Prenatal diagnosis of Comel-Netherton syndrome with PGD, case report and review article

Abstract

Introduction Comel-Netherton syndrome (C-NS) is an autosomal recessive disorder of the skin, hair and immune system first reported by Comel in 1949 and Netherton in 1958 (1, 2). This syndrome presents at or soon after birth with generalized erythroderma, scaling, and/or continuous peeling of the skin resembling nonbulloous congenital ichthyosiform erythroderma or peeling skin syndrome. In the neonatal period, 20% of the babies suffer from hypernatremic dehydration, electrolyte imbalances, perturbed thermoregulation, failure to thrive and recurrent infections which may result in neonatal demise [3–5]. The skin lesions are often pruritic, resemble atopic eczema, and show an unstable, undulating course. They are usually accompanied by hair shaft abnormalities that develop during early childhood and may result in diffuse alopecia. The hallmark of C-NS is trichorrhexis invaginata (bamboo hair), but other abnormalities, including pili torti (twisted hair) and trichorrhexis nodosa (hair of varying diameter) have been observed. Markedly elevated IgE levels, allergic reactions to food and common antigens, malnutrition, and increased susceptibility to skin, respiratory tract or systemic infections are also characteristic [6, 7]. There are nearly 150–160 cases of C-NS reported in the literature, its incidence might be 1/200.000 [6] due to challenging diagnostic problems during infancy and early childhood. This syndrome has overlapping features with atopic dermatitis and other recessive ichthyosis. Most patients with C-NS are sporadic cases however, there are reports of affected siblings and of consanguinity in about 10% of the families with C-NS which is common in autosomal recessive inheritance [8–10]. In this study, we present two consanguineous Turkish families (two sisters married with two brothers) of prenatal diagnosis of Netherton syndrome and successful intracytoplasmic sperm injection (ICSI) pregnancies using PGD and a review of literature. To our knowledge, this is the first report of PGD and ICSI in Comel-Netherton syndrome