A CASE REPORT OF TWO SIBLINGS WITH HARLEQUIN ICHTHYOSIS

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BASIRI B.; SHOKOOHI M.

مرکز اطلاعات علمی Scientific Information Database (SID) - Trusted Source for Research and Academic Resources

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Journal: Razi Journal of Medical Sciences Year:2005 | Volume:12 | Issue:45 Page(s): 43-48

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Title

A CASE REPORT OF TWO SIBLINGS WITH HARLEQUIN ICHTHYOSIS

Author(s)

BASIRI B. | SHOKOOHI M. | Issue Writer Certificate

Keywords

HARLEQUIN FETUSQ4

HYPERKERATOSISQ4

ICHTHYOSISQ3

Abstract

Harlequin ICHTHYOSIS (HI) describes a severe erythrodermic ICHTHYOSIS and causes a distinctive and grotesque appearance at birth. Survival is now possible; therefore, harlequin ICHTHYOSIS is a more appropriate term than HARLEQUIN FETUS. Incidence is 1 in 300,000 births. An autosomal recessive pattern of inheritance is seen in this disorder, but a new autosomal dominant mutation may possibly be responsible. The prognosis is ominous and most of the affected neonates die in the first hours or days of life. In this case report we present two cases of HI who were the first and the second baby of a family and their parents were cousins.

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APA: Copy

BASIRI, B., & SHOKOOHI, M.. (2005). A CASE REPORT OF TWO SIBLINGS WITH HARLEQUIN ICHTHYOSIS . RAZI JOURNAL OF MEDICAL SCIENCES (JOURNAL OF IRAN UNIVERSITY OF MEDICAL SCIENCES), 12(45), 43-48. SID. https://sid.ir/paper/11176/en

Vancouver: Copy

BASIRI B., SHOKOOHI M.. A CASE REPORT OF TWO SIBLINGS WITH HARLEQUIN ICHTHYOSIS . RAZI JOURNAL OF MEDICAL SCIENCES (JOURNAL OF IRAN UNIVERSITY OF MEDICAL SCIENCES)[Internet]. 2005;12(45):43-48. Available from: https://sid.ir/paper/11176/en

IEEE: Copy

B. BASIRI, and M. SHOKOOHI, “A CASE REPORT OF TWO SIBLINGS WITH HARLEQUIN ICHTHYOSIS ,” RAZI JOURNAL OF MEDICAL SCIENCES (JOURNAL OF IRAN UNIVERSITY OF MEDICAL SCIENCES), vol. 12, no. 45, pp. 43–48, 2005, [Online]. Available: https://sid.ir/paper/11176/en

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