original Contribution

Level of Patient Empathy among medical students of Saudi Medical College: A Cross-sectional Survey
[abstract]
[pdf]
Farzana Rizwan Arain
DOI: 10.5742MEWFM.2019.93706

Returnee’s Depression Epidemiology among Secondary School Students in Tikrit-Iraq after Internal Displacement
[abstract]
[pdf]
Islam AR Zaradwy
DOI: 10.5742MEWFM.2019.93707

Accuracy of Pap smear in cervical cancer screening
[abstract]
[pdf]
Zainab Ali Issa, Hamssa Hussein Aloan, Asan Ali Qasim Al Niyazee
DOI: 10.5742MEWFM.2019.93708

Prevalence of Dry Eye Disease in Rheumatoid Arthritis Patients
[abstract]
[pdf]
Hiba Abdelmageed Younis, Zinah Yahya Jawad Al-Quzweeni
DOI: 10.5742MEWFM.2019.93709

Knowledge and awareness of health practice during pregnancy among females of Jeddah City in Saudi Arabia
[abstract]
[pdf]
Rehab Alsaleh, Abdullah K. Alassiri, Asalah F. Hamad, Huda A. Bahasan, Nouf M. Alasiri, Maha A. Aljudaibi
DOI: 10.5742MEWFM.2019.93710

Knowledge and awareness of age related eye diseases in the population of the western region of Saudi Arabia
[abstract]
[pdf]
Intessar Sultan, Mohammed G. Alsaedi, Fatima A. Ahmed, Khalid F. Alharbi, Nouf M.Alasiri
DOI: 10.5742MEWFM.2019.93711

Fatigue in rheumatoid arthritis patients; association with mood status, Kingdom of Saudi Arabia: a cross-sectional study
[abstract]
[pdf]
Jamal A. Albishri, Anhar A. Algurashi, Ameenah A. Alkhaldi, Hadeel M. Assami, Shroug R. Almalki, Reema F. Aloufi
DOI: 10.5742MEWFM.2019.93712

Mid-Term Outcomes of Laparoscopic Sleeve Gastrectomy in a Single Private Institution
[abstract]
[pdf]
Alaa Jaber Othman , Nouf Alasiri, Yasser Tohme, Samer M AlAthath, Tariq M Awidah , Ahmed Bazuhair, Ahmed Alathath, Mohammed AlGabbani, Haytham Alabbas, Tahir Yunus
DOI: 10.5742MEWFM.2019.93713

Population and Community Health

Breastfeeding knowledge, attitude and practice among mothers attending Maternity Hospital at King Faisal Medical complex, Taif city, Saudi Arabia 2018
[abstract]
[pdf]
Afnan Faleh Alharthi, Rawan Nawar Al-Holaifi, Bayan Abdullah Alnemari, Asayel Abdullah Alosaimi, Asmaa Dhafer Alamri, Adil Ali Nassir Ahmed Ayed
DOI: 10.5742MEWFM.2019.93715

Knowledge, Attitude and Practice About Epilepsy among Elementary School teachers in Taif City, Saudi Arabia
[abstract]
[pdf]
Wardah M. Alharthi , Shrouq R. Almalki , MBBS, Ameenah A. Alkhaldi , Nouf M. Althobati, Ayman Abdelbaky Atalah, Naif Edah Alomairi
DOI: 10.5742MEWFM.2019.9371682

Awareness and knowledge of congenital infections (TORCH) among women and health care providers in Al Taif area Saudi Arabia
[abstract]
[pdf]
Manal A. Elnashar, Nisreen Kh. Aref, Ruba G. Qadi, Aishah A. Al-kabi, Jameela A. ALMathami
DOI: 10.5742MEWFM.2019.93714

School-entry Screening Program for Ear and Hearing Problems in Tikrit, Iraq
[abstract]
[pdf]
Islam AR Zaradwy
DOI: 10.5742MEWFM.2019.93717

Knowledge and awareness of community about pediatric nocturnal enuresis in Taif city, 2018
[abstract]
[pdf]
Amjaad F. Algethami , Norah M. Alotaibi , Hanaa A. Alrbeeai , Hind A. Al humayani , Najmah A. Alotaibi, Nada E. Algethami
DOI: 10.5742MEWFM.2019.93718

