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Prof. Dr. Ghada El Kamah
Coordinator of the Hereditary Blood Disorders (HBD) and Genodermatoses Clinics and Research Team. Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, El Buhouth St., Dokki, Cairo, Egypt.

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Research Keywords & Expertise

0 Human genetics testing
0 Counseling and genotype–phenotype correlation in rare and common diseases, particularly HBD and genodermatoses
0 Research on genetic therapeutic approaches
0 In vitro gene editing
0 Gene expression studies and microRNAs both as biomarkers and their therapeutic values

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Journal article
Published: 20 February 2021 in Genes
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Xeroderma pigmentosum is a rare autosomal recessive skin disorder characterized by freckle-like dry pigmented skin, photosensitivity, and photophobia. Skin and ocular symptoms are confined to sun exposed areas of the body. Patients have markedly increased risk for UV-induced skin, ocular, and oral cancers. Some patients develop neurodegenerative symptoms, including diminished tendon reflexes and microcephaly. In this study, we describe clinical and genetic findings of 36 XP patients from Egypt, a highly consanguineous population from North Africa. Thorough clinical evaluation followed by Sanger sequencing of XPA and XPC genes were done. Six novel and seven previously reported mutations were identified. Phenotype-genotype correlation was investigated. We report clinical and molecular findings consistent with previous reports of countries sharing common population structure, and geographical and historical backgrounds with implications on common ancestral origins and historical migration flows. Clinical and genetic profiling improves diagnosis, management, counselling, and implementation of future targeted therapies.

ACS Style

Eman Rabie; Khalda Amr; Suher Zada; Heba El-Sayed; Mohamad El Darouti; Ghada El-Kamah. Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins. Genes 2021, 12, 295 .

AMA Style

Eman Rabie, Khalda Amr, Suher Zada, Heba El-Sayed, Mohamad El Darouti, Ghada El-Kamah. Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins. Genes. 2021; 12 (2):295.

Chicago/Turabian Style

Eman Rabie; Khalda Amr; Suher Zada; Heba El-Sayed; Mohamad El Darouti; Ghada El-Kamah. 2021. "Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins." Genes 12, no. 2: 295.

Journal article
Published: 15 December 2020 in Contemporary Pediatric Dentistry
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Aim: Beta-thalassemia (β-thalassemia) major is one of the most common inherited genetic blood disorders and is characterized by many systemic manifestations and skeletal problems. Children with β-thalassemia have a high caries index and must receive proper dental treatment to achieve better oral health. The aim of study is to compare two types of vital pulp therapies in children with β-thalassemia major. Methods: Sixty-five children with β-thalassemia major having carious primary molars were selected from Ain Shams University and the Hereditary Blood Disorders Clinic at the National Research Centre to be treated at Pediatric Dentistry, Department, Faculty of Dentisrtry, Ain Shams University . Patients received one of both types of vital pulp therapies: mineral trioxide aggregate (MTA) pulpotomy and indirect pulp capping. The children were divided into two groups as follow: Group I (n=30) received MTA pulpotomy and Group II (n=35) received indirect pulp capping using high viscosity glass ionomer cement. Clinical and radiographic follow-ups were done at the baseline, six months, and after one year. Patient preferences for types of vital pulp therapies were evaluated at the end of treatment. Comparison of the groups with qualitative data was done using Chi-square test. Comparison of the groups with quantitative data and a parametric distribution was done using an independent t-test at significance level 0.05. Results: The findings revealed success rates of 90% in Group I and 100% in Group II. There was 10% clinical and radiographic failure in Group I and 0% in Group II but the difference between the two groups when compared to each other was statistically not significant (p= 0.055). Conclusions: Both types of vital pulp therapies showed high success rates in children with β-thalassemia major and thus can be used safely in these patients. However, minimally invasive types of dental treatment may be preferred in children with β-thalassemia major as indirect pulp capping for being less invasive and requires less effort, fatigue and time.

