Introduction: X-linked ichthyosis is an inherited disorder of keratinization due to steroid sulfatase deficiency. It may be part of a contiguous gene syndrome characterized by the presence of several clinical features including hypogonadism, Leri-Weill syndrome, short stature, chondrodysplasia punctata, mental retardation, epilepsy, Dandy-Walker malformation and ocular albinism. It is due to microdeletions of Xp22.3. We report observations of two siblings with syndromic x-linked ichthyosis.
Observation: Two brothers aged 17 and 9 years with x-linked ichthyosis diagnosed at the age of 2 years were admitted for workup of cryptorchidism. Both had bad school results. The eldest brother had short stature (−3 S.D.s compared to age-matched children) and hypogonadotroph hypogonadism with bilateral cryptorchidism but without anosmia. Bone age was delayed at 13 years. Testes were located in intra-abdominal region. The youngest brother had also bilateral cryptorchidism with microphallus. Furthermore he had an attention deficit-hyperactivity disorder. He had not short stature nor anosmia. Testes were located in intra-abdominal region too. The two patients had not neurological abnormalities and their ophtalmological examination was normal.
Conclusion: Most patients with steroid sulfatase deficiency have ichthyosis as the only clinical feature. Patients with more complex disorder or syndromic x-linked ichthyosis have a broader gene deletion or the so called contiguous gene syndrome with several genes involved. It is a heterogeneous entity with various clinical features. Although it is rare, affecting approximately 1/50 000150 000 boys and men, it deserves to be known as an earlier diagnosis may optimize the care of patient, improve the prognosis of the disease and give genetic counselling to the family.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology