Hypertrichosis associated with the use of C-type natriuretic peptide analogue: a case report
Abstract Background Achondroplasia is the most common form of disproportionate skeletal dysplasia. Recently, C-type natriuretic peptide analogue (vosoritide) was approved in numerous countries to increase annual growth velocity in patients with achondroplasia with open plates. This is a case report...
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BMC
2025-04-01
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| Series: | Journal of Medical Case Reports |
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| Online Access: | https://doi.org/10.1186/s13256-025-05231-0 |
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| author | Juan Llerena Clinton Tatiana Sa Pacheco Carneiro Magalhaes Ana Paula Bordallo Paulo Ferrez Collett-Solberg |
| author_facet | Juan Llerena Clinton Tatiana Sa Pacheco Carneiro Magalhaes Ana Paula Bordallo Paulo Ferrez Collett-Solberg |
| author_sort | Juan Llerena Clinton |
| collection | DOAJ |
| description | Abstract Background Achondroplasia is the most common form of disproportionate skeletal dysplasia. Recently, C-type natriuretic peptide analogue (vosoritide) was approved in numerous countries to increase annual growth velocity in patients with achondroplasia with open plates. This is a case report highlighting an atypical adverse event in a group of patients with achondroplasia using vosoritide for at least 3 months. This adverse event is reported for the first time in the literature. Among all vosoritide clinical trials, hypertrichosis was not described as a side effect. Case presentation The study included a total of 18 patients, all of whom were from Brazil. Among these patients, 16 identified as White, specifically Latin Americans of European descent, while the remaining 2 identified as being of African descent. All patients exhibited typical clinical features of achondroplasia, which were confirmed by the presence of the most common pathogenic variant in the FGFR3 gene, c.1138G>A (p.Gly380Arg). Out of 18 patients (11 girls and 7 boys) ranging in age from 2 to 10 years, 11 developed hypertrichosis (8 girls and 3 boys). Out of the 18 patients (61.1%) receiving regular subcutaneous vosoritide, 11 developed hypertrichosis, characterized by pigmented, thin, and short hair on the face, arms, abdomen, back, and legs. Hypertrichosis was clinically diagnosed by experienced pediatric endocrinologists. None of the patients exhibited signs of virilization, advanced bone age, or elevated androgen levels. The hypertrichosis resolved after discontinuation of treatment. Conclusions This unexpected pharmacological event, observed in a real-world setting, should be discussed with families prior to initiating treatment. Although hypertrichosis was not previously reported in clinical trials, it was not considered a serious adverse event. Further real-world data are needed to support therapeutic decisions and set appropriate expectations for families, patients, and healthcare providers. Additional evidence is required to better understand the pathophysiology underlying this phenomenon. In some cases, this undesirable adverse effect may influence clinical decision-making regarding treatment. |
| format | Article |
| id | doaj-art-bca85381a28c4956b0ea412079ec2943 |
| institution | DOAJ |
| issn | 1752-1947 |
| language | English |
| publishDate | 2025-04-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Medical Case Reports |
| spelling | doaj-art-bca85381a28c4956b0ea412079ec29432025-08-20T03:14:09ZengBMCJournal of Medical Case Reports1752-19472025-04-011911410.1186/s13256-025-05231-0Hypertrichosis associated with the use of C-type natriuretic peptide analogue: a case reportJuan Llerena Clinton0Tatiana Sa Pacheco Carneiro Magalhaes1Ana Paula Bordallo2Paulo Ferrez Collett-Solberg3Departamento de Genética Médica, Instituto Fernandes Figueira, Fundação Oswaldo CruzDepartamento de Genética Médica, Instituto Fernandes FigueiraUniversidade do Estado do Rio de Janeiro, Hospital Universitário Pedro ErnestoLaboratório de Pesquisas Clínicas e Experimentais em Biologia Vascular, Universidade do Estado do Rio de JaneiroAbstract Background Achondroplasia is the most common form of disproportionate skeletal dysplasia. Recently, C-type natriuretic peptide analogue (vosoritide) was approved in numerous countries to increase annual growth velocity in patients with achondroplasia with open plates. This is a case report highlighting an atypical adverse event in a group of patients with achondroplasia using vosoritide for at least 3 months. This adverse event is reported for the first time in the literature. Among all vosoritide clinical trials, hypertrichosis was not described as a side effect. Case presentation The study included a total of 18 patients, all of whom were from Brazil. Among these patients, 16 identified as White, specifically Latin Americans of European descent, while the remaining 2 identified as being of African descent. All patients exhibited typical clinical features of achondroplasia, which were confirmed by the presence of the most common pathogenic variant in the FGFR3 gene, c.1138G>A (p.Gly380Arg). Out of 18 patients (11 girls and 7 boys) ranging in age from 2 to 10 years, 11 developed hypertrichosis (8 girls and 3 boys). Out of the 18 patients (61.1%) receiving regular subcutaneous vosoritide, 11 developed hypertrichosis, characterized by pigmented, thin, and short hair on the face, arms, abdomen, back, and legs. Hypertrichosis was clinically diagnosed by experienced pediatric endocrinologists. None of the patients exhibited signs of virilization, advanced bone age, or elevated androgen levels. The hypertrichosis resolved after discontinuation of treatment. Conclusions This unexpected pharmacological event, observed in a real-world setting, should be discussed with families prior to initiating treatment. Although hypertrichosis was not previously reported in clinical trials, it was not considered a serious adverse event. Further real-world data are needed to support therapeutic decisions and set appropriate expectations for families, patients, and healthcare providers. Additional evidence is required to better understand the pathophysiology underlying this phenomenon. In some cases, this undesirable adverse effect may influence clinical decision-making regarding treatment.https://doi.org/10.1186/s13256-025-05231-0AchondroplasiaHypertrichosisAdverse eventsFGFR3Vosoritide |
| spellingShingle | Juan Llerena Clinton Tatiana Sa Pacheco Carneiro Magalhaes Ana Paula Bordallo Paulo Ferrez Collett-Solberg Hypertrichosis associated with the use of C-type natriuretic peptide analogue: a case report Journal of Medical Case Reports Achondroplasia Hypertrichosis Adverse events FGFR3 Vosoritide |
| title | Hypertrichosis associated with the use of C-type natriuretic peptide analogue: a case report |
| title_full | Hypertrichosis associated with the use of C-type natriuretic peptide analogue: a case report |
| title_fullStr | Hypertrichosis associated with the use of C-type natriuretic peptide analogue: a case report |
| title_full_unstemmed | Hypertrichosis associated with the use of C-type natriuretic peptide analogue: a case report |
| title_short | Hypertrichosis associated with the use of C-type natriuretic peptide analogue: a case report |
| title_sort | hypertrichosis associated with the use of c type natriuretic peptide analogue a case report |
| topic | Achondroplasia Hypertrichosis Adverse events FGFR3 Vosoritide |
| url | https://doi.org/10.1186/s13256-025-05231-0 |
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