ACS Style

Leila Mounir El. Gibaly; Mohamed Zayed Radwan; Amr Mahmoud Abdel-Aziz; Ghada Yousef El.Kamah. Comparison of two vital pulp therapies in β-Thalassemic children. Contemporary Pediatric Dentistry 2020, 1, 33 -41.

AMA Style

Leila Mounir El. Gibaly, Mohamed Zayed Radwan, Amr Mahmoud Abdel-Aziz, Ghada Yousef El.Kamah. Comparison of two vital pulp therapies in β-Thalassemic children. Contemporary Pediatric Dentistry. 2020; 1 (1):33-41.

Chicago/Turabian Style

Leila Mounir El. Gibaly; Mohamed Zayed Radwan; Amr Mahmoud Abdel-Aziz; Ghada Yousef El.Kamah. 2020. "Comparison of two vital pulp therapies in β-Thalassemic children." Contemporary Pediatric Dentistry 1, no. 1: 33-41.

Symposium
Published: 02 November 2019 in Hemoglobin
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Ghada El-Kamah. Perspectives on Hemoglobinopathies from Egypt: Challenges and Burden to the Healthcare System. Hemoglobin 2019, 43, 324 -324.

AMA Style

Ghada El-Kamah. Perspectives on Hemoglobinopathies from Egypt: Challenges and Burden to the Healthcare System. Hemoglobin. 2019; 43 (6):324-324.

Chicago/Turabian Style

Ghada El-Kamah. 2019. "Perspectives on Hemoglobinopathies from Egypt: Challenges and Burden to the Healthcare System." Hemoglobin 43, no. 6: 324-324.

Original paper
Published: 06 August 2019 in Archives of Dermatological Research
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Assessment of ten Egyptian patients with Sjögren–Larsson syndrome (SLS) detected; unusual clinical manifestations, a first report of brain atrophy in SLS, some patients exhibited neither retinal dots nor white matter changes previously reported as essential manifestations. We identified five mutations in ALDH3A2 gene including a novel one and suggest a founder effect. Sjögren–Larsson syndrome is a rare autosomal recessive inborn error of lipid metabolism caused by mutations in the ALDH3A2 gene that codes for fatty aldehyde dehydrogenase and result in a triad of ichthyosis, spasticity, and mental retardation. Clinical, radiological, biochemical, and neurophysiological evaluation in ten SLS patients descending from seven unrelated Egyptian pedigrees was followed by Sanger sequencing of ALDH3A2 performed by ABI 3500. All patients presented with SLS triad; ichthyosis, spasticity of four limbs and hyperreflexia with an intelligent quotient (IQ) ranging from (39 to 69). Other manifestations were dysmorphic features, seizures, and skeletal and ophthalmological affection. Mutational analysis of ALDH3A2 gene revealed three missense, one splice site, and one novel stop codon mutation; c.991G>T (p.E331X). Biochemical studies showed decrease of fatty aldehyde dehydrogenase activity. Our results reinforce the distinct clinical, radiological, and biochemical features of ALDH3A2-related SLS which are the clue for targeted molecular testing. Moreover, we present additional unreported clinical findings and a novel mutation thus expanding the phenotypic and mutational spectrum of this rare disorder.

ACS Style

Khalda Amr; Hala T. El-Bassyouni; Samira Ismail; Eman Youness; Sherien M. El-Daly; Abeer Y. Ebrahim; Ghada El-Kamah. Genetic assessment of ten Egyptian patients with Sjögren–Larsson syndrome: expanding the clinical spectrum and reporting a novel ALDH3A2 mutation. Archives of Dermatological Research 2019, 311, 721 -730.

AMA Style

Khalda Amr, Hala T. El-Bassyouni, Samira Ismail, Eman Youness, Sherien M. El-Daly, Abeer Y. Ebrahim, Ghada El-Kamah. Genetic assessment of ten Egyptian patients with Sjögren–Larsson syndrome: expanding the clinical spectrum and reporting a novel ALDH3A2 mutation. Archives of Dermatological Research. 2019; 311 (9):721-730.

