Two Cases of Schimmelpenning Syndrome
Schimmelpenning syndrome is a rare variant of epidermal nevus syndromes that manifests with nevus sebaceous and multi-organ abnormalities. Here, we present two cases illustrating its diverse clinical manifestations. A 3-year-old girl has a large sebaceous nevus on her scalp and face, along with seiz...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2025-01-01
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| Series: | Clinical Dermatology Review |
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| Online Access: | https://journals.lww.com/10.4103/cdr.cdr_22_24 |
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| author | Aniruddha Gulanikar Aruna Gunreddy |
| author_facet | Aniruddha Gulanikar Aruna Gunreddy |
| author_sort | Aniruddha Gulanikar |
| collection | DOAJ |
| description | Schimmelpenning syndrome is a rare variant of epidermal nevus syndromes that manifests with nevus sebaceous and multi-organ abnormalities. Here, we present two cases illustrating its diverse clinical manifestations. A 3-year-old girl has a large sebaceous nevus on her scalp and face, along with seizures and transient ischemic attacks. Examination and tests reveal coarctation of the aorta, eyelid colobomas, and other findings. The second case involves a 3-month-old girl with nevus sebaceous on her scalp and face. Tests and examinations showed she has an atrial septal defect and microcornea. A skin biopsy confirmed the diagnosis of nevus sebaceous. These cases emphasize the importance of thorough clinical examination and investigations in individuals with extensive nevus sebaceous. A review of the literature indicates that cardiovascular involvement in Schimmelpenning syndrome is relatively uncommon. |
| format | Article |
| id | doaj-art-130382ea8030446f9be2f2eda6937127 |
| institution | Kabale University |
| issn | 2542-551X 2542-5528 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Clinical Dermatology Review |
| spelling | doaj-art-130382ea8030446f9be2f2eda69371272025-02-06T05:07:41ZengWolters Kluwer Medknow PublicationsClinical Dermatology Review2542-551X2542-55282025-01-0191838710.4103/cdr.cdr_22_24Two Cases of Schimmelpenning SyndromeAniruddha GulanikarAruna GunreddySchimmelpenning syndrome is a rare variant of epidermal nevus syndromes that manifests with nevus sebaceous and multi-organ abnormalities. Here, we present two cases illustrating its diverse clinical manifestations. A 3-year-old girl has a large sebaceous nevus on her scalp and face, along with seizures and transient ischemic attacks. Examination and tests reveal coarctation of the aorta, eyelid colobomas, and other findings. The second case involves a 3-month-old girl with nevus sebaceous on her scalp and face. Tests and examinations showed she has an atrial septal defect and microcornea. A skin biopsy confirmed the diagnosis of nevus sebaceous. These cases emphasize the importance of thorough clinical examination and investigations in individuals with extensive nevus sebaceous. A review of the literature indicates that cardiovascular involvement in Schimmelpenning syndrome is relatively uncommon.https://journals.lww.com/10.4103/cdr.cdr_22_24cardiovascularmental retardationnevus sebaceousschimmelpenning syndromeseizures |
| spellingShingle | Aniruddha Gulanikar Aruna Gunreddy Two Cases of Schimmelpenning Syndrome Clinical Dermatology Review cardiovascular mental retardation nevus sebaceous schimmelpenning syndrome seizures |
| title | Two Cases of Schimmelpenning Syndrome |
| title_full | Two Cases of Schimmelpenning Syndrome |
| title_fullStr | Two Cases of Schimmelpenning Syndrome |
| title_full_unstemmed | Two Cases of Schimmelpenning Syndrome |
| title_short | Two Cases of Schimmelpenning Syndrome |
| title_sort | two cases of schimmelpenning syndrome |
| topic | cardiovascular mental retardation nevus sebaceous schimmelpenning syndrome seizures |
| url | https://journals.lww.com/10.4103/cdr.cdr_22_24 |
| work_keys_str_mv | AT aniruddhagulanikar twocasesofschimmelpenningsyndrome AT arunagunreddy twocasesofschimmelpenningsyndrome |