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). Probable autosomal
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.
Stiff Skin Syndrome: Characterized by 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.
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
Cat I, Rodrigues-Magdalena NI, Parolin-Marinoni L, et al: Parana
hard-skin syndrome: Study of seven families. Lancet I:215, 1974.
Mau U, Kendziorra H, Kaiser P, et al: Restrictive dermopathy: Report and
review. Am J Med Genet 71(2):179, 1997.