Chicago/Turabian Style

Khalda Amr; Hala T. El-Bassyouni; Samira Ismail; Eman Youness; Sherien M. El-Daly; Abeer Y. Ebrahim; Ghada El-Kamah. 2019. "Genetic assessment of ten Egyptian patients with Sjögren–Larsson syndrome: expanding the clinical spectrum and reporting a novel ALDH3A2 mutation." Archives of Dermatological Research 311, no. 9: 721-730.

Original article
Published: 29 May 2019 in Molecular Genetics & Genomic Medicine
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Background The Solute Carrier Family 19 Member 2 (SLC19A2, OMIM *603941) encodes the thiamine transporter 1 (THTR‐1) that brings thiamine (Vitamin B1) into cells. THTR‐1 is the only thiamine transporter expressed in bone marrow, cochlear, and pancreatic beta cells. THTR‐1 loss‐of‐function leads to the rare recessive genetic disease Thiamine‐Responsive Megaloblastic Anemia (TRMA, OMIM #249270). Methods In vitro stimulated blood lymphocytes were used for cytogenetics and the isolation of genomic DNA used to perform whole exome sequencing (WES). To validate identified mutations, direct Sanger sequencing was performed following PCR amplification. Results A 6‐year‐old male born from a consanguineous couple presenting bone marrow failure and microcephaly was referred to our clinic for disease diagnosis. The patient presented a normal karyotype and no chromosomal fragility in response to DNA damage. WES analysis led to the identification of a new pathogenic variant in the SLC19A2 gene (c.596C>G, pSer199Ter) allowing to identify the young boy as a TRMA patient. Conclusion Our analysis extend the number of inactivating mutations in SLC19A2 leading to TRMA that could guide future prenatal diagnosis for the family and follow‐up for patients.

ACS Style

Khalda Amr; Patrycja Pawlikowska; Said Aoufouchi; Filippo Rosselli; Ghada El‐Kamah. Whole exome sequencing identifies a new mutation in the SLC19A2 gene leading to thiamine‐responsive megaloblastic anemia in an Egyptian family. Molecular Genetics & Genomic Medicine 2019, 7, e00777 .

AMA Style

Khalda Amr, Patrycja Pawlikowska, Said Aoufouchi, Filippo Rosselli, Ghada El‐Kamah. Whole exome sequencing identifies a new mutation in the SLC19A2 gene leading to thiamine‐responsive megaloblastic anemia in an Egyptian family. Molecular Genetics & Genomic Medicine. 2019; 7 (7):e00777.

Chicago/Turabian Style

Khalda Amr; Patrycja Pawlikowska; Said Aoufouchi; Filippo Rosselli; Ghada El‐Kamah. 2019. "Whole exome sequencing identifies a new mutation in the SLC19A2 gene leading to thiamine‐responsive megaloblastic anemia in an Egyptian family." Molecular Genetics & Genomic Medicine 7, no. 7: e00777.

Journal article
Published: 01 September 2017 in Gene
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Lipoid proteinosis (LP) is an autosomal recessive disorder caused by the loss of function of ECM1 gene. Clinical features include varying degrees of skin thickening, hoarseness of voice and less frequently neuropsychiatric abnormalities. Twelve patients from ten unrelated families with a clinical diagnosis of lipoid proteinosis were enrolled in this study. Extraction of DNA samples of the 12 patients and their parents from peripheral blood by standard methods was performed. Polymerase chain reaction (PCR) amplification of the ECM1 gene was conducted using eight pairs of primers spanning over the 10 exons and splice junctions. Patients exhibited a variety of clinical manifestations with skin affection and hoarseness of voice being the consistent feature. We identified five novel homozygous insertion, small deletion, missense, and splice site mutations as well as two homozygous previously published splice site mutation c.70+1G>C in intron 1 and c.1305-2A>G in intron 8. The specific mutations were: c.10_11insC in exon 1, c.690_691delAG in exon 6, c.734G>A in exon 7, c.1286_1287delAA in exon 8 and c.1393-1G>T in intron 9. The novel mutations c.1393-1G>T and c.10_11insC occurred in three (30%) and two (20%) unrelated patients of the studied families, respectively. Further studies may designate an increased frequency of these mutations among Egyptian LP patients. Identification of pathogenic ECM1 mutations is important for accurate diagnosis and proper genetic counseling.

