The Stiff Skin Syndrome

Abstract

Background: Stiff skin syndrome is a sclerodermalike disorder that presents in infancy or early childhood with rock-hard skin, limited joint mobility, and mild hypertrichosis in the absence of visceral or muscle involvement, immunologic abnormalities, or vascular hyperreactivity.Observations: We describe 6 children who fit criteria for stiff skin syndrome. A review of the clinical range of this disorder and discussion of the differential diagnosis is presented. The age at onset in our cases ranged from infancy to 6 years of age. Stony-hard skin was noted mostly on the thighs, buttocks, and lower back with shoulder and arm involvement in 2 cases. There was associated hypertrichosis in 3 of 6 cases. Extracutaneous manifestations consisted primarily of joint restriction, and several patients had resulting postural and thoracic wall ir-regularities. Histopathologically, our cases showed areas of fascial sclerosis or showed increased fibroblast cellularity with thickened, sclerotic, horizontally oriented collagen bundles in the deep reticular dermis and/or subcutaneous septa without associated inflammation.Conclusions: Stiff skin syndrome is characterized by an early, insidious onset of stony-hard skin, often with associated contracturelike joint restriction, hypertrichosis, and postural and thoracic wall abnormalities. Supportive histopathologic findings consisting of either fascial sclerosis or increased fibroblast cellularity with sclerotic collagen bundles in the deep reticular dermis and/or subcutaneous septa may help to confirm this diagnosis.

Fibrillin assemblies: extracellular determinants of tissue formation and fibrosis

“…SSS is an extremely rare congenital disease (~40 cases reported to date) that manifest in infancy or in early childhood with rock-hard skin bound firmly to the underlying tissues [83,84]. Skin manifestations are most prominently observed in areas with abundant fascia, such as the buttocks, thighs, and shoulder girdle area.…”

“…It should also be noted that histological studies have rarely assessed hypodermal tissue because this examination requires more invasive procedures [85]. Early clinical presentation of SSS often impacts skeletal growth and results in deformities such as scoliosis, a tiptoe gait, and a narrow thorax that can ultimately impair pulmonary function and lead to respiratory distress [84,88]. In most cases, the disease progresses slowly and is not fatal.…”

“…In most cases, the disease progresses slowly and is not fatal. Lack of visceral involvement, immunologic abnormalities and vascular disturbances differentiate this inherited condition from rare cases of pediatric SSc [84,89]. …”

The women behind the names: Dermatology eponyms named after women

“…It is characterized by stony-hard skin, limited joint mobility, and mild overlying hypertrichosis. Since the first report, at least 37 cases have been reported in the literature (Liu et al, 2008). …”

Pictorial review of intrathoracic manifestations of progressive systemic sclerosis

“…Limited disease is at lower risk of visceral involvement although pulmonary hypertension is more common. [2345] PSS is diffuse disease with multiorgan involvement associated with skin, and inflammatory changes. Three subgroups are described:…”