A very rare syndrome, often lethal in childhood and characterized by a total skin thickening leading to restricted joint mobility and respiratory insufficiency that may lead to death.
Hard Skin Syndrome, Parana Type.
Very rare syndrome with geographical influence (Southern Parana region in Brazil). Only eight patients in seven families are described.
Probable autosomal recessive inheritance.
Onset in the first months of life. Generalized thickening of skin and severe growth retardation are the main features. Other signs involve skin and hair (hyperkeratosis, increased pigmentation, increased body hair, bushy eyebrows), face (round face with down-turned mouth), musculoskeletal (abnormal gait, restricted joint mobility, osteoporosis, tapered fingers), and chest (pectus carinatum, abnormally placed nipples, respiratory distress).
Movement limitations because of skin thickening affect whole body and necessitate, probably, a preoperative evaluation of the airway (difficulty of neck extension) and respiratory function (clinical, radiographs, pulmonary function test with arterial blood gases analysis). Postoperative ventilatory support might be necessary. Both venous access and regional anesthesia can be difficult because of skin thickening. Careful intraoperative positioning is needed but can be difficult to realize.
Other conditions to be considered
Stiff Skin Syndrome: Very rare autosomal dominant disease characterized by progressive, noninflammatory skin fibrosis leading to thickened and indurated skin of the entire body and limitation of joint mobility with flexion contractures. Flexion deformities of fingers and toes, limited motion of several other joints and the vertebral column, sclerodermatoid changes of the skin, and underdeveloped muscles. Considerable overlap with ☞Parana Hard Skin Syndrome.
Syndesmodysplasic Dwarfism: Characterized by severe dwarfism and progressive stiff joints, including spine and hips. The skin is, however, considered normal. It has been reported in Berber people of northern Algeria.
et al: Stiff skin syndrome versus scleroderma: A report of two cases. Clin Rheumatol
et al: Parana hard-skin syndrome: Study of seven families. Lancet I:215, 1974.
et al: Restrictive dermopathy: Report and review. Am J Med Genet