ACS Style

Hanan H. Afifi; Khalda S. Amr; Angie M.S. Tosson; Tarak A. Hassan; Mennat I. Mehrez; Ghada Y. El-Kamah. Lipoid proteinosis: A clinical and molecular study in Egyptian patients. Gene 2017, 628, 308 -314.

AMA Style

Hanan H. Afifi, Khalda S. Amr, Angie M.S. Tosson, Tarak A. Hassan, Mennat I. Mehrez, Ghada Y. El-Kamah. Lipoid proteinosis: A clinical and molecular study in Egyptian patients. Gene. 2017; 628 ():308-314.

Chicago/Turabian Style

Hanan H. Afifi; Khalda S. Amr; Angie M.S. Tosson; Tarak A. Hassan; Mennat I. Mehrez; Ghada Y. El-Kamah. 2017. "Lipoid proteinosis: A clinical and molecular study in Egyptian patients." Gene 628, no. : 308-314.

Book chapter
Published: 11 November 2015 in Inherited Hemoglobin Disorders
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Thalassemia — From Genotype to Phenotype | InTechOpen, Published on: 2015-11-11. Authors: Ghada Y. El-Kamah and Khalda S. Amr

ACS Style

Ghada Y. El-Kamah; Ghada Y Elkamah And Khalda S Amr. Thalassemia — From Genotype to Phenotype. Inherited Hemoglobin Disorders 2015, 1 .

AMA Style

Ghada Y. El-Kamah, Ghada Y Elkamah And Khalda S Amr. Thalassemia — From Genotype to Phenotype. Inherited Hemoglobin Disorders. 2015; ():1.

Chicago/Turabian Style

Ghada Y. El-Kamah; Ghada Y Elkamah And Khalda S Amr. 2015. "Thalassemia — From Genotype to Phenotype." Inherited Hemoglobin Disorders , no. : 1.

Journal article
Published: 01 January 2015 in Middle East Journal of Medical Genetics
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Maha M. Eid; Ibrahim Y. Abdel-Messih; Ghada Y. El-Kamah; Hanan M. Mahmoud; Marwa I. Shihab; Nermeen H. El-Azhary. Cytogenetics evaluation of the effect of cord blood versus adult red blood cells on chromosomal breakage in Fanconi anemia. Middle East Journal of Medical Genetics 2015, 4, 13 -17.

AMA Style

Maha M. Eid, Ibrahim Y. Abdel-Messih, Ghada Y. El-Kamah, Hanan M. Mahmoud, Marwa I. Shihab, Nermeen H. El-Azhary. Cytogenetics evaluation of the effect of cord blood versus adult red blood cells on chromosomal breakage in Fanconi anemia. Middle East Journal of Medical Genetics. 2015; 4 (1):13-17.

Chicago/Turabian Style

Maha M. Eid; Ibrahim Y. Abdel-Messih; Ghada Y. El-Kamah; Hanan M. Mahmoud; Marwa I. Shihab; Nermeen H. El-Azhary. 2015. "Cytogenetics evaluation of the effect of cord blood versus adult red blood cells on chromosomal breakage in Fanconi anemia." Middle East Journal of Medical Genetics 4, no. 1: 13-17.

Journal article
Published: 01 January 2014 in Middle East Journal of Medical Genetics
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Ahmed M. Salem; Hala T. El-Bassyouni; Ghada Y. El-Kamah; Waheba A. Zarouk; Maha M. Eid; Rehab M. Mosaad; Ahmed A. Sayed; Samia A. Temtamy. Screening for common mutations in four FANCA gene exons in Egyptian Fanconi anemia patients. Middle East Journal of Medical Genetics 2014, 3, 24 -30.

