Sheeza Basharatalmost 2 years ago

HARLEQUIN ICHTHYOSIS

It is a very rare condition that affects the skin of newborns. ⠀ ⠀ ✅It is associated with poor barrier function of the skin leading to dehydration and leaves newborns prone to infections. ⠀ ⠀ ⏩It is also known as ichthyosis congenital or keratosis diffusa foetalis, is an extremely rare genetic disorder and characterized by severe erythrodermic ichthyosis and desquamation of the epidermis that gives the newborn a characteristic and alarming appearance. ⠀ ⠀ ⏩Other findings reported with this presentation are severe ectropion, eclabium, alopecia, digital contractures which may require a surgical consult and if not dealt with timely, may result in gangrene necessitating amputation, growth retardation, immature nostrils, and external auditory meatus⠀ ⠀ ⠀ ⏩It is due to mutations in adenosine triphosphate binding cassette A12 gene(chromosome 2q35)(which is responsible for the exocytosis of lipid-containing lamellar granules, which control the process of desquamation) transmitted as an autosomal recessive disorder. ⠀ ⠀ ⠀ ⏩This condition can be diagnosed antenatally by scanning with the following features: polyhydramnios, echogenic amniotic fluid, fetal growth restriction, eyes closed with eversion of the eyelids and lips (ectropion and eclabion, respectively), flat nose, mouth wide open, ears not well formed, flexion of extremities, mottled, breeched skin of the face and limbs, hyperflexion of fingers and toes, absence of opening movements of fingers⠀ ⠀ ✅Mortality in these patients is most commonly caused by sepsis, respiratory failure, or electrolyte imbalances.⠀ ⠀ ✅Early retinoid therapy and the administration of antibiotics may improve the prognosis of HI. ⠀ ⠀ ⠀ ⏩POSTNATAL DIAGNOSIS includes a skin biopsy which would presumably demonstrate structural abnormalities of lamellar granules and epidermal keratin expression. Usually the gross appearance of fetus is sufficient for diagnosis. >INITIAL MANAGEMENT includes a humidified incubator for encountering transcutaneous water loss, physiotherapy, analgesia for painful deep fissures, proper infection control, and maintenance of nutritional status. Oral retinoids, preferably acitretin, which works by shedding the hyperkeratotic encasement causing a phenotypic switch aids for increasing the survival.