Chapter 33 - A Syndrome of Anosmia, Ichthyosis, and Hypogonadism with Steroid Sulfatase and Arylsulfatase C Deficiencies

Abstract

This chapter presents a case study on three male patients in a family with congenital anosmia, ichthyosis, and hypogonadotropic hypogonadism. All three patients had borderline IQs, mirror movements of the hands and feet, and ocular manifestations that included congenital nystagmus, strabismus, hypoplastic optic discs with decreased visual acuity, and hypopigmentation of the irides. Two patients had unilateral renal agenesis or hypogenesis and one patient had preauricular pits. Enzymatic study of the leukocytes and skin fibroblasts revealed steroid sulfatase and arylsulfatase C deficiencies. It was seen that ichthyosis was generalized with large dark scales present over the surface of the skin except on the palms and soles. It was noted during the first week of life, increased with age, and worsened in winter. Skin pathology disclosed marked hyperkeratosis and an increased granular layer. Congenital ichthyosis, hypogonadism, and anosmia have been seen as a part of various syndromes. Patients with multiple sulfatase deficiency are frequently associated with ichthyosis.