TY - JOUR
T1 - Segmental stiff skin syndrome (SSS)
T2 - A distinct clinical entity
AU - Myers, Kathryn L.
AU - Mir, Adnan
AU - Schaffer, Julie V.
AU - Meehan, Shane A.
AU - Orlow, Seth J.
AU - Brinster, Nooshin K.
N1 - Publisher Copyright:
© 2016 American Academy of Dermatology, Inc.
PY - 2016/7/1
Y1 - 2016/7/1
N2 - Background Stiff skin syndrome (SSS) is a noninflammatory, fibrosing condition of the skin, often affecting the limb girdles. Objective We present 4 new patients with SSS with largely unilateral, segmental distribution. To date, reported cases of SSS have been grouped based on generally accepted clinical and histopathologic findings. The purpose of this study was to analyze differences in clinical and histopathologic findings between previously reported SSS cases. Methods This is a retrospective review of 4 new cases and 48 previously published cases of SSS obtained from PubMed search. Results Of 52 total cases, 18 (35%) were segmentally distributed and 34 (65%) were widespread. The average age of onset was 4.1 years versus 1.6 years for segmental versus widespread SSS, respectively. Limitation in joint mobility affected 44% of patients with segmental SSS and 97% of patients with widespread SSS. Histopathologic findings were common between the 2 groups. Limitations This was a retrospective study of previously published cases limited by the completeness and accuracy of the reviewed cases. Conclusions We propose a distinct clinical entity, segmental SSS, characterized by a segmental distribution, later age of onset, and less severe functional limitation. Both segmental SSS and widespread SSS share common diagnostic histopathologic features.
AB - Background Stiff skin syndrome (SSS) is a noninflammatory, fibrosing condition of the skin, often affecting the limb girdles. Objective We present 4 new patients with SSS with largely unilateral, segmental distribution. To date, reported cases of SSS have been grouped based on generally accepted clinical and histopathologic findings. The purpose of this study was to analyze differences in clinical and histopathologic findings between previously reported SSS cases. Methods This is a retrospective review of 4 new cases and 48 previously published cases of SSS obtained from PubMed search. Results Of 52 total cases, 18 (35%) were segmentally distributed and 34 (65%) were widespread. The average age of onset was 4.1 years versus 1.6 years for segmental versus widespread SSS, respectively. Limitation in joint mobility affected 44% of patients with segmental SSS and 97% of patients with widespread SSS. Histopathologic findings were common between the 2 groups. Limitations This was a retrospective study of previously published cases limited by the completeness and accuracy of the reviewed cases. Conclusions We propose a distinct clinical entity, segmental SSS, characterized by a segmental distribution, later age of onset, and less severe functional limitation. Both segmental SSS and widespread SSS share common diagnostic histopathologic features.
KW - Adipocyte entrapment
KW - Congenital fascial dystrophy
KW - Fibrillin-1
KW - Fibrosis
KW - Segmental stiff skin syndrome
KW - Stiff skin syndrome
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U2 - 10.1016/j.jaad.2016.01.038
DO - 10.1016/j.jaad.2016.01.038
M3 - Article
C2 - 26944597
AN - SCOPUS:84959419706
SN - 0190-9622
VL - 75
SP - 163
EP - 168
JO - Journal of the American Academy of Dermatology
JF - Journal of the American Academy of Dermatology
IS - 1
ER -