Harlequin ichthyosis: A rare dermatological disorder

Abstract

International Journal of Case Reports and Images (IJCRI) is an international, peer reviewed, monthly, open access, online journal, publishing high-quality, articles in all areas of basic medical sciences and clinical specialties.Aim of IJCRI is to encourage the publication of new information by providing a platform for reporting of unique, unusual and rare cases which enhance understanding of disease process, its diagnosis, management and clinico-pathologic correlations. Neonates usually die within the first few days of life from infection or dehydration related complications. Prenatal diagnosis remains difficult but may be possible in high risk pregnancies by performing a fetal skin biopsy or by three-dimensional ultrasonography. Case Report: We report the case of Harlequin ichthyosis for its rarity and briefly review literature. Conclusion: This case has been reported for the rarity of Harlequin ichthyosis and to create awareness among pediatricians to identify the condition promptly.

Siblings with congenital ichthyosis – A case report

“…Postnatal diagnosis is mostly on clinical basis supported by genetic studies [4]. In our case, the genetic workup revealed ABCA12 mutation.…”

“…Other features include a severe bilateral ectropion, eclabium, flattened and crumbled ears, malformed nose, and semi-flexed extremities due to restricted joint mobility, and absent or hypoplastic nails. Scalp hair, eyebrows, and eyelashes are usually absent [1,4,5]. We are presenting this rare devastating gene dermatoses encountered in two siblings from our tertiary health care institute.…”

Harlequin Infant Born to a Varicella Infected Mother: A Case Report

“…Management of these infants is through a multi-disciplinary approach involving a team comprising pediatrician, dermatologist, ophthalmologist & reconstructive surgeon [20]. Retinoids and their derivatives are the most effective class of drugs in this disorder which hastens desquamation [37].…”

“…Pre-natal diagnosis of harlequin ichthyosis can be done by electron microscopy, three-dimensional ultrasonography and DNA analysis [20,28]. Ultra-structural examination is done at 19-23 weeks of gestation which relies on the identification of abnormal, vacuolated lamellar granules in epidermis & hyperkeratosis of the hair canal [29].…”

“…There are 3 major components involved in epidermal barrier function namely intercellular lipid layer, cornified cell envelope and keratin/filaggrin degradation products [19]. Formation of the intercellular lipid layer involves a series of highly complex processes that includes transport of lipids into lamellar granules and its secretion into stratum corneum which is mediated by lipid transporter, ABCA12 [20,21]. It is a member of a large superfamily of ATP-binding cassette (ABC) transporters that bind and hydrolyse ATP to transport various molecules across a limiting membrane or into a vesicle [9,22].…”