title: A novel congenital ichthyosiform syndrome with associated panhypopituitarism, corneal opacities and mental retardation.
abstract: A 15-year-old male presented with ichthyosis since infancy with panhypopituitarism, short stature and knock-knees, delayed puberty, high scrotal retractile testes, mental retardation and corneal opacities. He developed recurrent tinea capitis and tinea corporis. The clinical symptomatology indicates that this case cannot be considered as a subtype of inherited ichthyosis group, but suggests a new syndrome as a separate nosologic entity. Two previously reported cases with possibly the same syndrome also had ichthyosis associated with variable endocrinopathy. Thorough endocrinological evaluation and appropriate intervention in patients of ichthyosis with short stature may reduce the morbidity associated with retarded skeletal growth and gonadal maturation.
authors.affiliation: Department of Dermatology and STD, University College of Medical Sciences, and Guru Teg Bahadur Hospital, Delhi, 110095, India.
authors.forename: Deepika
authors.initials: D
authors.lastname: Pandhi
authors.forename: Deepshikha
authors.initials: D
authors.lastname: Khanna
authors.forename: Archana
authors.initials: A
authors.lastname: Singal
authors.forename: Sri Venkata
authors.initials: SV
authors.lastname: Madhu
mesh_terms: D000293:Adolescent; D001851:Bone Diseases, Metabolic / Q000209:etiology; D003318:Corneal Opacity / Q000209:etiology* / Q000473:pathology; D006130:Growth Disorders / Q000209:etiology; D006801:Humans; D007018:Hypopituitarism / Q000209:etiology* / Q000473:pathology; D007057:Ichthyosis / Q000150:complications / Q000175:diagnosis* / Q000473:pathology / Q000628:therapy; D008607:Intellectual Disability / Q000209:etiology* / Q000473:pathology; D008297:Male; D011628:Puberty, Delayed / Q000209:etiology; D012621:Seasons; D013577:Syndrome; D014006:Tinea Capitis / Q000209:etiology; D016896:Treatment Outcome