scholarly journals Christ-Siemens-Touraine Syndrome: A Case Report and Review of the Literature

2012 ◽  
Vol 2012 ◽  
pp. 1-3 ◽  
Author(s):  
Sepideh Mokhtari ◽  
Saeedeh Mokhtari ◽  
Ali Lotfi
Keyword(s):  
Case Report ◽  
Ectodermal Dysplasia ◽  
Classical Case ◽  
Common Type ◽  
Rare Disorder ◽  
Review Of The Literature ◽  
Sebaceous Glands ◽  
Dental Abnormalities ◽  
Anhidrotic Ectodermal Dysplasia

Ectodermal dysplasia is a rare disorder with defects in two or more of the following structures: the teeth and the skin and its appendages including hair, nails, eccrine, and sebaceous glands. Anhidrotic ectodermal dysplasia is the most common type of disease. This rare disorder, also known as Christ-Siemens-Touraine syndrome, manifests as a triad of hypotrichosis, asteatosis, and anhidrosis. In view of the rarity of this entity, a classical case of anhidrotic ectodermal dysplasia is reported. We have also provided a review of recent investigations in the area of dental abnormalities in this syndrome.

scholarly journals EDA mutation as a cause of hypohidrotic ectodermal dysplasia: a case report and review of the literature

2015 ◽  
Vol 14 (3) ◽  
pp. 10344-10351 ◽  
Author(s):  
S.X. Huang ◽  
J.L. Liang ◽  
W.G. Sui ◽  
H. Lin ◽  
W. Xue ◽  
...  
Keyword(s):  
Case Report ◽  
Ectodermal Dysplasia ◽  
Review Of The Literature ◽  
Hypohidrotic Ectodermal Dysplasia

scholarly journals An infant with X‐linked anhidrotic ectodermal dysplasia with immunodeficiency presenting with Pneumocystis pneumonia: A case report

2021 ◽  
Vol 9 (11) ◽  
Author(s):  
Miwako Toyohara ◽  
Yuko Kajiho ◽  
Etsushi Toyofuku ◽  
Chie Takahashi ◽  
Keiho Owada ◽  
...  
Keyword(s):  
Case Report ◽  
Ectodermal Dysplasia ◽  
Pneumocystis Pneumonia ◽  
Anhidrotic Ectodermal Dysplasia

scholarly journals Ectodermal Dysplasia presenting with Atrophic Rhinitis: A Report of Two Cases and a Review of the Literature

2016 ◽  
Vol 9 (1) ◽  
pp. 53-55
Author(s):  
Sampurna Pati ◽  
Sudipta Pal ◽  
Surajit Biswas ◽  
Somnath Saha
Keyword(s):  
Case Report ◽  
Conservative Therapy ◽  
Ectodermal Dysplasia ◽  
Tertiary Care ◽  
Atrophic Rhinitis ◽  
Mucosal Biopsy ◽  
Review Of The Literature ◽  
History Of ◽  
Conventional Manner ◽  
Nose And Throat

ABSTRACT Aims To present two rare cases of ectodermal dysplasia presenting with maggot infestation due to atrophic rhinitis. Study design Case report. Setting A tertiary care referral hospital. Presentation Two male children aged about 5 and 8 years presented to the ear, nose, and throat emergency with a history of maggot infestation of the nose. Results Clinical examination was suggestive of ectodermal dysplasia. Intranasal examination was suggestive of atrophic rhinitis. Maggots were removed in the conventional manner. Following a conservative treatment, skin biopsy and nasal mucosal biopsy were done, which confirmed the diagnosis of ectodermal dysplasia. Conclusion Any ectodermal dysplasia patient should be suspected of having atrophic rhinitis and intranasal conservative therapy should be initiated at the earliest to prevent complications like maggots in the nose. How to cite this article Pati S, Pal S, Saha S, Biswas S. Ectodermal Dysplasia presenting with Atrophic Rhinitis: A Report of Two Cases and a Review of the Literature. Clin Rhinol An Int J 2016;9(1):53-55.

Ectrodactyly-ectodermal dysplasia-clefting syndrome

2000 ◽  
Vol 90 (9) ◽  
pp. 460-464 ◽  
Author(s):  
GJ Kelman ◽  
RC Aronoff
Keyword(s):  
Congenital Anomaly ◽  
Case Report ◽  
Female Patient ◽  
Surgical Management ◽  
Ectodermal Dysplasia ◽  
Review Of The Literature ◽  
Rare Congenital Anomaly ◽  
Rare Syndrome ◽  
Clinical Triad ◽  
Musculoskeletal Involvement

Ectrodactyly-ectodermal dysplasia-clefting syndrome is a rare congenital anomaly that affects tissues of mesodermal and ectodermal origin. Musculoskeletal involvement frequently requires orthopedic intervention. The authors present a review of the literature pertaining to this rare syndrome as well as a case report of a female patient who exhibited the complete clinical triad. A description of the surgical management of her condition is also presented.

scholarly journals CASE REPORT OF ANHIDROTIC ECTODERMAL DYSPLASIA (CHRIST - SEIMENS - TOURAINE SYNDROME)

2013 ◽  
Vol 2 (49) ◽  
pp. 9441-9443
Author(s):  
Gopal M.G ◽  
Sreedevi Chandrika M ◽  
Sharath Kumar B.C ◽  
Ramesh M ◽  
Nandini A.S
Keyword(s):  
Case Report ◽  
Ectodermal Dysplasia ◽  
Anhidrotic Ectodermal Dysplasia

scholarly journals Surgical resection of an infectious pulmonary cyst in a patient with anhidrotic ectodermal dysplasia: A case report

2020 ◽  
Vol 34 (4) ◽  
pp. 275-280
Author(s):  
Raito Maruyama ◽  
Keigo Matsushima ◽  
Masashi Mikubo ◽  
Yoshio Matsui ◽  
Kazu Shiomi ◽  
...  
Keyword(s):  
Case Report ◽  
Surgical Resection ◽  
Ectodermal Dysplasia ◽  
Anhidrotic Ectodermal Dysplasia ◽  
Pulmonary Cyst
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