Harlequin Ichthyosis in a 4-year-old male: Case report

@#Harlequin ichthyosis (HI) is a rare type of congenital keratinization disorder that, when left untreated, usually leads to early neonatal demise. A clinical diagnosis of HI is considered when a patient presents with thick plate-like scaling of the skin together with eclabium, ectropion, and nasal hypoplasia. The diagnosis can be confirmed by genetic testing to determine mutation in the adenosine triphosphate-binding cassette A12 (ABCA12) gene. Early administration of systemic retinoids to promote desquamation and emollients to control excessive scaling and dryness of the skin lead to better prognosis in most cases of HI. We present the case of a 4-year-old male with HI who has been successfully managed with bland emollients and systemic acitretin therapy, which we started when he was 1 year old.

Harlequin Ichthyosis in a 4-year-old male: Case report

@#Harlequin ichthyosis (HI) is a rare type of congenital keratinization disorder that, when left untreated, usually leads to early neonatal demise. A clinical diagnosis of HI is considered when a patient presents with thick plate-like scaling of the skin together with eclabium, ectropion, and nasal hypoplasia. The diagnosis can be confirmed by genetic testing to determine mutation in the adenosine triphosphate-binding cassette A12 (ABCA12) gene. Early administration of systemic retinoids to promote desquamation and emollients to control excessive scaling and dryness of the skin lead to better prognosis in most cases of HI. We present the case of a 4-year-old male with HI who has been successfully managed with bland emollients and systemic acitretin therapy, which we started when he was 1 year old.

Bilateral ectropion in a 3 months old baby with lamellar ichthyosis: a rare case report.

Ichthyosiform dermatoses are a group of hereditary disorders characterized by dryness and roughness of the skin with excessive accumulation of epidermal scales. Four main types of Ichthyosis are Ichthyosis vulgaris, x-linked recessive, lamellar ichthyosis and epidermolytic hyperkeratosis. Lamellar ichthyosis is the rarest form with an incidence of 1 in 3, 00,000. It has autosomal recessive inheritance. Ocular manifestations include exposure keratitis secondary to ectropion, unilateral megalocornea, and enlarged corneal nerve, and blepharitis, absence of the meibomian gland, trichiasis, madarosis and absence of lacrimal puncta. Ectropion of both upper and lower lids have been documented. We are reporting a rare case of lamellar ichthyosis with bilateral upper eyelid ectropion in a child.