Lamellar ichthyosis. A recurring family case

Authors

  • Jorge Luis Sosa Flores Universidad Nacional Pedro Ruiz Gallo, Lambayeque, Perú
  • Carmen Eva Zegarra Hinostroza de Lip Hospital Docente Las Mercedes, Chiclayo, Perú
  • Evelyn Yamilet Merino Escobar Hospital Almanzor Aguinaga Asenjo. EsSalud, Chiclayo, Perú
  • Andy Christopher Orellano Sánchez Hospital Almanzor Aguinaga Asenjo. EsSalud, Chiclayo, Perú

DOI:

https://doi.org/10.35434/rcmhnaaa.2022.154.1395

Keywords:

Ichthyosis, autosomal recessive congenital ichthyosis, lamellar ichthyosis, Case Reports, Peru

Abstract

Introduction: Hereditary ichthyosis can be syndromic and non-syndromic, the latter, according to the cutaneous phenotypic expression, include common ichthyosis, X-linked recessive ichthyosis, autosomal recessive congenital ichthyosis, keratinopathic ichthyosis and other forms. Autosomal recessive congenital ichthyosis includes three main phenotypes: harlequin ichthyosis, lamellar ichthyosis, and congenital ichthyosiform erythroderma. We report a clinical case of recurrent lamellar ichthyosis in a family. Case Report: Preterm newborn, has a 6-year-old sister, diagnosed with lamellar ichthyosis. Mother denies consanguinity with husband, and relatives with this disease. At birth, it is observed covered with collodion membrane throughout the skin, ectropion and eclabio. The initial management was Vaseline gauze, artificial tears, wet gauze in the eyes. Currently baths with shower cream, Shampoo and mineral oil, moisturizing creams and lotions and Acitretin, is clearly improving. Conclusions: With the medical history and family history it is possible to diagnose lamellar ichthyosis. Management is multidisciplinary.

Downloads

Download data is not yet available.

Metrics

Metrics Loading ...

Author Biographies

Jorge Luis Sosa Flores, Universidad Nacional Pedro Ruiz Gallo, Lambayeque, Perú

Médico Pediatra

Carmen Eva Zegarra Hinostroza de Lip, Hospital Docente Las Mercedes, Chiclayo, Perú

Médico Pediatra

Evelyn Yamilet Merino Escobar, Hospital Almanzor Aguinaga Asenjo. EsSalud, Chiclayo, Perú

Médico Pediatra

Andy Christopher Orellano Sánchez, Hospital Almanzor Aguinaga Asenjo. EsSalud, Chiclayo, Perú

Medico General

References

Dreyfus I, Chouquet C, Ezzedine K, Henner S, Chiavérini C, Maza A, Pascal S, Rodriguez L, Vabres P, Martin L, Mallet S, Barbarot S, Dupuis J, Mazereeuw-Hautier J. Prevalence of inherited ichthyosis in France: a study using capture-recapture method. Orphanet J Rare Dis. 2014 Jan 6;9:1. doi: 10.1186/1750-1172-9-1. PMID: 24393603; PMCID: PMC3892037. https://doi.org/10.1186%2F1750-1172-9-1

Hernández-Martín A, Garcia-Doval I, Aranegui B, de Unamuno P, Rodríguez-Pazos L, González-Enseñat MA, Vicente A, Martín-Santiago A, Garcia-Bravo B, Feito M, Baselga E, Círia S, de Lucas R, Ginarte M, González-Sarmiento R, Torrelo A. Prevalence of autosomal recessive congenital ichthyosis: a population-based study using the capture-recapture method in Spain. J Am Acad Dermatol. 2012 Aug;67(2):240-4. doi: 10.1016/j.jaad.2011.07.033. Epub 2011 Oct 14. PMID: 22000705. https://doi.org/10.1016/j.jaad.2011.07.033

Morales-González LA, Hernández-Pallares R, Salinas-Meritú A. Caso familiar de ictiosis laminar. Rev Mex Pediatr 2019; 86(2); 71-74

Pérez-Armas R. Ictiosis laminar: presentación de un caso. Revista Finlay [revista en Internet]. 2013 [citado 2022 Nov 14]; 3(2):[aprox. 4 p.]. Disponible en: http://revfinlay.sld.cu/index.php/finlay/article/view/151

Rasheed M, Karim N, Shah FA, Naeem M. Novel TGM1 mutation in a Pakistani family affected with severe lamellar ichthyosis. Pediatr Neonatol. 2018 Dec;59(6):628-629. doi: 10.1016/j.pedneo.2018.01.003. Epub 2018 Jan 9. PMID: 29396135. https://doi.org/10.1016/j.pedneo.2018.01.003

Al-Naamani A, Al-Waily A, Al-Kindi M, Al-Awadi M, Al-Yahyaee SA. Transglutaminase-1 mutations in Omani families with lamellar ichthyosis. Med Princ Pract. 2013;22(5):438-43. doi: 10.1159/000349914. Epub 2013 May 15. PMID: 23689228; PMCID: PMC5586776. https://doi.org/10.1159/000349914

Wakil SM, Binamer Y, Al-Dossari H, Al-Humaidy R, Thuraya RA, Khalifa O, Finsterer J, Meyer BF, Al Owain M. Novel mutations in TGM1 and ABCA12 cause autosomal recessive congenital ichthyosis in five Saudi families. Int J Dermatol. 2016 Jun;55(6):673-9. doi: 10.1111/ijd.13279. Epub 2016 Apr 7. PMID: 27061915. https://doi.org/10.1111/ijd.13279https://doi.org/10.1111/ijd.13279

