title: Stiff skin syndrome: a case report and review of the literature.
abstract: Stiff skin syndrome (SSS) is a rare disorder characterized by stony-hard skin, limited joint mobility and mild hypertrichosis. We present a severe case in a 4-year-old boy. In addition to the clinical and histological features of SSS, our patient also had muscle and bone involvement along with pyloric stenosis, gastro-esophageal reflux, inguinal hernias and atopic dermatitis. We highlight the complexity of this case and the diagnostic approach to patients with this disorder. We also review and summarize the 24 cases previously reported in the literature.
authors.affiliation: Department of Dermatology, Hospital Infantil Niño Jesús, Madrid, Spain.
authors.forename: Y
authors.initials: Y
authors.lastname: Gilaberte
authors.forename: M C
authors.initials: MC
authors.lastname: Sáenz-de-Santamaria
authors.forename: F J
authors.initials: FJ
authors.lastname: García-Latasa
authors.forename: I
authors.initials: I
authors.lastname: González-Mediero
authors.forename: A
authors.initials: A
authors.lastname: Zambrano
mesh_terms: D002675:Child, Preschool; D003876:Dermatitis, Atopic / Q000473:pathology; D005764:Gastroesophageal Reflux / Q000473:pathology; D006552:Hernia, Inguinal / Q000473:pathology; D006801:Humans; D006983:Hypertrichosis / Q000473:pathology; D007592:Joint Diseases / Q000473:pathology; D008297:Male; D011707:Pyloric Stenosis / Q000473:pathology; D012871:Skin Diseases / Q000473:pathology*; D013577:Syndrome