AMA Style

Ahmed M. Salem, Hala T. El-Bassyouni, Ghada Y. El-Kamah, Waheba A. Zarouk, Maha M. Eid, Rehab M. Mosaad, Ahmed A. Sayed, Samia A. Temtamy. Screening for common mutations in four FANCA gene exons in Egyptian Fanconi anemia patients. Middle East Journal of Medical Genetics. 2014; 3 (1):24-30.

Chicago/Turabian Style

Ahmed M. Salem; Hala T. El-Bassyouni; Ghada Y. El-Kamah; Waheba A. Zarouk; Maha M. Eid; Rehab M. Mosaad; Ahmed A. Sayed; Samia A. Temtamy. 2014. "Screening for common mutations in four FANCA gene exons in Egyptian Fanconi anemia patients." Middle East Journal of Medical Genetics 3, no. 1: 24-30.

Journal article
Published: 01 January 2014 in Gene
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International audienceXeroderma pigmentosum (XP) is a rare autosomal recessive hereditary disease characterized by hyperphotosensitivity, DNA repair defects and a predisposition to skin cancers. The most frequently occurring type worldwide is the XP group A (XPA). There is a close relationship between the clinical features that ranged from severe to mild form and the mutational site in XPA gene. The aim of this study is to carry out the mutational analysis in Egyptian patients with XP-A. This study was carried out on four unrelated Egyptian XP-A families. Clinical features were examined and direct sequencing of the coding region of XPA gene was performed in patients and their parents. Direct sequencing of the whole coding region of the XPA gene revealed the identification of two homozygous nonsense mutations: (c.553C >T; p.(Gln185)) and (c.331G>T; p.(Glu111)), which create premature, stop codon and a homodeletion (c.374delC: p.Thr125Ilefs 15) that leads to frameshift and premature translation termination. We report the identification of one novel XPA gene mutation and two known mutations in four unrelated Egyptian families with Xermoderma pigmentosum. All explored patients presented severe neurological abnormalities and have mutations located in the DNA binding domain. This report gives insight on the mutation spectrum of XP-A in Egypt. This would provide a valuable tool for early diagnosis of this severe disease

ACS Style

Khalda Amr; Olfa Messaoud; Mohamad El Darouti; Sonia Abdelhak; Ghada El-Kamah. Mutational spectrum of Xeroderma pigmentosum group A in Egyptian patients. Gene 2014, 533, 52 -56.

AMA Style

Khalda Amr, Olfa Messaoud, Mohamad El Darouti, Sonia Abdelhak, Ghada El-Kamah. Mutational spectrum of Xeroderma pigmentosum group A in Egyptian patients. Gene. 2014; 533 (1):52-56.

Chicago/Turabian Style

Khalda Amr; Olfa Messaoud; Mohamad El Darouti; Sonia Abdelhak; Ghada El-Kamah. 2014. "Mutational spectrum of Xeroderma pigmentosum group A in Egyptian patients." Gene 533, no. 1: 52-56.

Clinical report
Published: 11 October 2011 in American Journal of Medical Genetics Part A
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The designation microcephalic osteodysplastic primordial dwarfism (MOPD) refers to a group of autosomal recessive disorders, comprising microcephaly, growth retardation, and a skeletal dysplasia. The different types of MOPD have been delineated on the basis of clinical, radiological, and genetic criteria. We describe two brothers, born to healthy, consanguineous parents, with intrauterine and postnatal growth retardation, microcephaly with abnormal gyral pattern and partial agenesis of corpus callosum, and skeletal anomalies reminiscent of those described in MOPD type I. This was confirmed by the identification of the homozygous g.55G > A mutation of RNU4ATAC encoding U4atac snRNA. The sibs had yellowish‐gray hair, fair skin, and deficient retinal pigmentation. Skin biopsy showed abnormal melanin function but OCA genes were normal. The older sib had an intracranial hemorrhage at 1 week after birth, the younger developed chilblains‐like lesions at the age 2½ years old but analysis of the SAMHD1 and TREX1 genes did not show any mutations. To the best of our knowledge, vasculopathy and pigmentary disorders have not been reported in MOPD I.

