title: Ichthyosis follicularis: a case report and review of the literature.
abstract: Ichthyosis follicularis (IF) is a very rare neurocutaneous, X-linked recessive condition affecting the skin, hair, eyes, and central nervous system (CNS). This report describes a child with facial dysmorphism, mental retardation, psychomotor delay, congenital alopecia of the scalp, eyebrows, and eyelashes, and extensive spiny follicular papules. A skin biopsy specimen showed the characteristic absence of sebaceous glands. We also reviewed the literature on this very rare entity. Additional findings observed in our patient, including hepatosplenomegaly, undescended testicles, and ptosis, have not been reported before.
authors.affiliation: Department of Medicine, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.
authors.forename: Abdullah
authors.initials: A
authors.lastname: Alfadley
authors.forename: Khalid
authors.initials: K
authors.lastname: Al Hawsawi
authors.forename: Khalid
authors.initials: K
authors.lastname: Al Aboud
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis; D000505:Alopecia / Q000175:diagnosis*; D002675:Child, Preschool; D002658:Developmental Disabilities / Q000503:physiopathology; D005128:Eye Diseases / Q000175:diagnosis; D005500:Follow-Up Studies; D006801:Humans; D016114:Ichthyosis, X-Linked / Q000175:diagnosis*; D008607:Intellectual Disability / Q000175:diagnosis*; D008297:Male; D011379:Prognosis; D018570:Risk Assessment; D012720:Severity of Illness Index