CHILD syndrome combined linear porokeratosis in a patient with a good response to the topical lovastatin/cholesterol ointment
Background Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome is a rare X-linked dominant disorder characterized by a peculiar ichthyosiform nevus and limb defects. Linear porokeratosis (LP) is a distinct subtype of porokeratosis with hyperkeratotic nevus typically f...
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Taylor & Francis Group
2025-12-01
|
| Series: | Journal of Dermatological Treatment |
| Subjects: | |
| Online Access: | https://www.tandfonline.com/doi/10.1080/09546634.2025.2478217 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849331258483539968 |
|---|---|
| author | Kai Chen Bin Hu Qiang Chen Fei Su Liu-Qing Chen |
| author_facet | Kai Chen Bin Hu Qiang Chen Fei Su Liu-Qing Chen |
| author_sort | Kai Chen |
| collection | DOAJ |
| description | Background Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome is a rare X-linked dominant disorder characterized by a peculiar ichthyosiform nevus and limb defects. Linear porokeratosis (LP) is a distinct subtype of porokeratosis with hyperkeratotic nevus typically found on the extremities and linearly arranged along the lines of Blaschko. To our knowledge, the combination of CHILD syndrome and LP in a patient presenting inflammatory nevus on the limbs has never been reported.Patients and methods A fourteen-year-old Chinese girl presented with CHILD syndrome without limb abnormalities but with coexisting LP on her left leg and opisthenar. Clinical and laboratory examination, and Whole-Genome Sequencing (WGS) analysis of the NSDHL and PMVK gene were performed. The topical application of a compounded 2% lovastatin and 2% cholesterol ointment to skin lesions twice daily for up to 4 weeks, and treatment response was evaluated every week.Results Our patient presented with both of the clinical features of CHILD syndrome and LP. Further WGS revealed a genetic deletion in NSDHL (c.123delA, p.V42*) and a compound heterozygous mutation in the PMVK (c.88C > T, p.Q30*) gene, confirming the clinical diagnosis of our patient. Moreover, after 4 weeks of treatment, the skin lesion of the patient had displayed a good therapeutic response to the pathogenesis-directed therapy, and we didn’t observe any adverse events.Conclusions We report, for the first time in China, a case of a patient with both CHILD syndrome and LP with inflammatory nevi on the limbs. Furthermore, we provide evidence of the effectiveness of a topical lovastatin/cholesterol-based therapy for this patient. |
| format | Article |
| id | doaj-art-47e0b333666e4e869e84e392783d109c |
| institution | Kabale University |
| issn | 0954-6634 1471-1753 |
| language | English |
| publishDate | 2025-12-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Journal of Dermatological Treatment |
| spelling | doaj-art-47e0b333666e4e869e84e392783d109c2025-08-20T03:46:41ZengTaylor & Francis GroupJournal of Dermatological Treatment0954-66341471-17532025-12-0136110.1080/09546634.2025.2478217CHILD syndrome combined linear porokeratosis in a patient with a good response to the topical lovastatin/cholesterol ointmentKai Chen0Bin Hu1Qiang Chen2Fei Su3Liu-Qing Chen4Department of Dermatology, Traditional Chinese and Western Medicine Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, ChinaDepartment of Dermatology, Traditional Chinese and Western Medicine Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, ChinaDepartment of Dermatology, Traditional Chinese and Western Medicine Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, ChinaDepartment of Dermatology, Traditional Chinese and Western Medicine Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, ChinaDepartment of Dermatology, Traditional Chinese and Western Medicine Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, ChinaBackground Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome is a rare X-linked dominant disorder characterized by a peculiar ichthyosiform nevus and limb defects. Linear porokeratosis (LP) is a distinct subtype of porokeratosis with hyperkeratotic nevus typically found on the extremities and linearly arranged along the lines of Blaschko. To our knowledge, the combination of CHILD syndrome and LP in a patient presenting inflammatory nevus on the limbs has never been reported.Patients and methods A fourteen-year-old Chinese girl presented with CHILD syndrome without limb abnormalities but with coexisting LP on her left leg and opisthenar. Clinical and laboratory examination, and Whole-Genome Sequencing (WGS) analysis of the NSDHL and PMVK gene were performed. The topical application of a compounded 2% lovastatin and 2% cholesterol ointment to skin lesions twice daily for up to 4 weeks, and treatment response was evaluated every week.Results Our patient presented with both of the clinical features of CHILD syndrome and LP. Further WGS revealed a genetic deletion in NSDHL (c.123delA, p.V42*) and a compound heterozygous mutation in the PMVK (c.88C > T, p.Q30*) gene, confirming the clinical diagnosis of our patient. Moreover, after 4 weeks of treatment, the skin lesion of the patient had displayed a good therapeutic response to the pathogenesis-directed therapy, and we didn’t observe any adverse events.Conclusions We report, for the first time in China, a case of a patient with both CHILD syndrome and LP with inflammatory nevi on the limbs. Furthermore, we provide evidence of the effectiveness of a topical lovastatin/cholesterol-based therapy for this patient.https://www.tandfonline.com/doi/10.1080/09546634.2025.2478217CHILD syndromelinear porokeratosisNSDHL genePMVK genetopical therapy |
| spellingShingle | Kai Chen Bin Hu Qiang Chen Fei Su Liu-Qing Chen CHILD syndrome combined linear porokeratosis in a patient with a good response to the topical lovastatin/cholesterol ointment Journal of Dermatological Treatment CHILD syndrome linear porokeratosis NSDHL gene PMVK gene topical therapy |
| title | CHILD syndrome combined linear porokeratosis in a patient with a good response to the topical lovastatin/cholesterol ointment |
| title_full | CHILD syndrome combined linear porokeratosis in a patient with a good response to the topical lovastatin/cholesterol ointment |
| title_fullStr | CHILD syndrome combined linear porokeratosis in a patient with a good response to the topical lovastatin/cholesterol ointment |
| title_full_unstemmed | CHILD syndrome combined linear porokeratosis in a patient with a good response to the topical lovastatin/cholesterol ointment |
| title_short | CHILD syndrome combined linear porokeratosis in a patient with a good response to the topical lovastatin/cholesterol ointment |
| title_sort | child syndrome combined linear porokeratosis in a patient with a good response to the topical lovastatin cholesterol ointment |
| topic | CHILD syndrome linear porokeratosis NSDHL gene PMVK gene topical therapy |
| url | https://www.tandfonline.com/doi/10.1080/09546634.2025.2478217 |
| work_keys_str_mv | AT kaichen childsyndromecombinedlinearporokeratosisinapatientwithagoodresponsetothetopicallovastatincholesterolointment AT binhu childsyndromecombinedlinearporokeratosisinapatientwithagoodresponsetothetopicallovastatincholesterolointment AT qiangchen childsyndromecombinedlinearporokeratosisinapatientwithagoodresponsetothetopicallovastatincholesterolointment AT feisu childsyndromecombinedlinearporokeratosisinapatientwithagoodresponsetothetopicallovastatincholesterolointment AT liuqingchen childsyndromecombinedlinearporokeratosisinapatientwithagoodresponsetothetopicallovastatincholesterolointment |