Balkan Journal of Medical Genetics

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 child’s 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 child’s delivery, mother’s 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 27 VOL. 27 (2), 2024	Number 27 VOL. 27 (1), 2024
Number 26 Number 26 VOL. 26(2), 2023 All in one	Number 26 VOL. 26(2), 2023
Number 26 VOL. 26, 2023 Supplement	Number 26 VOL. 26(1), 2023
Number 25 VOL. 25(2), 2022	Number 25 VOL. 25 (1), 2022
Number 24 VOL. 24(2), 2021	Number 24 VOL. 24(1), 2021
Number 23 VOL. 23(2), 2020	Number 22 VOL. 22(2), 2019
Number 22 VOL. 22(1), 2019	Number 22 VOL. 22, 2019 Supplement
Number 21 VOL. 21(2), 2018	Number 21 VOL. 21 (1), 2018
Number 21 VOL. 21, 2018 Supplement	Number 20 VOL. 20 (2), 2017
Number 20 VOL. 20 (1), 2017	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