Harlequin Ichthyosis - Medical and Psychosocial Challenges

被引：5

作者：

Eilers, E. ^{[1
]}

Stieler, K. ^{[2
]}

Thies, C. ^{[3
]}

Blume-Peytavi, U. ^{[2
]}

Obladen, M. ^{[1
]}

Hueseman, D. ^{[1
]}

机构：

[1] Charite, Klin Neonatol, D-13353 Berlin, Germany

[2] Charite, Dermatol Klin, D-13353 Berlin, Germany

[3] Waldkrankenhaus Spandau, Kinderklin, Berlin, Germany

来源：

KLINISCHE PADIATRIE | 2010年 / 222卷 / 02期

关键词：

harlequin ichthyosis; compartment syndrome; ichthyosis congenita gravis; neonate; skin disease; ABCA12; MUTATIONS; THERAPY;

D O I：

10.1055/s-0029-1220943

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Harlequin ichthyosis is the most severe congenital keratinizing disorder. It is caused by mutations in the ABCA12 gene leading to defective lipid transport. The infants are born with ectropion, eclabium and fissured plate-like skin. Today these infants can survive with neonatal intensive care and retinoid therapy and need long-term interdisciplinary treatment in order to improve quality of life. How ever, the outcome in our case is impaired by severe psychomotor developmental delay, which has not yet been associated with Harlequin Ichthyosis.

引用

页码：86 / 89

页数：4

共 50 条

[1] Harlequin ichthyosis: The third babies with harlequin ichthyosis in a family
Tekin, Mehmet
Konca, Capan
Kahramaner, Zelal
Erdemir, Aydin
TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS, 2014, 49 (03): : 269 - 271
[2] Harlequin ichthyosis
Patel, Devika
Jahnke, Marla
Shwayder, Tor
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 2015, 72 (05) : AB200 - AB200
[3] Harlequin ichthyosis
Olmos Jimenez, M. J.
Gonzalez Fernandez, A.
Valverde-Molina, J.
Diez Lorenzo, M. P.
ANALES DE PEDIATRIA, 2014, 80 (04): : 263 - 263
[4] Harlequin ichthyosis
Mukhopadhyay S.
Agarwal R.
The Indian Journal of Pediatrics, 2006, 73 (4) : 351 - 351
[5] Harlequin ichthyosis: a survivor
Al-Niaimi, F.
Judge, M.
BRITISH JOURNAL OF DERMATOLOGY, 2010, 162 (05) : 1167 - 1167
[6] ON THE INHERITANCE OF HARLEQUIN ICHTHYOSIS
BOTTANI, A
PRENATAL DIAGNOSIS, 1994, 14 (11) : 1099 - 1099
[7] Epidemiology, medical genetics, diagnosis and treatment of harlequin ichthyosis in Japan
Shibata, Akitaka
Akiyama, Masashi
PEDIATRICS INTERNATIONAL, 2015, 57 (04) : 516 - 522
[8] A Review of Harlequin Ichthyosis
Layton, Lt. Jason
NEONATAL NETWORK, 2005, 24 (03): : 17 - 23
[9] Harlequin Ichthyosis: A Rare Case of Congenital Ichthyosis
Kataria, Sonia
Ajmani, Sangita Nangia
JOURNAL OF OBSTETRICS AND GYNECOLOGY OF INDIA, 2019, 69 (03): : 292 - 293
[10] Harlequin Ichthyosis: A Rare Case of Congenital Ichthyosis
Sonia Kataria
Sangita Nangia Ajmani
The Journal of Obstetrics and Gynecology of India, 2019, 69 : 292 - 293

← 1 2 3 4 5 →