Harlequin ichthyosis (or harlequin fetus)
نویسندگان
چکیده مقاله:
The pat ient was a female neonate bor n prematurely on 36 weeks of gestation by normal vaginal delivery. During pregnancy, mother had no history of fever, drug use or x-ray exposure. The mother was gravida 2 and had no history of abortion. Her first baby was well. On physical examination, the skin was markedly thickened, hard and hyperkeratotic with deep crevices running transversely and vertically. She had ectropion and the globe was abnormal. The ears and nose were underdeveloped, flattened and distorted and the lips were everted and gaping (fish-mouth). Extreme inelasticity of the skin with flexion deformity of all joints was noted. The hand and foot were hard and waxy in appearance, with poorly developed distal digits (Figure 1,2). She had respiratory distress, was ill and sucked poorly. Harlequin ichthyosis (or harlequin fetus) is a rare but very severe disorder of keratinization. Inheritance is likely autosomal recessive, but new autosomal dominant mutations are possible 1. The genetic abnormality in harlequin ichthyosis has been identified as a mutation in the lipid-transporter gene ABCA12 on chromosome 2. In harlequin ichthyosis, the ABCA12 -mediated transfer of lipid to lamellar granules is absent 2. The skin of the affected infants is markedly thickened, hard (armor-like), and hyperkeratotic, with deep crevices running transversely and vertically (Figure 1). The fissures are most prominent over areas of flexion. Rigidity of the skin around the eyes results in marked ectropion, although the globe is usually normal; however, our patient had ectropion with an abnormal globe (Figure 2). The ears and nose are underdeveloped, flattened, and distorted, and the lips are everted and gaping, producing a “fish-mouth” deformity. The nails and hair are hypoplastic or absent. Extreme inelasticity of the skin is associated with flexion deformity of all joints. The hands and feet are ischemic, hard, and waxy in appearance, with poorly developed distal digits 3. Affected neonates have respiratory difficulty, suck poorly, and are subject to severe cutaneous infection 4. Common histopathological abnormalities include hyperkeratosis, accumulation of lipid droplets within corneocytes, and absence of normal lamellar granules 1,5. Prenatal diagnosis has been accomplished by fetoscopy, fetal skin biopsy, and microscopic examination of cells from amniotic fluid taken at the 17th and 21st weeks of gestation 6. We confirmed diagnosis in this report by ultrasound in the prenatal period and clinical findings during the neonatal period. Suspicion in this case was aroused only with findings of a persistently open mouth and fixed flexion deformities on two dimensional sonography whereas three dimensional sonography may disclose facial features more commonly associated with the condition, echogenic amniotic fluid, short foot length and fixed flexion deformity. Initial treatment includes high fluid intake to avoid dehydration from transepidermal water loss and use of a humidified heated incubator, emulsifying ointments, careful attention to hygiene, and oral retinoids 4. Unfortunately, our patient died because of sepsis.
منابع مشابه
Harlequin ichthyosis: Case report
Harlequin fetus is a rare and the most severe form of the congenital ichthyosis with an autosomal recessive inheritance. Incidence of the disease is nearly 1 in 3,00,000 live births. The disease might be lethal at birth and the affected babies are often premature. Harlequin ichthyosis (HI) is marked by severe keratinized and alligator-like horned skin. The present study reports a new case with ...
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Ichthyosis is a very heterogeneous family of skin disorders with harlequin ichthyosis being the most severe genetic form. It is a rare autosomal recessive condition, characterized by dry, severely thickened skin with large plates of hyperkeratotic scale, separated by deep fissures. Infants are very susceptible to metabolic abnormalities and infections. They usually do not survive for very long,...
متن کاملHarlequin ichthyosis: A rare case
Harlequin ichthyosis 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 due to mutations in adenosine triphosphate binding cassette A12 gene transmitted as an autosomal recessive disorder. The prognosis is very poor in these cases. Here, we report one such rare ...
متن کاملHarlequin ichthyosis in two siblings.
Harlequin ichthyosis is a rare and extremely severe form of congenital ichthyosis. The affected neonates usually do not survive beyond first few days after birth, but several long-term survivals have been noted. The inheritance is thought to be autosomal recessive. It has recently been shown that the vast majority of affected individuals are homozygous for mutations in the ABCA12 gene, which ca...
متن کاملharlequin ichthyosis
it is an autosomal recessive, and occasionally autosomal dominant mutant extremely rare disorder with only 100 reported case in literature. this fatal disorder occur in both sexes and all races. in most circumstances the newborn die soon after birth also it is known as harlequin fetus, alligator baby or keratosis diffusa fatalis. because of its rarity, we report 2 cases of this disorder, here.
متن کاملHarlequin ichthyosis: The third babies with harlequin ichthyosis in a family.
A female baby who was born by normal vaginal delivery with a birth weight of 2 600 g at the 34th gestational age as the third living baby from the fifth pregnancy of a 32-year old woman was admitted to the neonatal intensive care unit. No consanguineous marriage was reported in the familial history. It was learned that the patient had a healthy brother and a sister, but her two sisters were los...
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عنوان ژورنال
دوره 13 شماره 4
صفحات 144- 145
تاریخ انتشار 2010-12-01
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