Segmental Stiff Skin Syndrome: A Rare Case Report from Indonesia
Background: This paper reports a segmental Stiff Skin Syndrome (SSS) case in a four-year-old girl. SSS is a rare disease characterized by skin hardening and joint stiffness due to a mutation of the fibrillin-1 (FBN-1) gene encoding the fibrillin protein. The effective therapies for this disease are...
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| Format: | Article |
| Language: | Indonesian |
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Department of Dermatology and Venereology, Faculty of Medicine, Universitas Airlangga
2025-03-01
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| Series: | Berkala Ilmu Kesehatan Kulit dan Kelamin (Periodical of Dermatology and Venerology) |
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| Online Access: | https://e-journal.unair.ac.id/BIKK/article/view/64495 |
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| author | Hafidzah Nurmastuti Retno Danarti Radijanti Anggraheni Intan Arvianty Devi Artami Susetiati Niken Trisnowati |
| author_facet | Hafidzah Nurmastuti Retno Danarti Radijanti Anggraheni Intan Arvianty Devi Artami Susetiati Niken Trisnowati |
| author_sort | Hafidzah Nurmastuti |
| collection | DOAJ |
| description | Background: This paper reports a segmental Stiff Skin Syndrome (SSS) case in a four-year-old girl. SSS is a rare disease characterized by skin hardening and joint stiffness due to a mutation of the fibrillin-1 (FBN-1) gene encoding the fibrillin protein. The effective therapies for this disease are limited. Case Report: The patient presented with hardened skin and a limping gait. Clinically, there were hard, hyperpigmented patches with hypertrichosis on the skin of the left femur and left gluteal. The left coxae and left genu joint were in fixed flexion, causing a limping gait. The SSS histology revealed thickened collagen fibers, trapping adipocytes between them, but no inflammatory cells. The UV-A phototherapy and physiotherapy session resulted in a modest improvement. Discussion: This case's segmental SSS diagnosis was based on clinical and histological findings. Establishing a diagnosis of SSS is a challenge for clinicians because it can resemble other skin disorders, particularly sclerosing diseases. The recommended management for SSS remains limited. In this case, after the UV-A phototherapy and physiotherapy, complaints of hardened skin were said to soften. |
| format | Article |
| id | doaj-art-e1fa86c790104966b8bcb210e576f7b2 |
| institution | OA Journals |
| issn | 1978-4279 2549-4082 |
| language | Indonesian |
| publishDate | 2025-03-01 |
| publisher | Department of Dermatology and Venereology, Faculty of Medicine, Universitas Airlangga |
| record_format | Article |
| series | Berkala Ilmu Kesehatan Kulit dan Kelamin (Periodical of Dermatology and Venerology) |
| spelling | doaj-art-e1fa86c790104966b8bcb210e576f7b22025-08-20T01:48:33ZindDepartment of Dermatology and Venereology, Faculty of Medicine, Universitas AirlanggaBerkala Ilmu Kesehatan Kulit dan Kelamin (Periodical of Dermatology and Venerology)1978-42792549-40822025-03-01371687210.20473/bikk.V37.1.2025.68-7262662Segmental Stiff Skin Syndrome: A Rare Case Report from IndonesiaHafidzah Nurmastuti0https://orcid.org/0009-0006-9122-6065Retno Danarti1https://orcid.org/0000-0001-7594-184XRadijanti Anggraheni2Intan Arvianty3Devi Artami Susetiati4Niken Trisnowati5https://orcid.org/0000-0003-4633-1078Department of Dermatology and Venereology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada, YogyakartaDepartment of Dermatology and Venereology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada, YogyakartaDepartment of Dermatology and Venereology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada, YogyakartaDepartment of Dermatology and Venereology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada, Yogyakarta – IndonesiaDepartment of Dermatology and Venereology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada, YogyakartaDepartment of Dermatology and Venereology, Faculty of Medicine, Public Health, and Nursing, Universitas Gadjah Mada, YogyakartaBackground: This paper reports a segmental Stiff Skin Syndrome (SSS) case in a four-year-old girl. SSS is a rare disease characterized by skin hardening and joint stiffness due to a mutation of the fibrillin-1 (FBN-1) gene encoding the fibrillin protein. The effective therapies for this disease are limited. Case Report: The patient presented with hardened skin and a limping gait. Clinically, there were hard, hyperpigmented patches with hypertrichosis on the skin of the left femur and left gluteal. The left coxae and left genu joint were in fixed flexion, causing a limping gait. The SSS histology revealed thickened collagen fibers, trapping adipocytes between them, but no inflammatory cells. The UV-A phototherapy and physiotherapy session resulted in a modest improvement. Discussion: This case's segmental SSS diagnosis was based on clinical and histological findings. Establishing a diagnosis of SSS is a challenge for clinicians because it can resemble other skin disorders, particularly sclerosing diseases. The recommended management for SSS remains limited. In this case, after the UV-A phototherapy and physiotherapy, complaints of hardened skin were said to soften.https://e-journal.unair.ac.id/BIKK/article/view/64495fibrillinfibrosishardened skinjoint contracturesstiff skin syndrome |
| spellingShingle | Hafidzah Nurmastuti Retno Danarti Radijanti Anggraheni Intan Arvianty Devi Artami Susetiati Niken Trisnowati Segmental Stiff Skin Syndrome: A Rare Case Report from Indonesia Berkala Ilmu Kesehatan Kulit dan Kelamin (Periodical of Dermatology and Venerology) fibrillin fibrosis hardened skin joint contractures stiff skin syndrome |
| title | Segmental Stiff Skin Syndrome: A Rare Case Report from Indonesia |
| title_full | Segmental Stiff Skin Syndrome: A Rare Case Report from Indonesia |
| title_fullStr | Segmental Stiff Skin Syndrome: A Rare Case Report from Indonesia |
| title_full_unstemmed | Segmental Stiff Skin Syndrome: A Rare Case Report from Indonesia |
| title_short | Segmental Stiff Skin Syndrome: A Rare Case Report from Indonesia |
| title_sort | segmental stiff skin syndrome a rare case report from indonesia |
| topic | fibrillin fibrosis hardened skin joint contractures stiff skin syndrome |
| url | https://e-journal.unair.ac.id/BIKK/article/view/64495 |
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