Results 121 to 130 of about 632 (150)

X-linked icthyosis and neurodevelopmental disorders: A case report and review of literature

Asian Journal of Psychiatry, 2017
The genetics of neurodevelopmental disorders have long intrigued clinicians and researchers alike. In this case report, we report a rare case of neurodevelopmental disorders associated with icthyosis with an underlying SHOX (short stature homeobox) gene mutation.
Sundar Gnanavel
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CONGENITAL ICTHYOSIS (HARLEQUIN FOETUS)

Obstetrical and Gynecological Survey, 1958
A K Joseph
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Harlequin icthyosis: report of one case

Archives of Gynecology and Obstetrics, 2009
Harlequin icthyosis is a rare extremely severe autosomal recessive dermatosis. The appearance of newborn can be shocking to parents and health care providers. Prenatal diagnosis is possible only with great suspicion and can often be missed. To our knowledge only 100 cases have been reported so far, we report one case of harlequin icthyosis.
Smiti Nanda, Nanda Smiti
exaly   +3 more sources

Harlequin icthyosis: a rare case report

International Journal of Medical Research and Health Sciences, 2016
Harlequin ichthyosis is the most severe form of congenital ichthyosis. It is a rare autosomal recessive disorder (1: 300, 000). The vast majority of affected individuals are due to mutation in the ABCA12 gene, which cause a deficiency of the epidermal lipid transporter, resulting in hyperkeratosis and abnormal barrier function of skin. Infants are very
Pradipprava Paria, Prabodh Ch Mondal, Sibnath Gayen, Gobinda Chandra Das   +3 more
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Harlequin icthyosis with empyema thoracis

Indian Journal of Pediatrics, 1986
The rarest and most severe form of icthyosis and its association wth empyema thoracis is reported from Central India.
K K Kaul
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Lamellar icthyosis – A case report of a Nigerian child

, 2018
Lamellar Ichthyosis (LI) is an autosomal recessive disorder with an incidence of less than 1 in 3 blacks. Lamellaricthyosis is usually diagnosed based on the history of collodion membrane at birth and the characteristic appearance of scales especially on the skin.
Madubuko, C.R, Benson, A.
openaire   +3 more sources

Extensive Icthyosis Uteri with in situ Carcinoma

2022
Jyoti Kiran Kudrimoti, Almas Sahir Chopdar, Shaila Chandrakant Puranik   +2 more
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Icthyosis uteri

American Journal of Obstetrics and Gynecology, 1962
William T. Patton, Gretchen V. Squires
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ICTHYOSIS.

Lancet, The
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Expert System diagnosis of icthyosis

Clinical and Experimental Dermatology, 1987
A Y, Finlay, J, Sinclair, J L, Alty
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