IS c.1431-12G>A A COMMON EUROPEAN MUTATION OF SPINK5? REPORT OF A PATIENT WITH NETHERTON SYNDROME
Śmigiel R, Królak-Olejnik B, Śniegórska D, Rozensztrauch A, Szafrańska A, Sasiadek MM, Wertheim-Tysarowska K
*Corresponding Author: Robert Śmigiel, M.D., Ph.D., Department of Pediatrics, Wroclaw Medical University, Bartla 5, PL 51-618 Wroclaw, Poland. Tel: +48-71-784-13-26. Fax: +48-71-784-00-63. E-mail: robert.smigiel@ umed.wroc.pl
page: 81

CASE REPORT

A boy [weight 2750 g, length 49 cm, occipital-frontal circumference (OFC) 30 cm] was born prematurely at the 37th week of gestation to a 43-year-old mother by cesarean section due to the transverse position. A skin examination of the proband, conducted shortly after birth, revealed generalized erythroderma covered by fine, translucent scales all over the body and scalp (Figure 1). The eyebrows and eyelashes were thin and sparse, nails with normal conformation and shape. Moreover, hypotonia was observed. An ultrasonography examination did not detect any defect of the internal organs. Starting from birth, the infant has had ongoing problems with hypernatremic dehydration. Soon after birth, the skin infections caused by Staphylococcus aureus and Pseudomonas aeruginosa were diagnosed. The boy then developed symptoms of sepsis [maximum C-reactive protein (CRP) levels of >400 mg/L] and meningitis was diagnosed. The baby developed respiratory failure that was treated with mechanical ventilation. Chronic diarrhea as an enteropathy symptom was revealed. Moreover, in the course of general infection intensifying skin lesions were observed. The immunological examination showed a decreased concentration of IgG (4.59 g/L) and C3 (0.76 g/L) components. The levels of IgG and C3 were taken 3 weeks after birth, which was 1 week prior to sepsis. Tricuspid and pulmonary valve insufficiency was identified in the echocardiography and the abnormalities of intraventricular repolarization and conduction were present on the electrocardiogram (ECG). At the age of 7 months, the child was diagnosed with bilateral hypoacusia. The boy was admitted to the Department of Genetics, Wroclaw Medical University, Wroclaw, Poland with the suspicion of NS at the age of 8 months. The physical examination showed facial dysmorphic features resulting from ichthyosis, sparse hair with abnormal hair shafts and alopecia (Figures 2 and 3). His psychomotor development was delayed. Completing the medical history, the childís mother revealed the absence of hair on the scalp, the absence of eyebrows and eyelashes as well as axillary and pubic hair from her early childhood. After the childís delivery, motherís skin was clean, smooth, and no keratinizing change was observed. Written informed consent was obtained from the patient for publication of this case study and any accompanying images.



Number 19
VOL. 19 (2), 2016
Number 19
VOL. 19 (1), 2016
Number 18
VOL. 18 (2), 2015
Number 18
VOL. 18 (1), 2015
Number 17
VOL. 17 (2), 2014
Number 17
VOL. 17 (1), 2014
Number 16
VOL. 16 (2), 2013
Number 16
VOL. 16 (1), 2013
Number 15
VOL. 15 (2), 2012
Number 15
VOL. 15, 2012 Supplement
Number 15
Vol. 15 (1), 2012
Number 14
14 - Vol. 14 (2), 2011
Number 14
The 9th Balkan Congress of Medical Genetics
Number 14
14 - Vol. 14 (1), 2011
Number 13
Vol. 13 (2), 2010
Number 13
Vol.13 (1), 2010
Number 12
Vol.12 (2), 2009
Number 12
Vol.12 (1), 2009
Number 11
Vol.11 (2),2008
Number 11
Vol.11 (1),2008
Number 10
Vol.10 (2), 2007
Number 10
10 (1),2007
Number 9
1&2, 2006
Number 9
3&4, 2006
Number 8
1&2, 2005
Number 8
3&4, 2004
Number 7
1&2, 2004
Number 6
3&4, 2003
Number 6
1&2, 2003
Number 5
3&4, 2002
Number 5
1&2, 2002
Number 4
Vol.3 (4), 2000
Number 4
Vol.2 (4), 1999
Number 4
Vol.1 (4), 1998
Number 4
3&4, 2001
Number 4
1&2, 2001
Number 3
Vol.3 (3), 2000
Number 3
Vol.2 (3), 1999
Number 3
Vol.1 (3), 1998
Number 2
Vol.3(2), 2000
Number 2
Vol.1 (2), 1998
Number 2
Vol.2 (2), 1999
Number 1
Vol.3 (1), 2000
Number 1
Vol.2 (1), 1999
Number 1
Vol.1 (1), 1998

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006