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Artykuły w czasopismach na temat „Harlequin Fetus”

Autor: Grafiati

Data publikacji: 3 czerwca 2025

Data aktualizacji: 31 lipca 2025

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1

Shuja, Muhammad, Ahmed Abanamy, A. K. M. Harunur Rashid, and Devabrata Roy. "Harlequin Fetus." Annals of Saudi Medicine 11, no. 6 (1991): 720–21. http://dx.doi.org/10.5144/0256-4947.1991.720.

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Laranjeira, José R. F., Jefferson L. S. Macedo, Jean N. L. Costa, Maria de Fátima D. C. Marques, and Maria Áurea M. Valença. "Harlequin fetus." Jornal de Pediatria 72, no. 3 (1996): 184–86. http://dx.doi.org/10.2223/jped.615.

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3

BELIKOV, A. N., V. I. ALBANOVA, L. F. KOMLEVA, and V. A. GOLCHENKO. "Harlequin ichtyosis (harlequin fetus): case description." Vestnik dermatologii i venerologii 88, no. 3 (2012): 80–85. http://dx.doi.org/10.25208/vdv690.

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Harlequin ichtyosis was observed at a girl, who managed to survive till 4 months age. Results of postmortem examination were presented. Diagnostic criteria were described, issues of prenatal diagnostics and treatment opportunities are being discussed.

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4

Charles, A., R. Moulinasse, and L. Versailles. "Harlequin fetus and micromelia." Prenatal Diagnosis 9, no. 10 (1989): 709–13. http://dx.doi.org/10.1002/pd.1970091006.

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5

Rusdidjas, Rusdidjas, Helena Siregar, and Sjarikat Tarigan. "Ichthyosis Fetalis." Paediatrica Indonesiana 18, no. 5-6 (2017): 164. http://dx.doi.org/10.14238/pi18.5-6.1978.164-72.

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A severe variety of ichthyosis fetalis or Harlequin fetus is reported with a brief review of the literature. It seemed that our case, Tadjuddin's (Jakarta), and Wong Hock Boon's (Singapore) assure us that the Harlequin fetus can also be seen in the tropics and in all traces where the ichthyosis gene is present.

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6

Lawlor, Frances. "Progress of a Harlequin Fetus to Nonbullous Ichthyosiform Erythroderma." Pediatrics 82, no. 6 (1988): 870–73. http://dx.doi.org/10.1542/peds.82.6.870.

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The term harlequin fetus is used to describe the most severe form of congenital ichthyosis. All except one previously reported patient died during the first few weeks of life. The development of one such fetus to the age of 2 years 6 months is reported, along with a photographic record of progress. Details of the progress of another harlequin fetus to 6 months of age are given. The clinical diagnosis of the former patient is nonbullous ichthyosiform erythroderma.

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7

Londhe, MangeshMachindra, TusharVitthalrao Patil, and KishorHiraman Suryawanshi. "Harlequin fetus: A case report." Indian Journal of Pathology and Microbiology 65, no. 2 (2022): 462. http://dx.doi.org/10.4103/ijpm.ijpm_1150_20.

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8

NAYAR, MALLIKA, and GIAM YOKE CHIN. "HARLEQUIN FETUS TREATED WITH ETRETINATE." Pediatric Dermatology 9, no. 3 (1992): 311–14. http://dx.doi.org/10.1111/j.1525-1470.1992.tb00358.x.

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9

Moreau, S., E. Salame, M. Goullet de Rugy, and P. Delmas. "Harlequin fetus: a case report." Surgical and Radiologic Anatomy 21, no. 3 (1999): 215–16. http://dx.doi.org/10.1007/bf01630905.

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10

Cho, J., M. Jo, P. Lee, et al. "P24.12: Congenital ichthyosis (Harlequin fetus)." Ultrasound in Obstetrics & Gynecology 40, S1 (2012): 262–63. http://dx.doi.org/10.1002/uog.12090.

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11

Ward, P. S., and R. D. Jones. "Successful treatment of a harlequin fetus." Archives of Disease in Childhood 64, no. 9 (1989): 1309–11. http://dx.doi.org/10.1136/adc.64.9.1309.

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12

LAWLOR, FRANCES, and SANDRA PEIRIS. "Harlequin fetus successfully treated with etretinate." British Journal of Dermatology 112, no. 5 (2006): 585–90. http://dx.doi.org/10.1111/j.1365-2133.1985.tb15268.x.

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13

Roberts, Lynne J. "Long-term survival of a harlequin fetus." Journal of the American Academy of Dermatology 21, no. 2 (1989): 335–39. http://dx.doi.org/10.1016/s0190-9622(89)80029-5.

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14

Singh, L. Ranbir, Y. Tomba Singh, Ch Shyamsunder Singh, and Kh Tomba Singh. "Harlequin Fetus in Two Siblings A case report." Journal of Neonatology 18, no. 3 (2004): 52–54. http://dx.doi.org/10.1177/0973217920040308.