ACS Style

Ghada Abdel-Salam; Noriko Miyake; Maha Eid; Mohamed S. Abdel-Hamid; Nihal A. Hassan; Ola M. Eid; Laila K. Effat; Tarek EL Badry; Ghada El-Kamah; Mohamed El-Darouti; Naomichi Matsumoto. A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder. American Journal of Medical Genetics Part A 2011, 155, 2885 -2896.

AMA Style

Ghada Abdel-Salam, Noriko Miyake, Maha Eid, Mohamed S. Abdel-Hamid, Nihal A. Hassan, Ola M. Eid, Laila K. Effat, Tarek EL Badry, Ghada El-Kamah, Mohamed El-Darouti, Naomichi Matsumoto. A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder. American Journal of Medical Genetics Part A. 2011; 155 (11):2885-2896.

Chicago/Turabian Style

Ghada Abdel-Salam; Noriko Miyake; Maha Eid; Mohamed S. Abdel-Hamid; Nihal A. Hassan; Ola M. Eid; Laila K. Effat; Tarek EL Badry; Ghada El-Kamah; Mohamed El-Darouti; Naomichi Matsumoto. 2011. "A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder." American Journal of Medical Genetics Part A 155, no. 11: 2885-2896.

Correspondence
Published: 17 March 2010 in British Journal of Dermatology
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Ghada El-Kamah; K. Fong; Mona El Ruby; H. H. Affifi; S. E. Clements; J. E. Lai-Cheong; Khalda Amr; M. El-Darouti; J. A. McGrath. Spectrum of mutations in the ANTXR2 (CMG2 ) gene in infantile systemic hyalinosis and juvenile hyaline fibromatosis. British Journal of Dermatology 2010, 163, 213 -215.

AMA Style

Ghada El-Kamah, K. Fong, Mona El Ruby, H. H. Affifi, S. E. Clements, J. E. Lai-Cheong, Khalda Amr, M. El-Darouti, J. A. McGrath. Spectrum of mutations in the ANTXR2 (CMG2 ) gene in infantile systemic hyalinosis and juvenile hyaline fibromatosis. British Journal of Dermatology. 2010; 163 (1):213-215.

Chicago/Turabian Style

Ghada El-Kamah; K. Fong; Mona El Ruby; H. H. Affifi; S. E. Clements; J. E. Lai-Cheong; Khalda Amr; M. El-Darouti; J. A. McGrath. 2010. "Spectrum of mutations in the ANTXR2 (CMG2 ) gene in infantile systemic hyalinosis and juvenile hyaline fibromatosis." British Journal of Dermatology 163, no. 1: 213-215.

Case reports
Published: 01 February 2010 in Neuropediatrics
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Aicardi-Goutières syndrome (AGS) is a genetically heterogeneous disorder showing variability in age of onset and clinical features. Chilblain lesions have been described in AGS patients and recent papers have discussed the clinical, molecular and cutaneous histopathological overlap with chilblain lupus. Here we report on 2 unrelated children with AGS and chilblain lesions, whose clinical histories and examination findings well illustrate the wide phenotypic variability that can be seen in this pleiotropic disorder. Although both patients show remarkable similarity in the histopathology of their associated skin lesions, with thrombi formation, fat necrosis and hyalinization of the subcutaneous tissue, we note that the histopathology reported in other AGS cases with chilblains does not necessarily demonstrate this same uniformity. Our findings highlight the significant role of the characteristic chilblain skin lesions in the diagnosis of AGS, and variability in the associated histopathology which may relate to the stage and severity of the disease.

ACS Style

Ghada Abdel-Salam; Ghada El-Kamah; Gillian Rice; M. El-Darouti; H. Gornall; M. Szynkiewicz; F. Aymard; M. S. Zaki; Alice Abdel Aleem; P. Lebon; Yanick Crow. Chilblains as a Diagnostic Sign of Aicardi-Goutières Syndrome. Neuropediatrics 2010, 41, 18 -23.

