Case report of adolescent male with non-bullous congenital ichthyosiform erythroderma visiting dermatology clinic of King Fahad Military Hospital, Jeddah, Saudi Arabia, 2017

Authors

  • Sarah Mohammed Alshawi Medical college, King Abdul-Aziz University, Western Region, Jeddah
  • Fadi Ali Al-Ghamdi Department of Dermatology, King Fahd Armed Forces Hospital, Western Region, Jeddah
  • Hani Saad Al-Mugti Department of Community and Preventive Medicine, King Abdullah International Medical Research Centre, King Saud bin Abdul-Aziz University for Health Science, Western Region, Jeddah
  • Malik Saad Al-Muqati Department of Laboratory and Molecular Pathology, King Fahd Armed Forces Hospital, Western Region, Jeddah

DOI:

https://doi.org/10.18203/issn.2455-4529.IntJResDermatol20180145

Keywords:

ABCA12, Non-bullous congenital ichthysiform, Autosomal recessive, Keratoderma

Abstract

Non-bullous congenital ichthyosiform erythroderma (NBCIE) is an inherited disease with autosomal recessive form. It is considered as an extremely rare skin disorder that estimated to occur in 1/300,000 births, characterized by abnormal scaling of the skin with underlying redness. This is a case report study design with detailed history, examination and genetic analysis of 17 years old male with Non-bullous congenital ichthyosiform erythroderma (NBCIE).

Author Biographies

Sarah Mohammed Alshawi, Medical college, King Abdul-Aziz University, Western Region, Jeddah

Medical Doctor  king abdulaziz university, western region, jeddah city 21442, Saudi Arabia

Fadi Ali Al-Ghamdi, Department of Dermatology, King Fahd Armed Forces Hospital, Western Region, Jeddah

MD medical doctor

SBD  saudi board of dermatology

ABS  arab board of dermatology

Hani Saad Al-Mugti, Department of Community and Preventive Medicine, King Abdullah International Medical Research Centre, King Saud bin Abdul-Aziz University for Health Science, Western Region, Jeddah

(MD)Medical doctor

(SBCM) saudi board of community medicine

(JBCM) jordanian board of community medicine

Malik Saad Al-Muqati, Department of Laboratory and Molecular Pathology, King Fahd Armed Forces Hospital, Western Region, Jeddah

BSc in Medical Siences and Medical Technology

References

Dean M, Hamon Y, Chimini G. The human ATP-binding cassette (ABC) transporter superfamily. Journal of Lipid Research. 2001;42(7):1007-17.

Kelsell PD, Norgett EE, Unsworth H, Teh MT, Cullup T, Mein CA, et al. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. The American Journal of Human Genetics. 2005;76(5):794-803.

Elias PM, Williams ML, Holleran WM, Jiang YJ, Schmuth M. Thematic review series: skin lipids. Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism. J Lipid Res. 2008;49(4):697-714.

Rajpopat S, Moss C, Mellerio J, Vahlquist A, Gånemo A, Hellstrom-Pigg M, et al. Harlequin ichthyosis: a review of clinical and molecular findings in 45 cases. Arch Dermatol. 2011;147(6):681-6.

Boyden LM, Craiglow BG, Hu RH, Zhou J, Browning J, Eichenfield L, et al. Phenotypic Spectrum of Autosomal Recessive Congenital Ichthyosis Due to PNPLA1 Mutation. Br J Dermatol. 2017;177(1):319-22.

Eckl KM, De Juanes S, Kurtenbach J, Nätebus M, Lugassy J, Oji V, et al. Molecular analysis of 250 patients with autosomal recessive congenital ichthyosis: evidence for mutation hotspots in ALOXE3 and allelic heterogeneity in ALOX12B. Journal of Investigative Dermatology. 2009;30;129(6):1421-8.

Akiyama M, Sawamura D, Shimizu H. The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis. Clinical and experimental dermatology. 2003;28(3):235-40.

Setyowatie L, Zulkarnain I. Non Bullous Congenital Ichthyosiform Erythroderma. Berkala Ilmu Kesehatan Kulit dan Kelamin. 2014;26(2):1-8.

Natsuga K, Akiyama M, Kato N, Sakai K, Sugiyama-Nakagiri Y, Nishimura M, et al. Novel ABCA12 mutations identified in two cases of non-bullous congenital ichthyosiform erythroderma associated with multiple skin malignant neoplasia. J Investigative Dermatol. 2007;127(11):2669-73.

Spitz JL, editor. Genodermatoses: A clinical guide to genetic skin disorders. Lippincott Williams & Wilkins; 2005.

Burgdorf WH. Fitzpatrick's dermatology in general medicine. In: Freedberg IM, Eisen AZ, Wolff K, Austen KF, Goldsmith LA, Stephen I, et al, editors, New York, McGraw-Hill. 2003: 3328.

Wang FM, Wang CC, Le CM, Lo WT. Nonbullous congenital ichthyosiform erythroderma in a Neonate. J Med Sci. 2009;29(3):147-9.

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Published

2018-01-23