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15

Hashimoto, Ken, and Shahida Khan. "Harlequin fetus with abnormal lamellar granules and giant mitochondria." Journal of Cutaneous Pathology 19, no. 3 (1992): 247–52. http://dx.doi.org/10.1111/j.1600-0560.1992.tb01666.x.

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16

Ahmed, Mohammed Ahmed Ibrahim, Mohamed Ali Saad Mohamed, Salwa Ahmed Mohammed Abbas, Athar Asim Ahmed Mohammed, and Nosiba Ibrahim Hammed Alyamani. "Postnatal diagnosis of harlequin ichthyosis a case report." International Journal of Pregnancy & Child Birth 7, no. 2 (2021): 40–43. http://dx.doi.org/10.15406/ipcb.2021.07.00224.

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Objective: Ichthyoses are cornification disorders in which irregular epidermal separation and desquamation result in a faulty epidermal membrane. Harlequin ichthyosis (HI) was a rare and extreme type that led to neonatal death. It was caused by mutations in the ABCA12 gene, and the inheritance pattern is autosomal recessive. Case report: We present a case of HI that was diagnosed postnatally by clinical review. Extreme ectropion, eclabium, flattened nose, and primitive ears were discovered in the fetus. As a result of HI complications, the fetus died. Conclusion: The presence of HI was linked

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17

ÖRMECİ, Ahmet Rıfat, and R. Nuri ŞENER. "A Case of Harlequin Fetus with Hypertelorism and Club-Foot." Turkish Journal of Medical Sciences 26, no. 2 (1996): 213–14. http://dx.doi.org/10.55730/1300-0144.5255.

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18

Watson, W. J., and L. M. Mabee. "Prenatal diagnosis of severe congenital ichthyosis (harlequin fetus) by ultrasonography." Journal of Ultrasound in Medicine 14, no. 3 (1995): 241–43. http://dx.doi.org/10.7863/jum.1995.14.3.241.

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19

Bongain, A., B. Benoit, L. Ejnes, J. C. Lambert, and J. Y. Gillet. "Harlequin fetus: three-dimensional sonographic findings and new diagnostic approach." Ultrasound in Obstetrics and Gynecology 20, no. 1 (2002): 82–85. http://dx.doi.org/10.1046/j.1469-0705.2002.00708.x.

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20

Jian, Wei, Qi-Ting Du, Zhen-Fei Lai, et al. "Prenatal diagnose of a fetus with Harlequin ichthyosis in a Chinese family." Taiwanese Journal of Obstetrics and Gynecology 57, no. 3 (2018): 452–55. http://dx.doi.org/10.1016/j.tjog.2018.04.023.

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21

Meizner, Israel. "Prenatal ultrasonic features in a rare case of congenital ichthyosis (harlequin fetus)." Journal of Clinical Ultrasound 20, no. 2 (1992): 132–34. http://dx.doi.org/10.1002/jcu.1870200209.

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22

Thakur, Seema, Lily Pal, and Shubha R. Phadke. "Lethal arthrogryposis with icthyosis: overlap with Neu???Laxova syndrome, restrictive dermopathy and harlequin fetus." Clinical Dysmorphology 13, no. 2 (2004): 117–19. http://dx.doi.org/10.1097/00019605-200404000-00014.

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23

Takhtarova, Tatyana Gennadyevna, Zarema Rimovna Khismatullina, Lyudmila Dmitrievna Panova, and Anastasia Nikolaevna Panova. "Ichthyosis (concept, pathohistology, clinical picture, treatment)." Vestnik dermatologii i venerologii 97, no. 3 (2021): 6–13. http://dx.doi.org/10.25208/vdv1214.

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Ichthyosis is a skin disease that is hereditary, has pronounced symptoms in the form of a violation of the skin, and the presence of formations resembling fish scales. It is possible to distinguish different approaches to the definition of ichthyosis, based on the modern study of this issue. Ichthyosis is classified by type: congenital and acquired. Congenital ichthyosis has its own classification depending on the manifestation of changes in the skin, the course of the disease, concomitant pathologies. Congenital ichthyosis is divided into ordinary (vulgar autosomal dominant, simple) ichthyosi

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24

Khatri, Arun Naphe. "A case report of harlequin ichthyosis in newborn." Journal of Clinical Images and Medical Case Reports 5, no. 8 (2024). https://doi.org/10.52768/2766-7820/3220.

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25

Devnani, Joti, Ujalla Kumari, and Zil-e. Rubab. "Harlequin fetus born from Consanguinity: A deleterious case report." Pakistan Journal of Medical Sciences 35, no. 5 (2019). http://dx.doi.org/10.12669/pjms.35.5.916.

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Harlequin Ichthyosis (HI) is a dreadful skin disorder with steady rise of cases with prolonged survival. Harlequin fetus follows an autosomal recessive pattern with the incidence of 1in 300,000 live births. In the succeeding case report, a male child was born with keratinized and kaleidoscopic diamond pattern of skin suggestive of HI. He was born at 36th week of gestation from consanguineous marriage. The newborn remained under extensive intensive care in a tertiary care unit where he breathed his last on 11th day after birth. Prenatal diagnosis and genetic counseling is of vital importance du

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26

Lahlou, A., H. Elmahi, S. Gallouj, and FZ Mernissi. "Harlequin Ichthyosis: A Rare Case Report." April 26, 2017. https://doi.org/10.19070/2332-2977-1700029.

