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

Excerpt

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]. …