title: Isotretinoin treatment of autosomal recessive congenital ichthyosis complicated by coexisting dysferlinopathy.
abstract: Consanguinity is known to be associated with an increase in the prevalence of autosomal recessive disorders such as autosomal recessive congenital ichthyosis (ARCI). ARCI often responds well to retinoid treatment. We describe a patient with ARCI who improved under isotretinoin treatment. The patient subsequently developed elevated levels of serum creatinine phosphokinase (CPK), which led to the diagnosis of a second autosomal recessive disorder, dysferlinopathy, a rare myopathy characterized by muscle weakness, decreased tendon reflexes and marked elevation of CPK levels. This report demonstrates the need for physicians to remain alert to the possible coexistence of rare and mutually relevant disorders in populations with a high rate of consanguinity.
authors.affiliation: Department of Dermatology, Dana Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.|Pediatric Dermatology Unit, Dana Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
authors.forename: J
authors.initials: J
authors.lastname: Mashiah
authors.affiliation: Pediatric Dermatology Unit, Dana Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
authors.forename: A
authors.initials: A
authors.lastname: Harel
authors.affiliation: Dermatology Clinic, Nahariya Western Galilee Hospital, Nahariya, Israel.
authors.forename: O
authors.initials: O
authors.lastname: Bitterman
authors.affiliation: Pediatric Neurology Unit, Dana Children's Hospital, Tel Aviv, Israel.|Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: L
authors.initials: L
authors.lastname: Sagi
authors.affiliation: Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.|Department of Pathology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
authors.forename: A
authors.initials: A
authors.lastname: Gat
authors.affiliation: Department of Pathology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: Y
authors.initials: Y
authors.lastname: Fellig
authors.affiliation: Genetic Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
authors.forename: S
authors.initials: S
authors.lastname: Ben-Shachar
authors.affiliation: Department of Dermatology, Dana Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.|Pediatric Dermatology Unit, Dana Children's Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.|Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
authors.forename: E
authors.initials: E
authors.lastname: Sprecher
mesh_terms: D000293:Adolescent; D000410:Alanine Transaminase / Q000097:blood; D018912:Arabs; D001219:Aspartate Aminotransferases / Q000097:blood; D003241:Consanguinity; D003402:Creatine Kinase; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D016113:Ichthyosiform Erythroderma, Congenital / Q000188:drug therapy* / Q000235:genetics*; D017490:Ichthyosis, Lamellar / Q000188:drug therapy* / Q000235:genetics; D015474:Isotretinoin / Q000009:adverse effects* / Q000627:therapeutic use*; D007645:Keratoderma, Palmoplantar; D049288:Muscular Dystrophies, Limb-Girdle / Q000151:congenital* / Q000235:genetics*; D063806:Myalgia / Q000209:etiology
chemical_list: D001219:Aspartate Aminotransferases; D000410:Alanine Transaminase; D003402:Creatine Kinase; D015474:Isotretinoin