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Harlequin fetus is a rare and the most severe genetic form of the congenital ichthyosis with an autosomal recessive inheritance. Incidence of the disease is nearly 1 in 3,00,000 live births. The disease might be lethal at birth and the affected babies are often premature. Harlequin ichthyosis [HI] is marked by severe keratinized and alligator-like horned skin. The present study reports a new case of harlequin fetus born to the consanguineous parents. He had the typical skin manifestations of thick armour like scales with fissures, complete ectropion and eclabium, atrophic and crumpled ears and

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27

Belengeanu, V., D. Stoicanescu, M. Stoian, N. Andreescu, and C. Budisan. "Ichthyosis congenita, harlequin fetus type: a case report." Advances in Medical Sciences 54, no. 1 (2009). http://dx.doi.org/10.2478/v10039-009-0019-2.

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28

Sereke, Senai Goitom, Semhar Eyob Berhe, and Felix Bongomin. "Harlequin fetus: A mayhem in a consanguineous marriage?" Clinical Case Reports 9, no. 7 (2021). http://dx.doi.org/10.1002/ccr3.4540.

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29

Palalıoğlu, Rabia Merve, Halil Ibrahim Erbıyık, Aytakin Mahammadaliyeva, Batuhan Palalıoğlu, and Rojda Bayar. "Harlequin fetus in a twin sibling: a rare case report." Perinatal Journal 29 (September 6, 2021). http://dx.doi.org/10.2399/prn.21.0293012.

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Objective: Ichthyosis is a heterogeneous group of disorders characterized by hereditary keratinization of the skin. Ichthyosis means “fish skin.” There are at least 20 different types of ichthyosis. Among these, Harlequin-type ichthyosis is a rare, but often fatal, special form of congenital ichthyosis. Rates are higher in certain populations with higher probability of inbreeding. Babies are born with parchment-paper-like transparent membrane covering the whole body. Complications such as dehydration, prematurity, sepsis, electrolyte imbalance, and pneumonia could occur, adversely affecting su

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30

"A Case Of Harlequin Fetus With Psoriasis In His Family." Internet Journal of Pediatrics and Neonatology 2, no. 1 (2001). http://dx.doi.org/10.5580/27f3.

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31

"A Case Of Harlequin Fetus With Psoriasis In His Family." Internet Journal of Dermatology 1, no. 1 (2001). http://dx.doi.org/10.5580/5c6.

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32

"Harlequin Fetus in a Twin Pregnancy: An Extremely Rare Presentation." Journal of the College of Physicians and Surgeons Pakistan 30, no. 06 (2020): 652–54. http://dx.doi.org/10.29271/jcpsp.2020.06.652.

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33

Liu, Jiao, Xingyu Zhang, Weilan Wang, et al. "Case Report: Prenatal Diagnosis of a Fetus With Harlequin Ichthyosis Identifies Novel Compound Heterozygous Variants: A Case Report." Frontiers in Genetics 11 (January 12, 2021). http://dx.doi.org/10.3389/fgene.2020.608196.

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BackgroundHarlequin ichthyosis (HI) is the most severe form of the keratinizing disorders, and it is characterized by whole-body hard stratum corneum. ABCA12 has been identified as the major disease-causing gene of HI.MethodsA case of HI was prenatally diagnosed by ultrasonography and genetic tests. The fetus had been found with dentofacial deformity and profound thickening of the palm and plantar soft tissues. Chromosomal microarray analysis (CMA) and whole exome sequencing (WES) were then performed on the amniotic fluid to identify germline pathogenic variants for the fetus. Candidate varian

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34

Hemminger, GE, P. Höger, HH Hellwege, and B. Hüneke. "Ichthyosis congenitalis/ Harlequin Fetus: Pränatale Diagnostik und neonatologischer Verlauf. Fallbericht und Literaturauswertung." Zeitschrift für Geburtshilfe und Neonatologie 207, S 2 (2004). http://dx.doi.org/10.1055/s-2003-818174.

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Zhu, Linyan, Rui Zhou, Lianxiao Zhang, et al. "A novel variant c.7104 + 6T > A of ABCA12 linked to autosomal recessive congenital ichthyosis verified by minigene splicing assay." Frontiers in Pediatrics 12 (December 19, 2024). https://doi.org/10.3389/fped.2024.1505924.

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BackgroundAutosomal recessive congenital ichthyosis (ARCI) is a group of genetic skin disorders characterized by abnormal keratinization, leading to significant health issues and reduced quality of life. ARCI encompasses harlequin ichthyosis (HI), congenital ichthyosiform erythroderma (CIE), and lamellar ichthyosis (LI). While all ARCI genes are linked to LI and CIE, HI is specifically associated with severe mutations in the ABCA12 gene. Milder forms like LI and CIE usually involve at least one non-truncating ABCA12 variant.MethodsWhole-exome sequencing (WES) was performed on fetal and parenta

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