Stiff-skin syndrome.
It is the purpose of this paper to present the case of a patient who came to our observation because of the occurrence of non-elastic hardening of the skin (stone hard skin) and of the subcutaneous tissue that began during early childhood. The parents reported having observed the gradual functional limitation of numerous joints with asymmetrical distribution, more evident in the elbow and the right scapulohumeral joint. There were no signs of involvement of the internal organs; hematologic testing was normal. Described for the first time in 1971 by Esterly nd McKusik and called stiff skin syndrome (SSS), this is a rare genetic alteration characterized by hardening of the skin and subcutaneous tissue associated with gradual joint stiffness and, at times, hirsutism. Generally, there are no modifications in the internal organs or in the musculoskeletal structures; anomalies of the immune system are not described. Modifications are manifested during early childhood causing gradual functional limitation of the hips and knees, with consequent difficulty related to posture and walking. Deficit in the upper limbs is less important. The literature describes about 25 cases with little incidence of familiarity; etiopathogenesis is unknown.
Ferrari
D
D
Divisione di Ortopedia e Traumatologia Pediatrica, Istituto Ortopedico Rizzoli, Bologna, Italy.
Rossi
R
R
Donzelli
O
O
D000293:Adolescent; D001706:Biopsy; D006801:Humans; D008297:Male; D012595:Scleroderma, Systemic / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000628:therapy; D012867:Skin / Q000473:pathology*; D013577:Syndrome