Ennouri M, Zimmer AD, Bahloul E, Chaabouni R, Marrakchi S, Turki H, Fakhfakh F, Bougacha-Elleuch N, Fischer J. Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype-phenotype correlation. BMC Med Genomics. 2022 Jan 5;15(1):4. doi: 10.1186/s12920-021-01154-z. PMID: 34983512; PMCID: PMC8729015. https://doi.org/10.1186%2Fs12920-021-01154-z

Oji V, Tadini G, Akiyama M, Blanchet Bardon C, Bodemer C, Bourrat E, Coudiere P, DiGiovanna JJ, Elias P, Fischer J, Fleckman P, Gina M, Harper J, Hashimoto T, Hausser I, Hennies HC, Hohl D, Hovnanian A, Ishida-Yamamoto A, Jacyk WK, Leachman S, Leigh I, Mazereeuw-Hautier J, Milstone L, Morice-Picard F, Paller AS, Richard G, Schmuth M, Shimizu H, Sprecher E, Van Steensel M, Taïeb A, Toro JR, Vabres P, Vahlquist A, Williams M, Traupe H. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. J Am Acad Dermatol. 2010 Oct;63(4):607-41. doi: 10.1016/j.jaad.2009.11.020. PMID: 20643494. https://doi.org/10.1016/j.jaad.2009.11.020

Vega N, Araníbar L. Ictiosis hereditaria: desafío diagnóstico y terapéutico. Rev Chil Pediatr. 2016;87(3):213-223.

Rodríguez-Pazos L, Ginarte M, Vega A, Toribio J. Clasificación clínica y molecular de las ictiosis. Piel (Barc). 2012; 27:314-26.

Rodríguez-Pazos L, Ginarte M, Vega A, Toribio J. Ictiosis congénitas autosómicas recesivas. Actas Dermosifiliogr. 2013; 104:270-84.

Heinz, L., Kim, GJ, Marrakchi, S., Christiansen, J., Turki, H., Rauschendorf, MA, Lathrop, M., Hausser, I., Zimmer, AD y Fischer, J. (2017) . Las mutaciones en SULT2B1 causan ictiosis congénita autosómica recesiva en humanos. Revista estadounidense de genética humana, 100 (6), 926–939.

Hernández-Martín A, Torrelo-Fernández A, de Lucas-Laguna R, et al. First symposium of ichthyosis experts. Actas Dermosifiliogr. 2013; 104:877-82.

Rajpopat S, Moss C, Mellerio J, et al. Harlequin ichthyosis. Arch. Dermatol. 2011; 147:681-6.

Schmuth M, Martinz V, Janecke AR, Fauth C, Schossig A, Zschocke J, Gruber R. Inherited ichthyoses/generalized Mendelian disorders of cornification. Eur J Hum Genet. 2013 Feb;21(2):123-33. doi: 10.1038/ejhg.2012.121. Epub 2012 Jun 27. PMID: 22739337; PMCID: PMC3548255. https://doi.org/10.1038%2Fejhg.2012.121

Prado R, Ellis LZ, Gamble R et al. Collodion baby: an update with a focus on practical management. J Am Acad Dermatol. 2012; 67: 1362-1374.

Rodríguez-Pazos L, Ginarte M, Fachal L, Toribio J, Carracedo A, Vega A. Analysis of TGM1, ALOX12B, ALOXE3, NIPAL4 and CYP4F22 in autosomal recessive congenital ichthyosis from Galicia (NW Spain): evidence of founder effects. Br J Dermatol. 2011; 165: 906-911.

Valladares M, Caballero HR. Eritrodermia Ictiosiforme Congénita no ampollosa. Acta Pediátrica Hondureña, Vol. 8, No. 1 /abril a septiembre 2017

Puccio M, Fornies Paz M, Polo C, Lopez B, Fandino A. Ictiosis Congénita: Manifestaciones oftalmologicas. . Medicina Infantil 2015; XXII: 116 - 119.

Eyelid Abnormalities in Lamellar Ichthyoses Cruz A. V., MD, PhD,1 Fabiano A. H. Menezes, MD, PhD,2 Ricardo Chaves, MD,1 Roberto Pinto Coelho, MD,1 Eliane F. Velasco, MD,3 Henrique Kikuta, MD3O¬phthalmology 2000; 107: 1895-8.

Van Gysel D, Lijnen RL, Moekti SS, de Laat PC, Oranje AP. Collodion baby: a follow-up study of 17 cases. J Eur Acad Dermatol Venereol. 2002; 16:472-5.

Moraes ELL, Freire MHS, Rocha F, Secco IL, Costa T, Afonso RQ. Nursing care for a newborn with Lamellar Ichthyosis: a case study in a neonatal unit. Rev Esc Enferm USP. 2019; 53: e03519. DOI: http://dx.doi.org/10.1590/S1980-220X2018031603519.

Luu M, Cantatore-Francis JL, Glick SA. Prenatal diagnosis of genodermatoses: current scope and future capabilities. Int J Dermatol. 2010; 49: 353-361.

Estrada AG, García GA, Meza DM. Bebé colodión. Bol Med Hosp Infant Mex. 2010; 67(4):352-8

Published

2023-02-17

How to Cite

1.
Sosa Flores JL, Zegarra Hinostroza de Lip CE, Merino Escobar EY, Orellano Sánchez AC. Lamellar ichthyosis. A recurring family case. Rev. Cuerpo Med. HNAAA [Internet]. 2023 Feb. 17 [cited 2024 May 17];15(4):626-9. Available from: http://cmhnaaa.org.pe/ojs/index.php/rcmhnaaa/article/view/1395