HARLEQUIN FETUS, A CASE REPORT.

Authors

  • Yarine Fajardo Tornés HOSPITAL PROVINCIAL “CARLOS MANUEL DE CESPEDES”
  • Ileana Ravelo Amargos HOSPITAL PROVINCIAL “CARLOS MANUEL DE CESPEDES”
  • Rita Sánchez Lombarda HOSPITAL PROVINCIAL “CARLOS MANUEL DE CESPEDES”

Keywords:

LAMELLAR ICTHYOSIS/diagnosis.

Abstract

It is prsented a newborn case,male, 2900 grams, carrier of Harlequin Fetus Syndrome, with phenotipics of ectropion,eclabium, alopecia, palmar and plantar  keratosis.It is an autonomic, recesive,weird, and severe disease. There were not found consanguinity antecedents in the parents. The main pathophysiological elements were checked. In the national bibliography has not been published a similar case. 

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References

1. 1. Akiyama M, Sugiyama-Nakagiri Y, Sakai K, McMillan JR, Goto M, Arita K, Tsuji-Abe Y, Tabata N, Matsuoka K, Sasaki R, Sawamura D, Shimizu H (2005) Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. J Clin Invest 115:1777-84 [Medline]

2. 2. Annilo T, Shulenin S, Chen ZQ, Arnould I, Prades C, Lemoine C, Maintoux-Larois C, Devaud C, Dean M, Denefle P, Rosier M (2002) Identification and characterization of a novel ABCA subfamily member, ABCA12, located in the lamellar ichthyosis region on 2q34. Cytogenet Genome Res 98:169-76 [Medline]

3. 3. Eckl KM, Krieg P, Kuster W, Traupe H, Andre F, Wittstruck N, Furstenberger G, Hennies HC (2005) Mutation spectrum and functional analysis of epidermis-type lipoxygenases in patients with autosomal recessive congenital ichthyosis. Hum Mutat 26:351-61 [Medline]

4. 4. Fischer J, Faure A, Bouadjar B, Blanchet-Bardon C, Karaduman A, Thomas I, Emre S, Cure S, Ozguc M, Weissenbach J, Prud'homme JF (2000) Two new loci for autosomal recessive ichthyosis on chromosomes 3p21 and 19p12-q12 and evidence for further genetic heterogeneity. Am J Hum Genet 66:904-13 [Medline]

5. 5. Huber M, Rettler I, Bernasconi K, Frenk E, Lavrijsen SP, Ponec M, Bon A, Lautenschlager S, Schorderet DF, Hohl D (1995) Mutations of keratinocyte transglutaminase in lamellar ichthyosis [see comments]. Science 267:525-8 [Medline]

6. 6. Jobard F, Lefevre C, Karaduman A, Blanchet-Bardon C, Emre S, Weissenbach J, Ozguc M, Lathrop M, Prud'homme JF, Fischer J (2002) Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. Hum Mol Genet 11:107-13. [Medline]

7. Kelsell DP, Norgett EE, Unsworth H, Teh MT, Cullup T, Mein CA, Dopping-Hepenstal PJ, Dale BA, Tadini G, Fleckman P, Stephens KG, Sybert VP, Mallory SB, North BV, Witt DR, Sprecher E, Taylor AE, Ilchyshyn A, Kennedy CT, Goodyear H, Moss C, Paige

D, Harper JI, Young BD, Leigh IM, Eady RA, O'Toole EA (2005) Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet 76:794-803 [Medline]

7. 8. Kim HC, Idler WW, Kim IG, Han JH, Chung SI, Steinert PM (1991) The complete amino acid sequence of the human transglutaminase K enzyme deduced from the nucleic acid sequences of cDNA clones. J Biol Chem 266:536-9 [Medline]

8. 9. Kim IG, McBride OW, Wang M, Kim SY, Idler WW, Steinert PM (1992) Structure and organization of the human transglutaminase 1 gene. J Biol Chem 267:7710-7 [Medline]

9. 10. Krebsova A, Kuster W, Lestringant GG, Schulze B, Hinz B, Frossard PM, Reis A, Hennies HC (2001) Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome 17p, and evidence for further genetic heterogeneity. Am J Hum Genet 69:216-22 [Medline]

Published

2009-04-10

How to Cite

1.
Fajardo Tornés Y, Ravelo Amargos I, Sánchez Lombarda R. HARLEQUIN FETUS, A CASE REPORT. RM [Internet]. 2009 Apr. 10 [cited 2025 Jul. 26];13(2). Available from: https://revmultimed.sld.cu/index.php/mtm/article/view/1701

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Section

CASOS CLÍNICOS