Delivery of a Harlequin lchthyosis Baby : A case report

DOI:

Sultana K1 , Nazneen R2 , Parveen U3 , Alam M.M. D4

Abstract

Harlequin ichthyosis is very rare genetic skin disorder with severe morbidity and mortality. It is the severe form of autosomal recessive congenital ichthyosis (ARC!) which is often lethal in the neonatal period. Patient may survive for several months or years in very rare case2. HI appears with severely thickened and scaly skin over the whole body. There are deep, elythematous fissures which separate large diamond shaped thick skin plates. In addition, ectropion, lack of development of the external parts of the nose and ears, eclabium and open mouth, hypoplastic fingers, anonychia and mobility limitation of the joints are some other clinical feature of Neonates with HI are at high risk for development of hypothermia, hyperesthesia, dehydration, respiratory distress, hypoventilation, malnutrition, hypematremia, seizure and skin infectionss.

HI is associated with preterm birth and often leads to death due to neonatal complications such as fluid loss and septicemia6.

The underlying genetic abnormality in HI has been identified as an alteration in the lipid—transporter gene adenosine triphosphate binding cassette transporter A 12 (ABCA 12) on chromosome -117.

Histological examination of the skin reveals characteristic abnormalities in the structure of lamellar granules and the expression of epidermal keratins.

Prenatal diagnosis would be the first step for early detection of the disease. Therefore, obtaining the family history, consanguinity between the parents, and the presence of other skin disorders in offspring would be very helpful for early diagnosis of the disease& Microscopic examination of the amniotic fluid cells and ultrasound for assessment of the shape of fetal mouth at 17 weeks of pregnancy might be useful for the early detection. Prenatal diagnosis can also be feasible using skin biopsy at 24 weeks of pregnancy, especially among the families with a history of HI. Although ultrasonography can be useful in some cases but it might not be applicable due to delayed phenotypic expression and the rarity of the disease;. Furthermore, sequence analysis of ABCAI2 should be done first for the individuals with HI history's.

 

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  1. Professor. Department of Obstetrics & Gynecology

    Holy Family Red Crescent Medical College Hospital, Dhaka

  2. Associate Professor, Department of Obstetrics & Gynecology

    Holy Family Red Crescent Medical College Hospital, Dhaka

  3. Assistant Professor, Department of Obstetrics & Gynecology

    Holy Family Red Crescent Medical College Hospital, Dhaka

  4. Registrar, NICU

    Holy Family Red Crescent Medical College Hospital, Dhaka


Volume 27, Number 2 July 2017
Page: 43-46