Segmental stiff skin syndrome (SSS): Clinical case and a brief review

Cerejeira, Diogo; Bonito, Frederico; António, Ana Marta; Cunha, Henriqueta

doi:10.1111/ajd.13589

Cited by 10 publications

(13 citation statements)

References 11 publications

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“…Two patients showed hypertrichosis, none had epidermal changes. While segmental variants are less common (a third of previously published cases), 8,9 our cohort displayed segmental and linear lesions affecting the pelvic/shoulder girdle. Bilateral sclerotic skin changes occurred in 36%, higher compared to previous publications.…”

Section: Treatmentmentioning

confidence: 47%

Characteristics and onset of presentation of pediatric stiff skin syndrome: A retrospective cohort study of 11 patients in a tertiary care center

Sanchez‐Espino,

Sibbald,

Stimec

et al. 2023

Pediatric Dermatology

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Background/ObjectiveStiff skin syndrome (SSS) is a rare disorder characterized by “rock hard” indurated skin affecting different body parts. The localized variant poses a diagnostic challenge, as it is frequently mistaken for other inflammatory connective tissue disorders. The aim of this study is to provide insightful clinical, radiologic and diagnostic data that might prove useful for the evaluation, management and treatment of pediatric patients with segmental SS.MethodsThis single‐center cohort study included patients ≤18 years diagnosed with localized SSS from 1988 to 2021 in a quaternary pediatric healthcare center in Toronto, Canada. Data included demographics, clinical, histopathologic and radiologic features, treatments, and clinical course. Data were summarized with descriptive statistics (mean, standard deviation, medians, interquartile ranges [IQRs]) and frequencies.ResultsA total of 11 patients were included. The sclerotic changes were measured clinically and radiologically, by a total of 16 imaging studies: 13 magnetic resonance imaging (MRI) and 3 ultrasound. MRI readings showed abnormal high signal intensity of the affected tissue correlating with the anatomical site of involvement in all cases, specifically, in the shoulder/pelvic girdle with limb extension. Shear wave ultrasound elastography (SWE) demonstrated higher values within the dermis compared to the control site.ConclusionThe presence of segmental sclerotic changes that affects the pelvic/shoulder girdle with extension to the extremities, in the absence of inflammation on biopsy and abnormal signaling intensity on imaging is suggestive of SSS. Skin SWE is a feasible, noninvasive, and objective instrument to evaluate and monitor sclerotic changes overtime, it could be potentially extrapolated to other pediatric skin sclerotic conditions.

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Section: Treatmentmentioning

confidence: 47%

Characteristics and onset of presentation of pediatric stiff skin syndrome: A retrospective cohort study of 11 patients in a tertiary care center

Sanchez‐Espino,

Sibbald,

Stimec

et al. 2023

Pediatric Dermatology

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“…Apparently bilateral involvement in our case excluded the diagnosis of segmental SSS, 3 but clinical manifestation could not safely distinguish widespread SSS from CFD 10 . Impaired joint morbidity in SSS is secondary to skin induration, while reduction in size of gluteus muscle in our case was considered to be a result of lacking rehabilitation training and disuse atrophy 30 . In subsets other than CFD, characteristics of skin biopsy includes thickened collagen bundles, lack of inflammation, increased connective tissue, adipocyte entrapment and various mucin deposition in dermis 3 .…”

Section: Discussionmentioning

confidence: 62%

“…10 Impaired joint morbidity in SSS is secondary to skin induration, while reduction in size of gluteus muscle in our case was considered to be a result of lacking rehabilitation training and disuse atrophy. 30 In subsets other than CFD, characteristics of skin biopsy includes thickened collagen bundles, lack of inflammation, increased connective tissue, adipocyte entrapment and various mucin deposition in dermis. 3 According to pathologic information in our case, diagnosis of CFD was excluded.…”

Section: Discussionmentioning

confidence: 99%

Classification and rising medication therapy in stiff skin syndrome: A case report and literature review

Lin

Pei

Tang

et al. 2022

Dermatologic Therapy

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Stiff skin syndrome (SSS) is a rare disorder characterized by skin induration and limited joint mobility in the absence of visceral, musculoskeletal, vascular, or immunologic abnormalities. Distinctive subsets of SSS could be distinguished by various manifestation and mechanism, which accounts for the high heterogeneity in SSS cases. Although rehabilitation training remains the mainstay of management, rising medications has drawn awareness in recent years, owing to the potential efficacy. Nevertheless, experience was limited, especially in widespread SSS. We report on a 5‐year‐old girl with widespread SSS, whose lesion stopped progressing after combination therapy by mycophenolic acid (MPA) and losartan (LST) in addition to rehabilitation exercise. Despite limited experience, a combined therapy of MPA and LST seems to be effective in retarding progression of widespread SSS.

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“…It often occurs in areas with rich fascia, such as buttocks and thighs. Extracutaneous features are also common, including abnormal gait and posture, joint contractures, and restricted movement of chest and abdomen . The cause and pathogenesis of SSS is obscure, although it has recently been reported to be associated with primary fibroblast disorder, primary fascial dystrophy, or heterozygous mutations in the FBN1 gene …”

Section: Discussionmentioning

confidence: 99%