Abstract
Congenital anonychia, a rare genetic disorder, presents as partial or complete absence of nails. It is often associated with inherited mutations affecting keratinization. Here, we present a case of a full-term newborn with anonychia of all fingers and toes, with a familial history of the father having similar nail abnormalities. This case emphasizes the importance of recognizing congenital anonychia and discussing its implications in clinical genetics, dermatology, and pediatric care.
Introduction
Anonychia congenita is a rare condition involving the complete or partial absence of nails, often linked to genetic mutations in genes like RSPO4, which influence nail development. Familial inheritance patterns are predominantly autosomal recessive or autosomal dominant.
This report discusses a case of anonychia in a newborn with a paternal history of similar presentation, highlighting clinical features, genetic considerations, and potential management strategies.
Case Presentation
A male newborn, delivered at 38 weeks of gestation via LSCS, presented with absent nails on all fingers and toes. Birth weight and Apgar scores were within normal ranges. No other dysmorphic features or systemic abnormalities were observed.
The father, a 30-year-old, also exhibited absent nails on all digits since birth, with no associated skeletal or dermatological abnormalities. The mother had normal nails and no relevant family history.
Investigations
- Genetic Testing: Whole-exome sequencing revealed a heterozygous mutation in the RSPO4 gene, confirming the diagnosis of an autosomal dominant form of anonychia.
- Skeletal X-rays: Normal findings ruled out associated skeletal dysplasia.
- Dermatological Evaluation: No evidence of associated conditions like ectodermal dysplasia.
Discussion
Congenital anonychia is a rare entity, and familial cases emphasize the need for genetic counseling. RSPO4 gene mutations are well-documented in both autosomal recessive and dominant cases. The absence of systemic involvement in this patient suggests isolated anonychia, differentiating it from syndromic presentations.
Early diagnosis aids in understanding inheritance patterns and provides anticipatory guidance for families. While there is no definitive treatment for anonychia, cosmetic and psychological support is crucial, especially during adolescence.
Conclusion
This case underscores the importance of recognizing familial patterns in congenital anonychia and highlights the role of genetic evaluation in diagnosis and counseling. Early recognition ensures appropriate guidance for affected families and enhances understanding of this rare condition.
References
- Blaydon DC, Ishii Y, et al. The gene responsible for hereditary anonychia. Nature Genetics. 2006;38(11):1245-1247.
- Bohring A, et al. RSPO4 mutations in familial anonychia/hyponychia. American Journal of Human Genetics. 2007;81(3):514-519.
- Vogt A, et al. Congenital anonychia: A review of nail developmental disorders. Pediatric Dermatology. 2012;29(4):384-387.
