Collodion baby - Presentation of a rare form of familial lamellar ichthyosis

Abstract

We present the case of a male infant who was born at 38th gestational week and who was the product of nonconsanguineous marriage and vaginal delivery. There was no family history of skin diseases in the parents, but the older sister also had lamellar ichthyosis. The mother received regular prenatal care. Spontaneous rupture of membranes occurred approximately 2 hours prior to the delivery. Apgar scores were 7/7 at 1st and 5th minute. The baby’s weight was 3410 grams, body length was 54 cm and head circumference was 35 cm. Upon the initial physical examination, the patient was presented with a thin collodion membrane that was found over the majority of his skin surface. The skin was dry, shining with yellow-brownish membrane and cracks in the neck region and on the skin ridges. There was also a severe outer distortion of both eyes (ectropia) and lips (eclabium), and ear lobes were small and poorly modelled. Laboratory аnd biochemistry analyses were appropriate for the patient’s age. Serological diagnosis was established by increased IgG antibody titer for Rubella and Citomegalovirus. Other serologic tests were negative. With swab of the skin we were able to extract Enterococcus species, Klebsiela-Enterobacter and Pseudomonas species. Pathohistological finding of skin biopsy showed lamellar type hyperkeratosis, thickened granular layer with elongated epidermal rungs toothed type. In the upper dermis, immature hair follicles and low level perivascular lymphocytic infiltrate were observed. Cytogenetic analysis of peripheral blood lymphocytes showed a normal male karyotype.