AMA Style

Ghada Abdel-Salam, Ghada El-Kamah, Gillian Rice, M. El-Darouti, H. Gornall, M. Szynkiewicz, F. Aymard, M. S. Zaki, Alice Abdel Aleem, P. Lebon, Yanick Crow. Chilblains as a Diagnostic Sign of Aicardi-Goutières Syndrome. Neuropediatrics. 2010; 41 (1):18-23.

Chicago/Turabian Style

Ghada Abdel-Salam; Ghada El-Kamah; Gillian Rice; M. El-Darouti; H. Gornall; M. Szynkiewicz; F. Aymard; M. S. Zaki; Alice Abdel Aleem; P. Lebon; Yanick Crow. 2010. "Chilblains as a Diagnostic Sign of Aicardi-Goutières Syndrome." Neuropediatrics 41, no. 1: 18-23.

Case reports
Published: 01 July 2009 in Pediatric Dermatology
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Ligneous conjunctivitis (MIM 217090) is a rare autosomal recessive hereditary disorder. We report a case with both ligneous conjunctivitis and ligneous periodontitis in association with plasminogen type I deficiency. Diagnosis was based on the clinical and histological findings and most importantly, decreased serum level of plasminogen type I.

ACS Style

Mohamed El‐Darouti; Amira A. Zayed; Ghada Y. El‐Kamah; Mostafa I. Mostafa. Ligneous Conjunctivitis with Oral Mucous Membrane Involvement and Decreased Plasminogen Level. Pediatric Dermatology 2009, 26, 448 -451.

AMA Style

Mohamed El‐Darouti, Amira A. Zayed, Ghada Y. El‐Kamah, Mostafa I. Mostafa. Ligneous Conjunctivitis with Oral Mucous Membrane Involvement and Decreased Plasminogen Level. Pediatric Dermatology. 2009; 26 (4):448-451.

Chicago/Turabian Style

Mohamed El‐Darouti; Amira A. Zayed; Ghada Y. El‐Kamah; Mostafa I. Mostafa. 2009. "Ligneous Conjunctivitis with Oral Mucous Membrane Involvement and Decreased Plasminogen Level." Pediatric Dermatology 26, no. 4: 448-451.

Case reports
Published: 15 May 2009 in Dermatology Online Journal
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Ghada Y El-Kamah; Mostafa I Mostafa. Heterogeneity and atypical presentation in infantile systemic hyalinosis with severe labio-gingival enlargement: first Egyptian report. Dermatology Online Journal 2009, 15, 1 .

AMA Style

Ghada Y El-Kamah, Mostafa I Mostafa. Heterogeneity and atypical presentation in infantile systemic hyalinosis with severe labio-gingival enlargement: first Egyptian report. Dermatology Online Journal. 2009; 15 (5):1.

Chicago/Turabian Style

Ghada Y El-Kamah; Mostafa I Mostafa. 2009. "Heterogeneity and atypical presentation in infantile systemic hyalinosis with severe labio-gingival enlargement: first Egyptian report." Dermatology Online Journal 15, no. 5: 1.

Comparative study
Published: 01 January 2007 in Clinical Laboratory
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Khaled R Gaber; Mona K Farag; Somaya E T Soliman; Hala Bassyouni; Ghada El-Kamah. Maternal vitamin B12 and the risk of fetal neural tube defects in Egyptian patients. Clinical Laboratory 2007, 53, 1 .

AMA Style

Khaled R Gaber, Mona K Farag, Somaya E T Soliman, Hala Bassyouni, Ghada El-Kamah. Maternal vitamin B12 and the risk of fetal neural tube defects in Egyptian patients. Clinical Laboratory. 2007; 53 (1):1.

Chicago/Turabian Style

Khaled R Gaber; Mona K Farag; Somaya E T Soliman; Hala Bassyouni; Ghada El-Kamah. 2007. "Maternal vitamin B12 and the risk of fetal neural tube defects in Egyptian patients." Clinical Laboratory 53, no. 1: 1.