Knowledge of diabetes mellitus risk factors and complications among the students at Taif University
[abstract]
[pdf]
Abdullah S. Almalki, Nada A. Almalki, Asrar A. Althubaiti, Ghadder F. Althubaiti, Najwa S. Alotaibi, Hanan A. Alshahrani
DOI: 10.5742MEWFM.2019.93721

Case Report

CDH3 mutation associated with ectodermal dysplasia and hair abnormalities
[abstract]
[pdf]
Afnan Hasanain, Mohammed G. Alsaedi , Maram A. Aljohani, Shereen M. Abd El-Ghany, Abdulmonem Almutawa
DOI: 10.5742MEWFM.2019.93720



Middle East Quality Improvement Program
(MEQUIP QI&CPD)

Chief Editor -
Abdulrazak Abyad MD, MPH, MBA, AGSF, AFCHSE
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Email: aabyad@cyberia.net.lb
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medi+WORLD International
AUSTRALIA
Email: lesleypocock@mediworld.com.au
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December 2019 - Volume 17, Issue 12

CDH3 mutation associated with ectodermal dysplasia and hair abnormalities

Afnan Hasanain (1)
Mohammed G. Alsaedi (2)
Maram A. Aljohani (2)
Shereen M. Abd El-Ghany (3,4)
Abdulmonem Almutawa (5,6)

(1) Consultant Dermatologist, King Faisal Specialist center Jeddah
(2) Medical intern at Ibn Sina National College for Medical Science
(3) Department of Pediatrics, Ibn Sina National College for Medical Studies, Jeddah, Kingdom of Saudi Arabia
(4) Department of Pediatrics, Hematology and Oncology Unit, Ain Shams University, Cairo, Egypt
(5) Deputy Chairman, Department of Pathology and Laboratory Medicine
(6) Consultant Pathologist and Dermato-pathologist, King Faisal specialist Hospital and Research Centre, Jeddah

Corresponding author:
Dr. Afnan Hasanain
Affiliations: Consultant Dermatologist,
King Faisal Specialist center Jeddah,
Saudi Arabia
Tel.: 0593331003
Email: afnanhasanain@gmail.com

Received: October 2019; Accepted: November 2019; Published: December 1, 2019. Citation: Afnan Hasanain et al. CDH3 mutation associated with ectodermal dysplasia and hair abnormalities.
World Family Medicine. 2019; 17(12): 107-113. DOI: 10.5742MEWFM.2019.9372

Abstract

Background: Hypotrichosis with juvenile macular dystrophy (HJMD) is a rare autosomal recessive disorder characterized by impaired hair growth and progressive macular degeneration, leading to blindness.

Objectives: The aim of this study is to present a case of HJMD from Saudi Arabia.

Methods: We present a six-year-old Saudi girl who was referred to the Dermatology Clinic at King Faisal Specialist Hospital and Research Center (General Organization) in Jeddah, Saudi Arabia because of sparse hair with no other phenotypic abnormalities. She had multiple short sparse, lusterless hair appearance with a few alopecic patches and plaques. Her macula exhibited retinal and choroidal dystrophy with parapapillary retinal pigmentation. Genetic test showed positive homozygous pathogenicvariant in the CDH3 gene, which is linked to HJMD.

Results: Hair examination revealed multiple short, sparse and lusterless appearance with few alopecic patches and plaques. The skin was dry with normal temperature. The Macula exhibited retinal and choroidal dystrophy with parapapillary retinal pigmentation with no decrease of the retinal nerve fiber layer in both eyes. Hair biopsy was taken, and it showed trichorrhexis nodosa. The genetic test showed a positive homozygous pathogenic variant in the CDH3 gene, which is linked to autosomal recessive congenital hypotrichosis and macular dystrophy syndrome.

Conclusion: HJMD is a rare genetic cause of hypotrichosis that should be considered when assessing patients with abnormal hair growth. Fundus examination is important in suspected cases even with no visual symptoms. Further molecular DNA analysis is needed to identify the type of mutation in our patient.

Key words: CDH3, mutation, ectodermal, dysplasia, hair, abnormalities



 


 
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