alexa The Sterol-C4-methyl Oxidase Deficiency In Cholesterol Biosynthesis And The Juvenile Psoriasis Form Dermatitis: A New Case In A Teenager Italian Male | 61365
ISSN: 2155-9554

Journal of Clinical & Experimental Dermatology Research
Open Access

Like us on:

OMICS International organises 3000+ Global Conferenceseries Events every year across USA, Europe & Asia with support from 1000 more scientific Societies and Publishes 700+ Open Access Journals which contains over 50000 eminent personalities, reputed scientists as editorial board members.

Open Access Journals gaining more Readers and Citations
700 Journals and 15,000,000 Readers Each Journal is getting 25,000+ Readers

This Readership is 10 times more when compared to other Subscription Journals (Source: Google Analytics)

9th World Dermatology & Pediatric Dermatology Congress

Gaetano Corso, M Gelzo, M P Lenza, C Sica, E Procopio, M A Donati, A Dello Russo, G Frisso and F Salvatore
Università degli Studi di Foggia, Italy
University of Naples Federico II, Italy
Ceinge Biotecnologie Avanzate, Italy
Università degli Studi di Foggia, Italy
University of Naples Federico II, Italy
Ceinge Biotecnologie Avanzate, Italy
Posters & Accepted Abstracts: J Clin Exp Dermatol Res
DOI: 10.4172/2155-9554.C1.042
Abstract
Inborn defects of cholesterol biosynthesis are metabolic disorders presenting with multi-organ and tissues anomalies. Recently, a new autosomal recessive defect in four patients involving the demethylating enzyme C4-methylsterols (SC4MOL) has been described. In infancy, all showed microcephaly, congenital cataracts, growth delay, psoriasiform dermatitis, immune dysfunction and intellectual disability. Herein, we describe a new case of SC4MOL deficiency, showing bilateral congenital cataracts, psychomotor and development delay and learning disabilities in the early life. At 15 years, he showed small stature and behavioral disorder. His skin never demonstrated a marked psoriasiform rash, but only abundant dandruff of scalp. Despite numerous biochemical and genetic examinations, the diagnosis was missed until 19 years. Based on clinical evidences, such as congenital cataracts, microcephaly and developmental delay, a cholesterol biosynthesis defect was suspected. Blood C4-monomethyl- and C4-dimethylsterols levels were significantly higher than controls, suggesting a true deficiency of SC4MOL. SC4MOL gene sequencing showed mutations in both alleles (1st variant: c.731A>G, p.Y244C, already known; 2nd one: c.605G>A, p.G202E, new variant). Both mutations are absent in both EXAC database and healthy controls. His parents are found heterozygous. Finally, integrating clinical, metabolic, and genetic tests, we diagnosed the SC4MOL deficiency definitively. Notably, the interactions of multi-field skills are fruitful to diagnose a new defect of cholesterol biosynthesis. Therefore, we suggest that plasma sterol profile should be taken early into account for all undiagnosed patients showing clinical signs overlapping that of patient presented here.
Biography

Email: [email protected]

image PDF   |   image HTML
 

Relevant Topics

Peer Reviewed Journals
 
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2018-19
 
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

Agri & Aquaculture Journals

Dr. Krish

[email protected]

+1-702-714-7001Extn: 9040

Biochemistry Journals

Datta A

[email protected]

1-702-714-7001Extn: 9037

Business & Management Journals

Ronald

[email protected]

1-702-714-7001Extn: 9042

Chemistry Journals

Gabriel Shaw

[email protected]

1-702-714-7001Extn: 9040

Clinical Journals

Datta A

[email protected]

1-702-714-7001Extn: 9037

Engineering Journals

James Franklin

[email protected]

1-702-714-7001Extn: 9042

Food & Nutrition Journals

Katie Wilson

[email protected]

1-702-714-7001Extn: 9042

General Science

Andrea Jason

[email protected]

1-702-714-7001Extn: 9043

Genetics & Molecular Biology Journals

Anna Melissa

[email protected]

1-702-714-7001Extn: 9006

Immunology & Microbiology Journals

David Gorantl

[email protected]

1-702-714-7001Extn: 9014

Materials Science Journals

Rachle Green

[email protected]

1-702-714-7001Extn: 9039

Nursing & Health Care Journals

Stephanie Skinner

[email protected]

1-702-714-7001Extn: 9039

Medical Journals

Nimmi Anna

[email protected]

1-702-714-7001Extn: 9038

Neuroscience & Psychology Journals

Nathan T

[email protected]

1-702-714-7001Extn: 9041

Pharmaceutical Sciences Journals

Ann Jose

[email protected]

1-702-714-7001Extn: 9007

Social & Political Science Journals

Steve Harry

[email protected]

1-702-714-7001Extn: 9042

 
© 2008- 2018 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version
Leave Your Message 24x7