0
We're unable to sign you in at this time. Please try again in a few minutes.
Retry
We were able to sign you in, but your subscription(s) could not be found. Please try again in a few minutes.
Retry
There may be a problem with your account. Please contact the AMA Service Center to resolve this issue.
Contact the AMA Service Center:
Telephone: 1 (800) 262-2350 or 1 (312) 670-7827  *   Email: subscriptions@jamanetwork.com
Error Message ......
Observation |

Ichthyosis Prematurity Syndrome From Fetus to Adulthood

Su M. Lwin, MRCP, MBBS, BSc (Hons)1; Chao-Kai Hsu, MD1; James R. McMillan, PhD2; Jemima E. Mellerio, MD, FRCP, MBBS, BSc (Hons)1; John A. McGrath, MD, FRCP, FMedSci1
[+] Author Affiliations
1St John’s Institute of Dermatology, King’s College London, Guy’s Campus, London, England
2Viapath, St Thomas’ Hospital, London, England
JAMA Dermatol. 2016;152(9):1055-1058. doi:10.1001/jamadermatol.2016.1187.
Text Size: A A A
Published online

Extract

This case report describes the clinical and genetic characteristics of a patient with ichthyosis prematurity syndrome.

Ichthyosis prematurity syndrome (IPS) is a rare form of autosomal recessive congenital ichthyosis caused by mutations in SLC27A4 (OMIM: 604194) encoding fatty acid transport protein 4 (FATP4) that affect keratinocyte differentiation and skin barrier formation. It is characterized by prematurity, thick caseous desquamating epidermis, and perinatal respiratory asphyxia. Despite its well-described clinical features and major perinatal mortality risk, IPS is still rarely recognized, and only a few cases have been reported.

Figures in this Article

Sign in

Purchase Options

• Buy this article
• Subscribe to the journal
• Rent this article ?

First Page Preview

View Large
First page PDF preview

Figures

Place holder to copy figure label and caption
Figure 1.
Diagnosis of Ichthyosis Prematurity Syndrome (IPS) in Proband as a 22-Week-Old Fetus and Molecular Features of Proband’s IPS at Age 21 Years

A, Amniotic fluid contains numerous abnormal corneocytes and debris (Richardson stain, scale bar = 25 μm). B, Fetal skin biopsy from the chest wall reveals hyperkeratosis and acanthosis with follicular plugging (Richardson stain, scale bar = 50 µm). C, Transmission electron microscopy (TEM) of fetal skin shows perinuclear swelling in several keratinocytes (black arrows; scale bar = 10 µm); D and E, Higher magnification TEM images reveal lipid profiles with curved trilamellar lamellae in the stratum corneum (white arrows; scale bar = 0.5 µm). F and G, in adult skin, immunofluorescence staining for FATP4 (fatty acid transport protein 4) shows barely detectable labeling in the proband (F; sampled from right axilla at age 21 years) compared with bright staining within the upper epidermis in normal control adult skin (G) (scale bars = 25 µm).

Graphic Jump Location
Place holder to copy figure label and caption
Figure 2.
Clinical Photographs, Pedigree, and Mutation Analysis of the Proband With Ichthyosis Prematurity Syndrome

A, At age 8 weeks, there is thick hyperkeratotic desquamating epidermis affecting the scalp and eyebrows. B, At age 5 years, there is hyperkeratotic cobblestoned skin with mild hyperpigmentation on the back of the neck. C, At age 21 years, there is generalized nonerythrodermic ichthyosis affecting the body and limbs with flexural hyperpigmented follicular hyperkeratosis; D, Sanger sequencing of SLC27A4 reveals 2 recessive heterozygous mutations: (1) a single-nucleotide transition, c.899A>G, in exon 7 resulting in an amino acid substitution, p.Gln300Arg; and (2) a single-nucleotide transition, c.1336C>T, in exon 10 leading to a premature termination codon, p.Gln466*. E, The family pedigree in keeping with autosomal recessive inheritance (proband is indicated with an arrow; affected siblings, black symbols; black square with slash, older brother who died of ichthyosis prematurity syndrome).

Graphic Jump Location

Tables

References

Correspondence

CME
Also Meets CME requirements for:
Browse CME for all U.S. States
Accreditation Information
The American Medical Association is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education for physicians. The AMA designates this journal-based CME activity for a maximum of 1 AMA PRA Category 1 CreditTM per course. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Physicians who complete the CME course and score at least 80% correct on the quiz are eligible for AMA PRA Category 1 CreditTM.
Note: You must get at least of the answers correct to pass this quiz.
Please click the checkbox indicating that you have read the full article in order to submit your answers.
Your answers have been saved for later.
You have not filled in all the answers to complete this quiz
The following questions were not answered:
Sorry, you have unsuccessfully completed this CME quiz with a score of
The following questions were not answered correctly:
Commitment to Change (optional):
Indicate what change(s) you will implement in your practice, if any, based on this CME course.
Your quiz results:
The filled radio buttons indicate your responses. The preferred responses are highlighted
For CME Course: A Proposed Model for Initial Assessment and Management of Acute Heart Failure Syndromes
Indicate what changes(s) you will implement in your practice, if any, based on this CME course.

Multimedia

Some tools below are only available to our subscribers or users with an online account.

206 Views
0 Citations
×

Sign in

Purchase Options

• Buy this article
• Subscribe to the journal
• Rent this article ?

Related Content

Customize your page view by dragging & repositioning the boxes below.

Articles Related By Topic
Related Collections
PubMed Articles
Jobs
brightcove.createExperiences();