A Case of IFAP Syndrome with Severe Atopic Dermatitis
Joint Authors
Araújo, Catarina
Gonçalves-Rocha, Miguel
Resende, Cristina
Vieira, Ana Paula
Brito, Celeste
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-01-21
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
Introduction.
The IFAP syndrome is a rare X-linked genetic disorder characterized by the triad of follicular ichthyosis, atrichia, and photophobia.
Case Report.
A three-month-old Caucasian, male patient was observed with noncicatricial universal alopecia and persistent eczema from birth.
He had dystrophic nails, spiky follicular hyperkeratosis, and photophobia which became apparent at the first year of life.
Short stature and psychomotor developmental delay were also noticed.
Histopathological examination of skin biopsy on left thigh showed epidermis with irregular acanthosis, lamellar orthokeratotic hyperkeratosis, and hair follicles fulfilled by parakeratotic hyperkeratosis.
The chromosomal study showed a karyotype 46, XY.
Total IgE was 374 IU/mL.
One missense mutation c.1360G>C (p.Ala454Pro) in hemizygosity was detected on the MBTPS2 gene thus confirming the diagnosis of IFAP syndrome.
Conclusions.
We describe a boy with a typical clinical presentation of IFAP syndrome and severe atopic manifestations.
A novel missense mutation c.1360G>C (p.Ala454Pro) in MBTPS2 gene was observed.
The phenotypic expression of disease is quantitatively related to a reduced function of a key cellular regulatory system affecting cholesterol and endoplasmic reticulum homeostasis.
It can cause epithelial disturbance with failure in differentiation of epidermal structures and abnormal skin permeability barrier.
However, no correlation phenotype/genotype could be established.
American Psychological Association (APA)
Araújo, Catarina& Gonçalves-Rocha, Miguel& Resende, Cristina& Vieira, Ana Paula& Brito, Celeste. 2015. A Case of IFAP Syndrome with Severe Atopic Dermatitis. Case Reports in Medicine،Vol. 2015, no. 2015, pp.1-4.
https://search.emarefa.net/detail/BIM-1058847
Modern Language Association (MLA)
Araújo, Catarina…[et al.]. A Case of IFAP Syndrome with Severe Atopic Dermatitis. Case Reports in Medicine No. 2015 (2015), pp.1-4.
https://search.emarefa.net/detail/BIM-1058847
American Medical Association (AMA)
Araújo, Catarina& Gonçalves-Rocha, Miguel& Resende, Cristina& Vieira, Ana Paula& Brito, Celeste. A Case of IFAP Syndrome with Severe Atopic Dermatitis. Case Reports in Medicine. 2015. Vol. 2015, no. 2015, pp.1-4.
https://search.emarefa.net/detail/BIM-1058847
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1058847